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Sample records for cleft palate

  1. Cleft palate - resources

    Science.gov (United States)

    Resources - cleft palate ... The following organizations are good resources for information on cleft palate : Cleft Palate Foundation -- www.cleftline.org March of Dimes -- www.marchofdimes.com/professionals/14332_1210.asp ...

  2. Cleft Lip and Palate

    Science.gov (United States)

    Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. ... baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the ...

  3. Cleft Palate Foundation

    Science.gov (United States)

    ... Spanish , and Mandarin ! Information on Cleft Lip and Palate Our booklets and factsheets address a variety of ... Bear. –Paige with her Cleftline™ teddy bear– Cleft Palate Foundation 1504 East Franklin Street, Suite 102 Chapel ...

  4. Cleft Palate; A Multidiscipline Approach.

    Science.gov (United States)

    Stark, Richard B., Ed.

    Nineteen articles present a multidisciplinary approach to the management of facial clefts. The following subjects are discussed: the history of cleft lip and cleft palate surgery; cogenital defects; classification; the operation of a cleft palate clinic; physical examination of newborns with cleft lip and/or palate; nursing care; anesthesia;…

  5. Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... months of age. Your child may need more surgery for oral clefts as he grows. Your baby gets treated ... months of age. Your child may need more surgery for oral clefts as he grows. Your baby gets treated ...

  6. Molecular basis of cleft palates in mice

    Institute of Scientific and Technical Information of China (English)

    Noriko; Funato; Masataka; Nakamura; Hiromi; Yanagisawa

    2015-01-01

    Cleft palate, including complete or incomplete cleft palates, soft palate clefts, and submucosal cleft palates, is the most frequent congenital craniofacial anomaly in humans. Multifactorial conditions, including genetic and environmental factors, induce the formation of cleft palates. The process of palatogenesis is temporospatially regulated by transcription factors, growth factors, extracellular matrix proteins, and membranous molecules; a single ablation of these molecules can result in a cleft palate in vivo. Studies on knockout mice were reviewed in order to identify genetic errors that lead to cleft palates. In this review, we systematically describe these mutant mice and discuss the molecular mechanisms of palatogenesis.

  7. Improving Informed Consent for Cleft Palate Repair

    Science.gov (United States)

    2016-09-22

    Cleft Palate; Jaw Abnormalities; Maxillofacial Abnormalities; Mouth Abnormalities; Congenital Abnormalities; Jaw Diseases; Musculoskeletal Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Stomatognathic Diseases; Stomatognathic System Abnormalities

  8. Psychological issues in cleft lip and cleft palate

    Directory of Open Access Journals (Sweden)

    Sousa Avinash

    2009-01-01

    Full Text Available Vocational and social issues affect rehabilitation and development of patients with cleft lip and cleft palate. However, psychological problems like lowered self esteem and difficulties in social interaction have also been noted in them. Not many pediatric reconstructive surgery teams have a psychiatrist on their panel. It is likely that psychological problems are higher in incidence than literature actually suggests. Hence it is very essential that such cases are identified by the surgical team to maximize positive outcome of surgery and rehabilitation. This study discusses psychological issues revolving around cleft lip and cleft palate along with lacunae in many psychological research studies.

  9. Aspiration pneumonia in patients with cleft palate

    International Nuclear Information System (INIS)

    To assess the incidence of aspiration pneumonia in infants with cleft palate and to compare the incidence between complete and incomplete types of cleft palate. A review of medical records revealed 100 infants who had undergone initial surgery to repair cleft palate in our hospital during a recent three-year period. Aspiration pneumonia was defined as the coexistence of pneumonia at chest radiography with a history of frequent choking during feeding. The anatomic distribution of aspiration pneumonia was analyzed, and the incidences of aspiration pneumonia in infants with complete and incomplete cleft palate were compared. Among 100 children, aspiration pneumonia was found in 35 (35%). Those with complete and incomplete cleft palate showed similar incidences of the condition (27 of 70 [39%] vs 8 of 30 [27%], p=0.36). Pneumonia was most commonly seen in the left lower lobe (11 of 35), followed by the right upper and lower lobes. Aspiration pneumonia is frequently associated with infants with cleft palate. There is no statistical difference in the incidence of aspiration pneumonia between the complete and the incomplete cleft palate group

  10. [Cleft lip and palate in Campeche Mayas].

    Science.gov (United States)

    Weiss, K M; Georges, E; Levy, B; Aguirre, A; Portilla, R J; Gaitán, C L; Leyva, E; Rodríguez, T

    1988-07-01

    It has been suggested that among American Indians, as in some genetically-related Asiatic ethnic groups, incidence of cleft lip and/or cleft palate is higher than among people of Caucasian extraction. Such hypothesis, plus growing demand for services observed at a center for the surgery of cleft lip and cleft palate in Campeche state, led the authors to undertake research among the Maya residents of that region. However, neither careful review of case histories nor field research performed in several Indian communities could confirm the hypothesis of a higher incidence among this ethnic community.

  11. Dental materials for cleft palate repair.

    Science.gov (United States)

    Sharif, Faiza; Ur Rehman, Ihtesham; Muhammad, Nawshad; MacNeil, Sheila

    2016-04-01

    Numerous bone and soft tissue grafting techniques are followed to repair cleft of lip and palate (CLP) defects. In addition to the gold standard surgical interventions involving the use of autogenous grafts, various allogenic and xenogenic graft materials are available for bone regeneration. In an attempt to discover minimally invasive and cost effective treatments for cleft repair, an exceptional growth in synthetic biomedical graft materials have occurred. This study gives an overview of the use of dental materials to repair cleft of lip and palate (CLP). The eligibility criteria for this review were case studies, clinical trials and retrospective studies on the use of various types of dental materials in surgical repair of cleft palate defects. Any data available on the surgical interventions to repair alveolar or palatal cleft, with natural or synthetic graft materials was included in this review. Those datasets with long term clinical follow-up results were referred to as particularly relevant. The results provide encouraging evidence in favor of dental and other related biomedical materials to fill the gaps in clefts of lip and palate. The review presents the various bones and soft tissue replacement strategies currently used, tested or explored for the repair of cleft defects. There was little available data on the use of synthetic materials in cleft repair which was a limitation of this study. In conclusion although clinical trials on the use of synthetic materials are currently underway the uses of autologous implants are the preferred treatment methods to date.

  12. Congenital hypothyroidism, spiky hair, and cleft palate.

    OpenAIRE

    Bamforth, J S; Hughes, I A; Lazarus, J. H.; Weaver, C. M.; P.S. Harper

    1989-01-01

    Two brothers are described with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. Polyhydramnios was present in the third trimester of each pregnancy. These abnormalities appear to represent a new syndrome.

  13. Cleft lip and palate repair

    Science.gov (United States)

    Orofacial cleft; Craniofacial birth defect repair; Cheiloplasty; Cleft rhinoplasty; Palatoplasty; Tip rhinoplasty ... these conditions at birth. Most times, cleft lip repair is done when the child is 6 to ...

  14. Cleft Lip and Palate Care in Nigeria

    OpenAIRE

    Adeyemi, Tokunbo Abigail

    2016-01-01

    BACKGROUND; The World Health Organisation has recommended the need to standardise cleft care globally. In Europe, the Eurocleft project was a concerted effort to improve on the standards of care for children with cleft lip and palate. Certain recommendations were made that were used to judge the standards of care offered, this eventually led to reorganization of services. Improving on standards of cleft care in Nigeria, would require a starting point, by determining what is currently being of...

  15. Incidence of Cleft Lip and Palate in Uganda

    NARCIS (Netherlands)

    Dreise, Marieke; Galiwango, George; Hodges, Andrew

    2011-01-01

    Objective: The purpose of the study was to estimate the need for resources for cleft repairs in Uganda by determining the overall incidence of oral-facial clefts and the ratio of isolated cleft lip to isolated cleft palate to cleft lip and palate. Design: A 1-year prospective study was implemented i

  16. Submucous cleft palate and the general practitioner

    Science.gov (United States)

    Lowry, R. B.; Courtemanche, A. D.; MacDonald, C.

    1973-01-01

    Submucous cleft palate refers to a situation where the soft palate is largely composed of mucosa with little or no muscle. The defect is often not obvious on inspection of the mouth and pharynx. There is considerable clinical variation, with speech ranging from normal or minimal nasality to severe nasality and defective articulation. Many patients who have latent submucous cleft palate have the condition unmasked by an adenoidectomy because the adenoid pad had served as a compensatory factor in effecting palatopharyngeal closure. All physicians who perform tonsillectomy and adenoidectomy should be aware of the signs and symptoms which may suggest the diagnosis. ImagesFIG. 2 PMID:4758872

  17. Facts about Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... children with orofacial clefts may have issues with self-esteem if they are concerned with visible differences between themselves and other children. Parent-to-parent support groups can prove to be ...

  18. Lexical selectivity in Danish toddlers with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth

    2013-01-01

    Objective: To study if Danish toddlers with cleft palate display lexical selectivity in their early lexicon at 18 months of age. Design: A cross-sectional study. Participants: Thirty-four children with unilateral cleft lip and palate and 35 children without cleft palate, matched for gender and age...... productions establishing an observed productive vocabulary size for each participant. Results: At 18 months of age Danish toddlers with cleft palate showed marked lexical selectivity in their early words. The distribution of consonant classes observed at 11 months of age in a previous study of the children...... with cleft palate was almost perfectly reflected in their early lexicon at 18 months. The early lexicon of children with cleft palate differed from the early lexicon of their non cleft peers. Conclusions & Implications: Danish toddlers with cleft palate display lexical selectivity in the early lexicon...

  19. Genetics of Cleft Lip and Cleft Palate

    OpenAIRE

    Leslie, Elizabeth J.; Marazita, Mary L.

    2013-01-01

    Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. ...

  20. The Fetal Cleft palate: V. Elucidation of the Mechanism of Palatal Clefting in the Congenital Caprine Model

    Science.gov (United States)

    Maternal ingestion of Nicotiana glauca from gestation days 32 through 41 results in a high incidence of cleft palate in Spanish goats. This caprine cleft palate model was used to evaluate the temporal sequence of palatal shelf fusion throughout the period of cleft induction with the poisonous plant...

  1. Lexical selectivity in danish toddlers with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth

    2013-01-01

    Objective : To study if Danish children with cleft palate display lexical selectivity in their early lexicon at 18 months of age. Design : A cross-sectional study. Participants : Thirty-four children with unilateral cleft lip and palate and 35 children without cleft palate, matched for gender...... also analyzed with respect to word productions, establishing an observed productive vocabulary size for each participant. Results : At 18 months of age Danish children with cleft palate showed marked lexical selectivity in their early words. The distribution of consonant classes observed at 11 months...... of age in a previous study of the children with cleft palate was almost perfectly reflected in their early lexicon at 18 months. The early lexicon of children with cleft palate differed from the early lexicon of their noncleft peers. Conclusions and Implications : Danish toddlers with cleft palate...

  2. FOXE1 Association with both Isolated Cleft Lip with or without Cleft Palate; and Isolated Cleft Palate

    DEFF Research Database (Denmark)

    Moreno, Lina M; Mansilla, Maria Adela; Bullard, Steve A;

    2009-01-01

    Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q33. To identify the etiologic gene, we......) and rs4460498 (p=6.51E-12) were located inside a 70Kb high LD block containing FOXE1. Association signals for Caucasians and Asians clustered 5' and 3' of FOXE1, respectively. Isolated cleft palate (CP) was also associated indicating that FOXE1 plays a role in two phenotypes thought to be genetically...

  3. Periodontal Status Among Patients With Cleft Lip (CL), Cleft Palate (CP) and Cleft Lip, Alveolus and Palate (CLAP) In Chennai, India. A Comparative Study

    Science.gov (United States)

    John, Joseph

    2015-01-01

    Background: Long term health of the stomatognathic system as well as esthetic aspects is the therapeutic goals in patients with oro facial clefts. Aim: The aim of this study was to assess and compare the periodontal status of patients with cleft lip (CL), cleft palate (CP) and cleft lip, alveolus and palate (CLAP) reporting to a hospital in Chennai, India. Materials and Methods: The study group consisted of 80 cleft patients. Subjects were divided into three groups. Group 1: patients with cleft lip (CL), Group 2: subjects with cleft palate (CP) and Group 3: subjects with cleft lip alveolus and palate (CLAP). Community Periodontal Index for Treatment needs CPITN Index was recorded. Results: Among the 80 study subjects, 51 (63.8%) were males and 29 (36.2%) were females. Among the 26 study subjects with cleft lip, 10 (38.5%) had healthy periodontium, 4 (15.4%) had bleeding on probing and 12 (46.1%) had calculus. Mean number of sextants coded for healthy and bleeding was maximum among the subjects with cleft palate. Mean number of sextants coded for calculus was maximum among the subjects with cleft lip alveolus and palate. Prevalence of periodontal disease is high among patients with cleft lip, alveolus and palate (35%) than in Cleft lip (32.5%) and Cleft Palate (32.5%). Conclusion: Gingivitis and Calculus is predominantly high in patients with Cleft Palate and Cleft Lip respectively. PMID:25954706

  4. Patterns of Cleft Lip and Cleft Palate in Northern Pakistan

    OpenAIRE

    Mansoor Khan; Hidayat Ullah; Shazia Naz; Tahmeed Ullah; Hafeezullah Khan; Muhammad Tahir; Obaid Ullah

    2012-01-01

    Objectives: To determine the frequency of different types of cleft lip and palate, geographical distribution and its association with consanguinity, family history and other syndromes in the Northern Pakistani population. Study design: Descriptive cross-sectional study. Settings: This study was performed in Plastic and Reconstructive units of Hayat Medical Complex Peshawar Pakistan, Aman Hospital Peshawar Pakistan and Abasin Hospital Peshawar, Pakistan from November 2010 to December 20...

  5. Craniofacial Morphology and Growth Comparisons in Children With Robin Sequence, Isolated Cleft Palate, and Unilateral Complete Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Hermann, N. V.; Kreiborg, S.; Darvann, Tron Andre;

    2003-01-01

    Objective: Comparison of early craniofacial morphology and growth in children with nonsyndromic Robin Sequence (RS), isolated cleft palate (ICP), and unilateral complete cleft lip and palate (UCCLP). Subjects: One hundred eight children with cleft: 7 with RS, 53 with ICP, and 48 with UCCLP were...

  6. Acute Liver Failure and Hepatic Encephalopathy After Cleft Palate Repair.

    Science.gov (United States)

    Kocaaslan, Nihal Durmuş; Tuncer, Fatma Betul; Tutar, Engin; Celebiler, Ozhan

    2015-09-01

    Paracetamol is the most commonly used analgesic after cleft palate repair. It has rarely caused acute hepatic failure at therapeutic or supratherapeutic doses. Only one case of therapeutic paracetamol toxicity after cleft palate repair had been reported previously. Here, we present a similar patient who developed acute liver failure and hepatic encephalopathy after an uncomplicated cleft palate surgery. Lack of large prospective trials in young children due to ethical concerns increases the value of the case reports of acetaminophen toxicity at therapeutic doses. The dosing recommendations of paracetamol may need to be reconsidered after cleft palate surgery.

  7. Cleft Lip and Cleft Palate--What to Know and Who Can Help

    Science.gov (United States)

    Apel, Laura

    2008-01-01

    Craniofacial defects such as cleft lip and cleft palate are among the most common of all birth defects in the United States, with one in every 600 newborns affected. Cleft lip and/or palate can occur as an isolated condition or may be one component of an inherited disease or syndrome. Dealing with the condition is an extremely difficult and…

  8. Comparison of periodontal status among patients with cleft lip, cleft palate, and cleft lip along with a cleft in palate and alveolus

    Directory of Open Access Journals (Sweden)

    Boloor Vinita

    2010-01-01

    Full Text Available Background and Objectives : A healthy periodontium is an important prerequisite for unhindered dentition and long-term oral health. In cleft subjects, especially in those with cleft lip, alveolus and palate (CLAP, maintenance of oral hygiene is a difficult task for the patients because of the patent oro-nasal communication. Crowding of teeth in cleft patients is a common finding, especially in those with CLAP and those with cleft palate (CP. In the case of multiple tooth-malpositions , transverse deficiency, arch length deficiency and primary cross-bite; periodontal trauma increases and is detrimental to periodontal health . According to literature, a critical periodontal situation was found in patients with CLAP. Hence a study was conducted to analyze the periodontal status of patients with cleft lip (CL; those with cleft palate; and those with cleft lip, alveolus and palate. Materials and Methods: The present study consisted of 60 cleft subjects divided into 3 groups: those with cleft lip; those with cleft palate; and those with cleft lip, alveolus and palate. Subjects with permanent dentition were selected, and the clinical examination included determination of oral hygiene status using Oral Hygiene Index - Simplified (OHI-S index and periodontal status using community periodontal index (CPI. Results: Statistically significant increase in the periodontal disease in the CLAP group as compared with the other 2 groups, and the oral hygiene was seen to be generally poor with the CLAP group. Interpretation and Conclusion: Individuals with clefts are more prone to periodontal disease due to the presence of cleft, which causes retention of food in the defect sites and inability to maintain good oral hygiene; but the severity of periodontal disease is more if the defect is large and involving the lip, alveolus and palate.

  9. Short mandible - a possible risk factor for cleft palate with/without a cleft lip

    DEFF Research Database (Denmark)

    Hermann, Nuno Vibe; Darvann, Tron Andre; Ersbøll, Bjarne Kjær;

    2014-01-01

    Structured Abstract Objectives To estimate the influence of a short mandible on the risk of developing a cleft palate with/without a cleft lip (CP). Setting and sample population The retrospective sample consisted of 115 2-month-old Danish infants with CP, and 70 control infants with unilateral...... the risk of having a cleft palate. Results The mean mandibular length in the group with CP was about 4mm shorter than in the control group. Odds ratio (OR) was calculated to be 0.58 (95% confidence interval 0.48-0.68), implying that an individual's risk of cleft palate with/without a cleft lip increases...... about 50% per mm decrease in mandibular length. Conclusions A special facial type including a short mandible is a possible risk factor for cleft palate, and it was found that the risk of cleft palate increases 58% per mm decreases in mandibular length....

  10. Lexical selectivity in danish toddlers with cleft palate.

    Science.gov (United States)

    Willadsen, Elisabeth

    2013-07-01

    Objective : To study if Danish children with cleft palate display lexical selectivity in their early lexicon at 18 months of age. Design : A cross-sectional study. Participants : Thirty-four children with unilateral cleft lip and palate and 35 children without cleft palate, matched for gender and age. Methods : All participants were video recorded at 18 months of age during play interaction with a parent. The video recordings were transcribed according to the International Phonetic Alphabet and an individual consonant inventory was established for each participant. The video recordings were also analyzed with respect to word productions, establishing an observed productive vocabulary size for each participant. Results : At 18 months of age Danish children with cleft palate showed marked lexical selectivity in their early words. The distribution of consonant classes observed at 11 months of age in a previous study of the children with cleft palate was almost perfectly reflected in their early lexicon at 18 months. The early lexicon of children with cleft palate differed from the early lexicon of their noncleft peers. Conclusions and Implications : Danish toddlers with cleft palate display lexical selectivity in the early lexicon as it has been described for English-speaking toddlers with and without cleft palate, even though some qualitative differences were found.

  11. A Review of Hearing Loss in Cleft Palate Patients

    OpenAIRE

    Bilal Gani; Kinshuck, A. J.; Sharma, R.

    2012-01-01

    Background. Cleft palate is associated with recurrent otitis media with effusion and hearing loss. This study analysed the way these patients' hearing is managed in Alder Hey Children's Hospital. Method. A retrospective audit was carried out on cleft palate patients in Alder Hey Children's Hospital. Audiology assessment and treatment options were reviewed. Comparisons were made between the use of ventilation tubes (VTs) and hearing aids (HAs). The types of cleft, types of hearing loss, and th...

  12. The development of speech production in children with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Chapman, Kathy

    2012-01-01

    The purpose of this chapter is to provide an overview of speech development of children with cleft palate +/- cleft lip. The chapter will begin with a discussion of the impact of clefting on speech. Next, we will provide a brief description of those factors impacting speech development for this p......The purpose of this chapter is to provide an overview of speech development of children with cleft palate +/- cleft lip. The chapter will begin with a discussion of the impact of clefting on speech. Next, we will provide a brief description of those factors impacting speech development...... for this population of children. Finally, research examining various aspects of speech development of infants and young children with cleft palate (birth to age five) will be reviewed. This final section will be organized by typical stages of speech sound development (e.g., prespeech, the early word stage...

  13. Bony defect of palate and vomer in submucous cleft palate patients.

    Science.gov (United States)

    Ren, S; Ma, L; Zhou, X; Sun, Z

    2015-01-01

    The aim of this study was to visualize bony defects of the palate and vomer in submucous cleft palate patients (SMCP) by three-dimensional (3D) computed tomography (CT) reconstruction and to classify the range of bony defects. Forty-eight consecutive non-operated SMCP patients were included. Diagnosis was based on the presence of at least one of three classical signs of SMCP: bifid uvula, a translucent zone in the midline of the soft palate, and a palpable 'V' notch on the posterior border of the bony palate. Patients were imaged using spiral CT. 3D reconstruction models were created of the palate and vomer. The sagittal extent of the bony cleft in SMCP was classified into four types: type I, no V-shaped hard palate cleft (8.3%); type II, cleft involving the partial palate (43.8%); type III, cleft involving the complete palate and extending to the incisive foramen (43.8%); type IV, cleft involving the complete palate and the alveolar bone (4.2%). The extent of the vomer defect was classified into three types: type A, vomer completely fused with the palate (8.3%); type B, vomer partially fused with the palate (43.8%); type C, vomer not fused with the palate up to the incisive foramen (47.9%). Significant variability in hard palate defects in SMCP is the rule rather than the exception. The association of velopharyngeal insufficiency with anatomical malformations may be complex.

  14. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

    OpenAIRE

    Reema Sharma Dhar; Amitava Bora

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and ro...

  15. Spectrographic analysis of pain cry in neonates with cleft palate.

    Science.gov (United States)

    Michelsson, K; Sirviö, P; Koivisto, M; Sovijärvi, A; Wasz-Höckert, O

    1975-01-01

    52 phonations of 13 cleft palate neonates were analyzed by sound spectrographic methods. 17 phonetical attributes were included in the study and the first signal after the pain stimulus was analyzed. The cries of the cleft palate infants were compared with the crying of 75 normal babies of the same age. No change in the fundamental frequency, melody type and duration of the cries was seen in association with these anatomical defects. Two of the characteristics studied, vibrato and the 'tonal pit', occurred significantly more often in cries of the cleft palate infants than in cries of the control series. The changes in the qualities seen in association with cleft palate and/or cleft lip do not mimic the abnormalities produced by brain damage.

  16. Cross-linguistic perspectives on speech assessment in cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Henningsson, Gunilla

    2012-01-01

    This chapter deals with cross linguistic perspectives that need to be taken into account when comparing speech assessment and speech outcome obtained from cleft palate speakers of different languages. Firstly, an overview of consonants and vowels vulnerable to the cleft condition is presented. Then......, consequences for assessment of cleft palate speech by native versus non-native speakers of a language are discussed, as well as the use of phonemic versus phonetic transcription in cross linguistic studies. Specific recommendations for the construction of speech samples in cross linguistic studies are given....... Finally, the influence of different languages on some aspects of language acquisition in young children with cleft palate is presented and discussed. Until recently, not much has been written about cross linguistic perspectives when dealing with cleft palate speech. Most literature about assessment...

  17. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip–Cleft Palate

    Science.gov (United States)

    George, Lovya; Jain, Sunil K.

    2015-01-01

    Preterm infants (PIs) often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require continued intubation and mechanical ventilation. We are presenting the first case report of a PI with cleft lip and palate who was managed by biphasic nasal continuous positive airway pressure. PMID:26495158

  18. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip–Cleft Palate

    Directory of Open Access Journals (Sweden)

    Lovya George

    2015-10-01

    Full Text Available Preterm infants (PIs often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require continued intubation and mechanical ventilation. We are presenting the first case report of a PI with cleft lip and palate who was managed by biphasic nasal continuous positive airway pressure.

  19. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip-Cleft Palate.

    Science.gov (United States)

    George, Lovya; Jain, Sunil K

    2015-10-01

    Preterm infants (PIs) often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require continued intubation and mechanical ventilation. We are presenting the first case report of a PI with cleft lip and palate who was managed by biphasic nasal continuous positive airway pressure. PMID:26495158

  20. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip–Cleft Palate

    OpenAIRE

    Lovya George; Sunil K Jain

    2015-01-01

    Preterm infants (PIs) often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require co...

  1. Helping parents cope with a cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Jenny Steyn

    1980-09-01

    Full Text Available For the layman, the area of cleft palate is one shrouded in mystery and half-knowledge. An unrepaired cleft lip and palate is an unpleasant, if not alarming sight, and parents are not always totally convinced by the reassuring words of doctors and nurses that “ plastic surgeons do a marvellous job on cleft palate babies.” They need proof that their baby will indeed look and be like any other baby within a few months. Equally important, they need reassurance that whatever feelings they may experience when their babies are born are natural and appropriate ones. As the baby grows and develops parents may need practical assistance, emotional support and information regarding their baby’s condition. It is essentially for these reasons that a fellowship group has been established under the auspices of SAIDA (Southern Africa Inherited Disorders Association to help parents and families of cleft lip and palate children.

  2. Computational Embryology and Predictive Toxicology of Cleft Palate

    Science.gov (United States)

    Capacity to model and simulate key events in developmental toxicity using computational systems biology and biological knowledge steps closer to hazard identification across the vast landscape of untested environmental chemicals. In this context, we chose cleft palate as a model ...

  3. Presurgical nasoalveolar moulding in unilateral cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Mohammed Zuhaib

    2016-01-01

    Full Text Available Context: Presurgical nasoalveolar moulding (PNAM is a non-surgical method of reshaping the cleft lip, alveolus, palate and the nose to minimize the severity of the cleft deformity, before primary cheiloplastyand palatoplasty. In this context, PNAM proves to be an invaluable asset in the management of unilateral cleft lip and palate. Aims: The study was conducted to evaluate the effi cacy of PNAM in the management of unilateral cleft lip and palate with the following objectives: (1 To assess and compare the degree of reduction in the size of cleft palate and alveolus (pre-PNAM and post-PNAM. (2 To evaluate and compare the improvement in columellar length and correction of columellar deviation (pre-PNAM and post-PNAM. (3 To assess the changes in the position of the alar base and the alar cartilages. Settings and Design: Prospective study. Subjects and Methods: A prospective study consisting of, which included 20 patients with complete unilateral cleft lip and palate was conducted. The age at the start of PNAM treatment of the infants ranged from 2 to 44 days of age reporting to our institute between December 2011 and August 2013. All the patients underwent PNAM therapy before primary cheiloplasty at 6 months of age; clinical parameters were assessed pre- and post-therapy using photographs and dental study models of the maxilla. Statistical Analysis Used: Student's t-test for paired comparisons. Results: Results of the study showed a promising reduction in the cleft size before the surgery, signifi cant improvement in nasal symmetry, including the columellar length on the cleft side. Conclusions: PNAM is a valuable adjunct to our surgical armamentarium in dealing with the challenges of primary closure of unilateral cleft lip and palate thereby enhancing the overall surgical outcome. The advantages of this method include the simplicity of the procedure and improving the quality of surgical repair, particularly in obtaining tension free muscle

  4. COMPARATIVE STUDY OF DERMATOGLYPHIC FINGERTIP PATTERNS AND ‘ atd ’ ANGLE IN PATIENTS OF CLEFT LIP WITH OR WITHOUT CLEFT PALATE AND ISOLATED CLEFT PALATE WITH NORMAL POPULATION

    Directory of Open Access Journals (Sweden)

    Siraz M.

    2015-08-01

    Full Text Available Dermatoglyphics is the scientific study of epidermal ridges and their configurations on the volar aspect of palmar and plantar region. The main etiological factor of cleft lip and cleft palate is genetic in nature. The influences of genetic and environmental factors on early development are often reflected by the altered dermatoglyphics. AIMS & OBJECTIVES : To study the fingertip dermatoglyphic patterns in cleft lip and cleft palate patients. To compare the derm - atoglyphic ‘atd’ angle of cleft lip and cleft palate patients with normal population. MATERIAL & METHODS : The present study is a case control study carried out from Dec 2004 to Nov 2006. 86 cases of cleft lip with or without cleft palate and isolated cleft palate attending OPD of Govt. Medical College & Hospital, Miraj, Civil Hospital, Sangli, Aditya Burn and Plastic Surgery Hospital, Sangli and 100 controls with age and sex matched during the study period were included in study. The cases and controls divided in three groups : A ( C left lip with or without cleft palate ; B ( I solated cleft palate and C (Controls. In this study, ‘STANDARD INK METHOD’ for obtaining the dermatoglyphic prints described by Cummins (1936 and Cummins and Midlo (1961 was used. The parameters studied among different groups were sex wise distribution, hereditary basis, analysis of Fingertip Patterns and analysis of dermatoglyphic ‘atd’ angle. Appropriate statistical tests were applied like Mean, Standard Deviation (S.D., standard Error (S.E., Unpaired ‘t’ test of significance, for quantitative data, Chi - square’ test for qualitative data and ‘P’ value. OBSERVATIONS & RESULTS : Out of 82 Patients, 50 Patients are having cleft lip with or without cleft palate defect, while 32 patients are having isolated cleft palate defect with female dominance. The difference observed in percentage distribution of whorls and arches was statically significant in group A and C. The percentage

  5. Speech and language development in toddlers with and without cleft palate

    NARCIS (Netherlands)

    Priester, G. H.; Goorhuis-Brouwer, S. M.

    2008-01-01

    Objective: The effect of early palate closure on speech and language development in children with cleft palate. Design: Comparative study. Setting: University Medical Center Groningen, Cleft Palate Team (The Netherlands). Materials and methods: Forty-three toddlers with cleft palate and thirty-two t

  6. Bilateral optic disc pit with maculopathy in a patient with cleft lip and cleft palate

    Science.gov (United States)

    Seth, Anisha; Gupta, Rajat; Gupta, Anika; Raina, Usha K; Ghosh, Basudeb

    2015-01-01

    Optic disc pit (ODP) is small, gray-white, oval depression found at the optic nerve head. It is a congenital defect that occurs due to imperfect closure of superior edge of the embryonic fissure. Cleft lip and palate are also congenital midline abnormalities occurring due to defect in the fusion of frontonasal prominence, maxillary prominence and mandibular prominence. There is only one case report describing the occurrence of ODP in a young patient with cleft lip and palate who also had basal encephalocele. We describe a 52-year-old patient with congenital cleft lip and palate with bilateral ODP with maculopathy but without any other midline abnormality. PMID:26044478

  7. Simplified feeding appliance for an infant with cleft palate

    Directory of Open Access Journals (Sweden)

    Shaila Masih

    2014-01-01

    Full Text Available A child born with cleft palate may experience difficulties while feeding. Early surgical treatment may need to be postponed until certain age and weight gain of the infant. The case presented here is of a 1-month-old neonate born with cleft palate, assisted with a new feeding appliance made with ethylene vinyl acetate using pressure molding technique to aid in proper feeding. The patient′s weight and health significantly improved after the insertion of obturator. The advantages of this material included being lightweight, moldability, good palatal fit and decreased soft tissue injury.

  8. The Effect of Cleft Palate Repair on Contractile Properties of Single Permeabilized Muscle Fibers From Congenitally Cleft Goats Palates

    Science.gov (United States)

    A cleft palate goat model was used to study the contractile properties of the levator veli palatini (LVP) muscle which is responsible for the movement of the soft palate. In 15-25% of patients that undergo palatoplasty, residual velopharyngeal insufficiency (VPI) remains a problem and often require...

  9. 3-D shape analysis of palatal surface in patients with unilateral complete cleft lip and palate.

    Science.gov (United States)

    Rusková, Hana; Bejdová, Sárka; Peterka, Miroslav; Krajíček, Václav; Velemínská, Jana

    2014-07-01

    Facial development of patients with unilateral complete cleft lip and palate (UCLP) is associated with many problems including deformity of the palate. The aim of this study was to evaluate palatal morphology and variability in patients with UCLP compared with Czech norms using methods of geometric morphometrics. The study was based on virtual dental cast analysis of 29 UCLP patients and 29 control individuals at the age of 15 years. The variability of palatal shape in UCLP patients was greater than that in nonclefted palates. Only 24% of clefted palates fell within the variability of controls. The palatal form of UCLP patients (range from 11.8 to 17.2 years) was not correlated with age. Compared with control palates, palates of UCLP patients were narrower, more anteriorly than posteriorly. Apart from the praemaxilla region, they were also shallower, and the difference increased posteriorly. The UCLP palate was characterised by the asymmetry of its vault. The maximum height of the palatal vault was anterior on the clefted side, whereas it was posterior on the nonclefted side. The slope of the UCLP palate was more inclined compared with the control group. The praemaxilla was therefore situated more inferiorly.

  10. Dislocated Tongue Muscle Attachment and Cleft Palate Formation.

    Science.gov (United States)

    Kouskoura, T; El Fersioui, Y; Angelini, M; Graf, D; Katsaros, C; Chiquet, M

    2016-04-01

    In Pierre Robin sequence, a retracted tongue due to micrognathia is thought to physically obstruct palatal shelf elevation and thereby cause cleft palate. However, micrognathia is not always associated with palatal clefting. Here, by using the Bmp7-null mouse model presenting with cleft palate and severe micrognathia, we provide the first causative mechanism linking the two. In wild-type embryos, the genioglossus muscle, which mediates tongue protrusion, originates from the rostral process of Meckel's cartilage and later from the mandibular symphysis, with 2 tendons positive for Scleraxis messenger RNA. In E13.5 Bmp7-null embryos, a rostral process failed to form, and a mandibular symphysis was absent at E17.5. Consequently, the genioglossus muscle fibers were diverted toward the lingual surface of Meckel's cartilage and mandibles, where they attached in an aponeurosis that ectopically expressed Scleraxis. The deflection of genioglossus fibers from the anterior-posterior toward the medial-lateral axis alters their direction of contraction and necessarily compromises tongue protrusion. Since this muscle abnormality precedes palatal shelf elevation, it is likely to contribute to clefting. In contrast, embryos with a cranial mesenchyme-specific deletion of Bmp7 (Bmp7:Wnt1-Cre) exhibited some degree of micrognathia but no cleft palate. In these embryos, a rostral process was present, indicating that mesenchyme-derived Bmp7 is dispensable for its formation. Moreover, the genioglossus appeared normal in Bmp7:Wnt1-Cre embryos, further supporting a role of aberrant tongue muscle attachment in palatal clefting. We thus propose that in Pierre Robin sequence, palatal shelf elevation is not impaired simply by physical obstruction by the tongue but by a specific developmental defect that leads to functional changes in tongue movements.

  11. Influence of lip closure on alveolar cleft width in patients with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Schmelzle Rainer

    2011-01-01

    Full Text Available Abstract Background The influence of surgery on growth and stability after treatment in patients with cleft lip and palate are topics still under discussion. The aim of the present study was to investigate the influence of early lip closure on the width of the alveolar cleft using dental casts. Methods A total of 44 clefts were investigated using plaster casts, 30 unilateral and 7 bilateral clefts. All infants received a passive molding plate a few days after birth. The age at the time of closure of the lip was 2.1 month in average (range 1-6 months. Plaster casts were obtained at the following stages: shortly after birth, prior to lip closure, prior to soft palate closure. We determined the width of the alveolar cleft before lip closure and prior to soft palate closure measuring the alveolar cleft width from the most lateral point of the premaxilla/anterior segment to the most medial point of the smaller segment. Results After lip closure 15 clefts presented with a width of 0 mm, meaning that the mucosa of the segments was almost touching one another. 19 clefts showed a width of up to 2 mm and 10 clefts were still over 2 mm wide. This means a reduction of 0% in 5 clefts, of 1-50% in 6 clefts, of 51-99% in 19 clefts, and of 100% in 14 clefts. Conclusions Early lip closure reduces alveolar cleft width. In most cases our aim of a remaining cleft width of 2 mm or less can be achieved. These are promising conditions for primary alveolar bone grafting to restore the dental bony arch.

  12. Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: A subphenotype analysis using two population-based studies of orofacial clefts in scandinavia

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian;

    2010-01-01

    BACKGROUND: Cleft lip only (CLO) and cleft lip and palate (CLP) are commonly regarded as variants of the same defect and are traditionally combined to form the single group of cleft lip with or without cleft palate (CL/P) prior to analysis. However, recent data have suggested that at least a subg...

  13. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

    Directory of Open Access Journals (Sweden)

    Reema Sharma Dhar

    2014-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia-cleft (EEC syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

  14. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

    Science.gov (United States)

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report. PMID:25231046

  15. Reconstruction of alveolar defects in patients with cleft lip and palate - 111 consecutive patients

    DEFF Research Database (Denmark)

    Andersen, Kristian

    2012-01-01

    Reconstruction of alveolar defects in patients with cleft lip and palate - 111 consecutive patients......Reconstruction of alveolar defects in patients with cleft lip and palate - 111 consecutive patients...

  16. Diagnosis and presurgical orthopedics in infants with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Fundagul Bilgic

    2015-01-01

    Full Text Available Cleft lip and palate are one of the most common congenital craniofacial malformations. While preoperative treatment for infants with cleft lip and palate is still a scientific debate, patients with this malocclusion usually have to be treated from infancy to adulthood. Orthodontist plays an important role in the treatment of patients with cleft lip and palate. The purpose of this review is to give information about cleft lip and palate and presurgical nasoalveolar molding.

  17. Is there an optimal resting velopharyngeal gap in operated cleft palate patients?

    OpenAIRE

    Rajesh Yellinedi; Mukunda Reddy Damalacheruvu

    2013-01-01

    Context: Videofluoroscopy in operated cleft palate patients. Aims: To determine the existence of an optimal resting velopharyngeal (VP) gap in operated cleft palate patients Settings and Design: A retrospective analysis of lateral view videofluoroscopy of operated cleft palate patients. Materials and Methods: A total of 117 cases of operated cleft palate underwent videofluoroscopy between 2006 and 2011. The lateral view of videofluoroscopy was utilised in the study. A retrospective analysis o...

  18. A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

    OpenAIRE

    Buket Uysal Aladag; Fatma Hilal Yilmaz; Nadir Kocak; Ali Annagur

    2013-01-01

    Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC) is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate). A few cases have been reported in literature. The cardinal components of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities ectodermal structures including skin (i.e. hypopigmented and dry skin, hyperkeratosis, skin atr...

  19. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

    Science.gov (United States)

    Moreno, Lina M.; Mansilla, Maria Adela; Bullard, Steve A.; Cooper, Margaret E.; Busch, Tamara D.; Machida, Junichiro; Johnson, Marla K.; Brauer, David; Krahn, Katherine; Daack-Hirsch, Sandy; L'Heureux, Jamie; Valencia-Ramirez, Consuelo; Rivera, Dora; López, Ana Maria; Moreno, Manuel A.; Hing, Anne; Lammer, Edward J.; Jones, Marilyn; Christensen, Kaare; Lie, Rolv T.; Jugessur, Astanand; Wilcox, Allen J.; Chines, Peter; Pugh, Elizabeth; Doheny, Kim; Arcos-Burgos, Mauricio; Marazita, Mary L.; Murray, Jeffrey C.; Lidral, Andrew C.

    2009-01-01

    Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22–q33. To identify the etiologic gene, we undertook an iterative and complementary fine mapping strategy using family-based CL/P samples from Colombia, USA and the Philippines. Candidate genes within 9q22–q33 were sequenced, revealing 32 new variants. Concurrently, 397 SNPs spanning the 9q22–q33 2-LOD-unit interval were tested for association. Significant SNP and haplotype association signals (P = 1.45E − 08) narrowed the interval to a 200 kb region containing: FOXE1, C9ORF156 and HEMGN. Association results were replicated in CL/P families of European descent and when all populations were combined the two most associated SNPs, rs3758249 (P = 5.01E − 13) and rs4460498 (P = 6.51E − 12), were located inside a 70 kb high linkage disequilibrium block containing FOXE1. Association signals for Caucasians and Asians clustered 5′ and 3′ of FOXE1, respectively. Isolated cleft palate (CP) was also associated, indicating that FOXE1 plays a role in two phenotypes thought to be genetically distinct. Foxe1 expression was found in the epithelium undergoing fusion between the medial nasal and maxillary processes. Mutation screens of FOXE1 identified two family-specific missense mutations at highly conserved amino acids. These data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies. PMID:19779022

  20. Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Wang Guangbin, E-mail: wgb7932596@hotmail.com [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China); Shan Ruiqin [Jinan Maternity and Child Care Hospital, Jinan (China); Zhao Lianxin; Zhu Xiangyu; Zhang Xinjuan [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China)

    2011-09-15

    Objective: To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials: Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results: Final diagnoses confirmed incomplete midline cleft lip (n = 1), unilateral cleft lip and palate (n = 7), bilateral cleft lip and palate (n = 1), midline cleft lip and palate (n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion: MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

  1. Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

    International Nuclear Information System (INIS)

    Objective: To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials: Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results: Final diagnoses confirmed incomplete midline cleft lip (n = 1), unilateral cleft lip and palate (n = 7), bilateral cleft lip and palate (n = 1), midline cleft lip and palate (n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion: MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

  2. Ectrodactyly, cleft lip and palate in two half sibs.

    OpenAIRE

    Lewis, M B; Pashayan, H M

    1981-01-01

    Two half sibs with bilateral complete cleft lip and complete cleft of the palate associated with ectrodactyly of the hands and feet, born to the same phenotypically normal mother, are reported. The younger of the two sibs also has dominantly inherited tremors (also referred to as essential heredofamilial tremors) as did her biological father. Possible genetic causes to explain the recurrence of the facial and limb malformations in the half sibs with additional central nervous system malformat...

  3. Phonetic features by babies with unilateral cleft lip and palate.

    Science.gov (United States)

    O'Gara, M M; Logemann, J A; Rademaker, A W

    1994-11-01

    Twenty-three babies with nonsyndromic unilateral cleft lip and palate were audiotaped at regular intervals from 5 to 35 months of age. Narrow phonetic transcription of their comfort-state vocalizations and word approximations was accomplished to describe phonetic development over time and according to the nonrandomized age of palatoplasty. The babies that had earlier palatal repair produced significantly higher percentages of oral stops after 12 months of age than babies with similar clefts that had later palatal repair. No significant differences are evident, however, according to age of palatoplasty, for mean frequency use of oral fricatives up to 3 years of age. For all 23 babies, regardless of the age of palatoplasty intervention, time is an even stronger variable than age of palatoplasty for development of palatal, alveolar and velar place features, oral stops, and oral fricatives.

  4. TCDD disrupts posterior palatogenesis and causes cleft palate.

    Science.gov (United States)

    Yamada, Tomohiro; Hirata, Azumi; Sasabe, Eri; Yoshimura, Tomohide; Ohno, Seiji; Kitamura, Naoya; Yamamoto, Tetsuya

    2014-01-01

    Dioxins (e.g. 2,3,7,8-tetrachlorodibenzo-p-dioxin; TCDD) cause cleft palate at a high rate. A post-fusional split may contribute to the pathogenesis, and tissue fragility may be a concern. The objective of this study was to investigate the effects of TCDD on the palatal epithelium, bone and muscle, which contribute to tissue integrity. ICR mice (10-12 weeks old) were used. TCDD was administered on E12.5 at 40 mg/kg. Immunohistochemical staining for AhR, ER-α, laminin, collagen IV, osteopontin, Runx2, MyoD, and desmin were performed. Furthermore, western blot analysis for osteopontin, Runx2, MyoD, and desmin were performed to evaluate protein expression in the palatal tissue. Immunohistologically, there was little difference in the collagen IV and laminin localization in the palatal epithelium between control versus TCDD-treated mice. Runx2 and osteopontin immunoreactivity decreased in the TCDD-treated palatal bone, and MyoD and desmin decreased in the TCDD-treated palatal muscle. AhR and ER-α immunoreactivity were localized to the normal palatal bone, but ER-α was diminished in the TCDD-treated palate. On western blot analysis, Runx2, MyoD, and desmin were all downregulated in the TCDD-treated palate. TCDD may suppress palatal osteogenesis and myogenesis via AhR, and cause cleft palates via a post-fusional split mechanism, in addition to a failure of palatal fusion.

  5. Cleft Lip and Palate (For Parents)

    Science.gov (United States)

    ... with your doctor about the treatment plan. Surgical Treatment A cleft lip is usually surgically repaired in the hospital using general anesthesia when a child is 3 to 6 months old. If the cleft lip is wide, special procedures like lip adhesion or a molding plate device might help bring ...

  6. Influence of timing of two-stage palate closure on early phonological and lexical development in children with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth

    . However, both groups of children with cleft palate had a smaller productive vocabulary than the control children, but the late group produced a smaller number of word tokens than the early group. This difference between the two cleft palate groups is hypothesized to be caused by reduced intelligibility...... with unilateral cleft lip and palate participated. The soft palate was closed at 4 months, and the residual cleft was closed at either 12 months (early group) or 36 months (late group). Group assignment was randomized. Forty-one control children were matched for gender and age. At 11 and 18 months, all children......  BACKGROUND AND PURPOSE Numerous studies have indicated that early closure of the palatal cleft has a positive influence on the phonological development in children with cleft palate. So far, however, substantial evidence for this assumption has been lacking due to a variety of weaknesses...

  7. Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development

    DEFF Research Database (Denmark)

    Jakobsen, L.P.; Borup, R.; Vestergaard, J.;

    2009-01-01

    Cleft lip and/or palate (CL/P) is a common congenital malformation with a complex etiology which is not fully elucidated yet. Epidemiological studies point to different etiologies in the cleft lip and palate subgroups, isolated cleft lip (CL), isolated cleft palate (CP) and combined cleft lip...... and palate (CLP). In order to understand the biological basis in these cleft lip and palate subgroups better we studied the expression profiles in human tissue from patients with CL/P. In each of the CL/P subgroups, samples were obtained from three patients and gene expression analysis was performed....... Moreover, selected differentially expressed genes were analyzed by quantitative RT-PCR, and by immunohistochemical staining of craniofacial tissue from human embryos. Osteopontin (SPP1) and other immune related genes were significantly higher expressed in palate tissue from patients with CLP compared to CP...

  8. Maxillary growth in a congenital cleft palate canine model for surgical research.

    Science.gov (United States)

    Paradas-Lara, Irene; Casado-Gómez, Inmaculada; Martín, Conchita; Martínez-Sanz, Elena; López-Gordillo, Yamila; González, Pablo; Rodríguez-Bobada, Cruz; Chamorro, Manuel; Arias, Pablo; Maldonado, Estela; Ortega, Ricardo; Berenguer, Beatriz; Martínez-Álvarez, Concepción

    2014-01-01

    We have recently presented the Old Spanish Pointer dog, with a 15-20% spontaneous congenital cleft palate rate, as a unique experimental model of this disease. This study aimed to describe the cleft palate of these dogs for surgical research purposes and to determine whether congenital cleft palate influences maxillofacial growth. Seven newborn Old Spanish Pointer dogs of both sexes, comprising a cleft palate group (n = 4) and a normal palate group (n = 3), were fed using the same technique. Macroscopic photographs and plaster casts from the palate, lateral radiographs and computer tomograms of the skull were taken sequentially over 41 weeks, starting at week 5. The cleft morphology, the size and the tissue characteristics in these dogs resembled the human cleft better than current available animal models. During growth, the cleft width varies. Most of the transverse and longitudinal measures of the palate were statistically lower in the cleft palate group. The cleft palate group showed hypoplasia of the naso-maxillary complex. This model of congenital cleft palate seems suitable for surgical research purposes. A reduced maxillofacial pre- and post-natal development is associated to the congenital cleft palate in the Old Spanish Pointer dog.

  9. Prosthodontic treatment of the edentulous adult cleft palate patient.

    Science.gov (United States)

    Sykes, Leanne M

    2003-03-01

    Clefts of the upper lip and plate are relatively common, yet dental treatment of these patients is still very poor and many grow up suffering dental neglect. Dental practitioners should become involved in the treatment team as dental needs are present from birth to death. Adult cleft patients often need tooth replacement with obturation of any residual clefts. They are best treated with tooth-supported removable appliances including partial and complete overdentures, thus preservation of their natural dentition is desirable. Edentulous cleft palate patients present with restorative difficulties due to their compromised maxillary arches as well as the presence of scar tissue in their palates and lips. An outline of these complications and guidelines for their treatment is illustrated in the form of three case reports from members of one family all presenting with varying cleft lip and palate defects. This article highlights the need for dental students to be exposed to dentally compromised patients so that they will feel confident enough to treat them in private practice. PMID:12800267

  10. An illusionary prosthetic design for a unilateral cleft palate patient

    Directory of Open Access Journals (Sweden)

    Andaç Barkın Bavbek

    2014-01-01

    Full Text Available The prosthetic rehabilitation is an important part of the cleft lip and palate therapy assisting orthodontic and orthognathic treatments. Prosthesis does not only help to improve function and aesthetics but also needs to facilitate a better oral health. The aim of this report is to introduce the prosthetic approach of a 21-year-old female unilateral cleft palate patient that considered reinforcing the mobile canine adjacent to the cleft, easing the elimination of dental plaque from the remaining fistula and reaching an accurate occlusion. Facial aesthetics was established by the illusionary effect of a removable crown complex which is joined onto a fixed partial denture with a precision attachment system.

  11. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis.

    Science.gov (United States)

    Solanki, Shailesh; Babu, M Narendra; Gowrishankar; Ramesh, S

    2016-01-01

    A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis. PMID:27274132

  12. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    Directory of Open Access Journals (Sweden)

    Shailesh Solanki

    2016-01-01

    Full Text Available A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis.

  13. Presurgical nasoalveolar moulding treatment in cleft lip and palate patients

    Directory of Open Access Journals (Sweden)

    Grayson Barry

    2009-10-01

    Full Text Available Presurgical infant orthopedics has been employed since 1950 as an adjunctive neonatal therapy for the correction of cleft lip and palate. Most of these therapies did not address deformity of the nasal cartilage in unilateral and bilateral cleft lip and palate as well as the deficiency of the columella tissue in infants with bilateral cleft. The nasolaveolar molding (NAM technique a new approach to presurgical infant orthopedics developed by Grayson reduces the severity of the initial cleft alveolar and nasal deformity. This enables the surgeon and the patient to enjoy the benefits associated with repair of a cleft deformity that is minimal in severity. This paper will discuss the appliance design, clinical management and biomechanical principles of nasolaveolar molding therapy. Long term studies on NAM therapy indicate better lip and nasal form, reduced oronasal fistula and labial deformities, 60 % reduction in the need for secondary alveolar bone grafting. No effect on growth of midface in sagittal and vertical plane has been recorded up to the age of 18 yrs. With proper training and clinical skills NAM has demonstrated tremendous benefit to the cleft patients as well as to the surgeon performing the repair.

  14. Feeding obturator appliance for an infant with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    P Chandna

    2011-01-01

    Full Text Available Clefts of the palate, alveolus and lip are some of the most frequently encountered anomalies of the face. This article presents a case report of a neonate with cleft lip and palate in whom a feeding obturator was delivered. This article demonstrates the indications, construction, and benefits of a palatal obturator in an 11-day-old infant with a bilateral cleft lip and palate.

  15. Occipital meningoencephalocele with Cleft Lip, Cleft Palate and Limb Abnormalities- A Case Report.

    Science.gov (United States)

    Ganapathy, Arthi; T, Sadeesh; Swer, Mary Hydrina; Rao, Sudha

    2014-12-01

    A 21-week-old still born female fetus with occipital encepholocele, cleft lip and cleft palate was received from the Department of Obstetrics and Gynecology, Mahatma Gandhi Medical College and Research Institute, Pondicherry and was studied in detail. It was born to Primigravida, of a second degree consanguineous marriage, with unremarkable family history. The biometric measurements were noted which corresponded to the age of the fetus. Further the fetus was embalmed and dissected. On examination an encephalocele of 2.7×1.5 cm was seen in the occipital region with a midline defect in the occipital bone and herniated brain tissue. Other anomalies observed were right unilateral cleft lip, right cleft palate, and bilateral syndactyly of the lower limbs and associated Congenital Talipus Equino Varus of the right foot. Other internal organs were developed appropriate for the age of the fetus.

  16. Growth hormone deficiency in cleft lip and palate patients

    Directory of Open Access Journals (Sweden)

    Shahin AbdollahiFakhim

    2015-11-01

    Full Text Available Introduction: Failure to thrive (FTT is relatively common among cleft patients, most commonly attributed to feeding problems during the first months of life. Close association between midline clefts and pituitary gland abnormalities prompted us to determine the frequency of growth hormone deficiency in cleft patients, which is easily treated. Methods: Any cleft patient with FTT was studied and when the patient’s height was under the 3rd percentile of normal, growth hormone was checked after clonidine administration. Growth hormone was checked before and 30, 60 and 90 minutes after clonidine use. Results: Of 670 patients with cleft lip or palate, 31 patients (4% had some kind of growth retardation according to weight, height or head circumstance. Eighteen patients were under the 3rd percentile of normal height. Growth hormone deficiency was detected in 8 patients out of 18 patients and overall frequency of growth hormone deficiency among cleft patients with growth retardation was 25.8% (8 out of 31. Seven patients of 8 were male whereas one was female and half of the patients were syndromic. Conclusion: Cleft patients have many problems with normal feeding and all kind of support should be provided to achieve near-normal feeding and they should be monitored for normal growth. Any patient with growth retardation, especially height decrease, should be assessed for growth hormone deficiency.

  17. Closure of Huge Palatal Fistula in an Adult Patient with Isolated Cleft Palate: A Technical Note

    OpenAIRE

    Amin Rahpeyma, DDS; Saeedeh Khajehahmadi, DDS

    2015-01-01

    Summary: Closure of huge palatal fistula surrounded by fully erupted permanent dentition in the adult patients with cleft is a challenge. Posteriorly based buccinator myomucosal flap is a neurovascular pedicled flap, with inherent nature of thin thickness, saliva secretion, and axial pattern blood supply. Vicinity of donor site to the palate and low donor-site morbidity are the other advantages. It is an ideal choice in such situation. In this article, the details of surgical technique and th...

  18. Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate.

    Directory of Open Access Journals (Sweden)

    Galen W Heyne

    Full Text Available The Hedgehog (Hh signaling pathway mediates multiple spatiotemporally-specific aspects of brain and face development. Genetic and chemical disruptions of the pathway are known to result in an array of structural malformations, including holoprosencephaly (HPE, clefts of the lip with or without cleft palate (CL/P, and clefts of the secondary palate only (CPO. Here, we examined patterns of dysmorphology caused by acute, stage-specific Hh signaling inhibition. Timed-pregnant wildtype C57BL/6J mice were administered a single dose of the potent pathway antagonist vismodegib at discrete time points between gestational day (GD 7.0 and 10.0, an interval approximately corresponding to the 15th to 24th days of human gestation. The resultant pattern of facial and brain dysmorphology was dependent upon stage of exposure. Insult between GD7.0 and GD8.25 resulted in HPE, with peak incidence following exposure at GD7.5. Unilateral clefts of the lip extending into the primary palate were also observed, with peak incidence following exposure at GD8.875. Insult between GD9.0 and GD10.0 resulted in CPO and forelimb abnormalities. We have previously demonstrated that Hh antagonist-induced cleft lip results from deficiency of the medial nasal process and show here that CPO is associated with reduced growth of the maxillary-derived palatal shelves. By defining the critical periods for the induction of HPE, CL/P, and CPO with fine temporal resolution, these results provide a mechanism by which Hh pathway disruption can result in "non-syndromic" orofacial clefting, or HPE with or without co-occurring clefts. This study also establishes a novel and tractable mouse model of human craniofacial malformations using a single dose of a commercially available and pathway-specific drug.

  19. Definition of Critical Periods for Hedgehog Pathway Antagonist-Induced Holoprosencephaly, Cleft Lip, and Cleft Palate

    Science.gov (United States)

    Heyne, Galen W.; Melberg, Cal G.; Doroodchi, Padydeh; Parins, Kia F.; Kietzman, Henry W.; Everson, Joshua L.; Ansen-Wilson, Lydia J.; Lipinski, Robert J.

    2015-01-01

    The Hedgehog (Hh) signaling pathway mediates multiple spatiotemporally-specific aspects of brain and face development. Genetic and chemical disruptions of the pathway are known to result in an array of structural malformations, including holoprosencephaly (HPE), clefts of the lip with or without cleft palate (CL/P), and clefts of the secondary palate only (CPO). Here, we examined patterns of dysmorphology caused by acute, stage-specific Hh signaling inhibition. Timed-pregnant wildtype C57BL/6J mice were administered a single dose of the potent pathway antagonist vismodegib at discrete time points between gestational day (GD) 7.0 and 10.0, an interval approximately corresponding to the 15th to 24th days of human gestation. The resultant pattern of facial and brain dysmorphology was dependent upon stage of exposure. Insult between GD7.0 and GD8.25 resulted in HPE, with peak incidence following exposure at GD7.5. Unilateral clefts of the lip extending into the primary palate were also observed, with peak incidence following exposure at GD8.875. Insult between GD9.0 and GD10.0 resulted in CPO and forelimb abnormalities. We have previously demonstrated that Hh antagonist-induced cleft lip results from deficiency of the medial nasal process and show here that CPO is associated with reduced growth of the maxillary-derived palatal shelves. By defining the critical periods for the induction of HPE, CL/P, and CPO with fine temporal resolution, these results provide a mechanism by which Hh pathway disruption can result in “non-syndromic” orofacial clefting, or HPE with or without co-occurring clefts. This study also establishes a novel and tractable mouse model of human craniofacial malformations using a single dose of a commercially available and pathway-specific drug. PMID:25793997

  20. Investigations on the palatal rugae pattern in cleft patients. Part I: A morphological analysis.

    Science.gov (United States)

    Kratzsch, H; Opitz, C

    2000-01-01

    The characteristics of the palatal rugae zone (number of rugae, relief type, posterior limitation) were investigated on the maxillary casts of 44 patients with unilateral cleft lip and palate and 28 patients with bilateral clefts by means of reflex microscopy, a three-dimensional, computer-assisted, touch-free measuring system for the metrical registration and analysis of the parameters directly on the maxillary casts for the segments of the 2 cleft groups. The features "number of palatal rugae" and "relief type" (primary rugae) were determined both before and after surgical repair of the cleft palate. Both segments in unilateral cleft lip and palate and both lateral segments in bilateral clefts most commonly had 4 to 5 palatal rugae. The number of rugae in cleft patients is thus in a range that other authors have reported for non-cleft individuals. Following palatal cleft repair, the rugae counts per segment decreased significantly in patients with unilateral and bilateral cleft lip and palate but the 3rd rugae was never lost after surgery. The relief type identified in unilateral and bilateral cleft lip and palate was the same as in isolated cleft palates and did not differ from that in non-cleft subjects. The posterior limitation of the palatal rugae zone was determined both in a tooth-defined manner and as an absolute linear distance (at all time points). The most frequent tooth-defined posterior limitation of the rugae zone in unilateral and bilateral clefts was the second deciduous molar, which is also the position identified for non-cleft individuals. The linear distance from the tuberosity line to the rugae zone increased in all segments of unilateral and bilateral clefts during the interval up to palatal cleft repair, indicating sagittal maxillary development in the posterior area of the palate. Surgical repair of the cleft palate resulted in a significant shortening of the distance in both segments of the unilateral cleft, most likely due to the

  1. Epidemiology, Etiology, and Treatment of Isolated Cleft Palate

    OpenAIRE

    Burg, Madeleine L.; Chai, Yang; Yao, Caroline A.; Magee, William; Figueiredo, Jane C.

    2016-01-01

    Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born wi...

  2. Epidemiology, Etiology and Treatment of Isolated Cleft Palate

    OpenAIRE

    Burg, Madeleine L.; Yang eChai; Caroline eYao; William eMagee; Figueiredo, Jane C.

    2016-01-01

    Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of children born...

  3. Contractile properties of single permeabilized muscle fibers from congenital cleft palates and normal palates of Spanish goats

    Science.gov (United States)

    A goat model in which cleft palate is induced by the plant alkaloid, anabasine was used to determine muscle fiber integrity of the levator veli palatine muscle. It was determined that the muscle fibers of the cleft palate-induced goats were primarily of the type 2 (fast fibers) which fatigue easil...

  4. Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate

    Science.gov (United States)

    Sá, Jamile; Araújo, Luana; Guimarães, Laís; Maranhão, Samário; Lopes, Gabriela; Medrado, Alena; Coletta, Ricardo

    2016-01-01

    Background Individuals with non syndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Material and Methods Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Results Dental anomalies were found in 88.2% (n=157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, p<0.0001), bilateral complete CLP (p=0.0002) and bilateral incomplete CLP (p< 0.0001) were more affected by tooth agenesis than individuals with other cleft types. The maxillary lateral incisors were the most affected teeth (p<0.0001). Conclusions The present study revealed a high frequency of dental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P. Key words:Nonsyndromic cleft lip with or without palate, dental anomaly, tooth agenesis, microdontia. PMID:26615505

  5. Weight Gain in Children with Cleft Lip and Palate without Use of Palatal Plates

    Directory of Open Access Journals (Sweden)

    Renato da Silva Freitas

    2012-01-01

    Full Text Available Goals/Background. To evaluate children’s growth in the first year of life, who have cleft palate and lip, without the use of palatal plates. Materials/Method. Chart review was conducted, retrospectively, in the Center for Integral Assistance of Cleft Lip and Palate (CAIF, in Brazil, between 2008 and 2009. Results for both genders were compared to the data published by the World Health Organization (WHO regarding average weight gain in children during their first year of life. Results. Patients with syndromic diagnosis and with cleft classified as preforamen were excluded, resulting in a final number of 112 patients: 56 male and 56 female. Similar patterns were seen comparing the two genders. Although it was observed weight gain below the average until the 11th month in male patients and until 9 months in female patients, both genders remained at the 50th percentile (p50 and improved after the 4th month of age for boys and the 9th month of age for girls. Conclusion. Children with cleft palate weigh less than regular children during their first months of life. At the end of the first year, weight gain is similar comparing normal and affected children. However, factors that optimized weight gain included choosing the best treatment for each case, proper guidance, and multiprofessional integrated care.

  6. Presurgical nasoalveolar molding in unilateral cleft lip and palate

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    Rahul J Hegde

    2015-01-01

    Full Text Available Unilateral cleft lip and palate (UCLP patients have an esthetic and functional compromise of the middle third of the face and nasal structures. To improve the esthetic result of lip repair, the concept of presurgical nasoalveolar molding (PNAM was brought into conception. PNAM is an easy and passive method of bringing the alveolus and lips together by redirecting the forces of natural growth. This case report documents a 2-year follow-up of PNAM in UCLP.

  7. Presurgical nasoalveolar molding in unilateral cleft lip and palate

    Science.gov (United States)

    Hegde, Rahul J.; Kharkar, Viraj R.; Kamath, Shamika

    2015-01-01

    Unilateral cleft lip and palate (UCLP) patients have an esthetic and functional compromise of the middle third of the face and nasal structures. To improve the esthetic result of lip repair, the concept of presurgical nasoalveolar molding (PNAM) was brought into conception. PNAM is an easy and passive method of bringing the alveolus and lips together by redirecting the forces of natural growth. This case report documents a 2-year follow-up of PNAM in UCLP. PMID:26681868

  8. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome

    Directory of Open Access Journals (Sweden)

    Mohita Marwaha

    2012-01-01

    Full Text Available The ectodermal dysplasias (EDs are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.

  9. Social motivation in individuals with isolated cleft lip and palate

    OpenAIRE

    van der Plas, Ellen; Koscik, Timothy R.; Conrad, Amy L.; Moser, David; Nopoulos, Peg

    2013-01-01

    Social isolation is common among individuals with isolated cleft lip and palate (ICLP), but the available data on why this may be are mixed. We present a novel theory relating to reduced social motivation in ICLP, called the social abulia hypothesis. Based on this hypothesis, we predicted that reduced social motivation would lead to reduced responsiveness to negative social feedback, both in terms of explicit responses and non-controlled, psychophysiological responses.

  10. Strategies for Treating Compensatory Articulation in Patients with Cleft Palate

    OpenAIRE

    Del Carmen Pamplona, Maria; Ysunza, Antonio; Morales, Santiago

    2014-01-01

    Patients with cleft palate frequently show compensatory articulation (CA). CA requires a prolonged period of speech intervention. Some scaffolding strategies can be useful for correcting placement and manner of articulation in these cases. The purpose of this paper was to study whether the use of specific strategies of speech pathology can be more effective if applied according to the level of severity of CA. Ninety patients with CA were studied in two groups. One group was treated using stra...

  11. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome)

    OpenAIRE

    Mohita Marwaha; Kanwar Deep Singh Nanda

    2012-01-01

    The ectodermal dysplasias (EDs) are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.

  12. Bite force evaluation in subjects with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Carla Renata Sipert

    2009-04-01

    Full Text Available The purpose of this study was to evaluate the masticatory function of subjects with cleft lip and palate by analyzing the bite force developed by these individuals. Bite force was evaluated in a group of 27 individuals with repaired unilateral cleft lip and palate (14 males and 13 females - aged 18-26 years and compared to the data achieved from a group of 20 noncleft subjects (10 males and 10 females - aged 18-26 years. Measurement was achieved on three positions within the dental arch (incisors, right molars and left molars, three times at each position considering the highest value for each one. Statistical analysis was performed by ANOVA and Mann-Whitney test ( α = 5%. There was a significant deficit in bite force in male individuals with cleft lip and palate compared to the male control group (p=0.02, p=0.004, p=0.003 for incisors, right and left molars, respectively. For the female group, the difference was not statistically significant (p=0.79, p=0.06, p=0.47. In the group of individuals with clefts, 92.6% were under orthodontic treatment, which could be a reason for the present findings, since it can decrease the bite force more remarkably in males than in females. In conclusion, the bite force is significantly reduced in men when comparing the cleft group to the noncleft group. In females, this reduction was not significant in the same way. However, the main reason for this reduction and for the different behavior between genders should be further investigated.

  13. Application of palatal RB obturator in babies with isolated palatal cleft

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    Radojičić Julija

    2009-01-01

    Full Text Available Background. Isolated cleft of secondary palate has a specific clinical picture due to a wide communication between the mouth and nose cavity. As a consequence of that, babies born with this malformation are often subject to infections of the upper bronchial tubes, middle ear, speech disorders, and certainly the most difficult existential problem they face at the very beginning of their lives, the impossibility of suckling (breast feeding. Such babies have to be fed with gastric probe. The difficulties in their nutrition have often been described in literature, yet a singular attitude toward early orthodontic therapy has not been adopted still. The aim of the paper was to describe a design and application of obturator immediately after the birth of a baby with isolated palatal cleft, and the role in feeding. Case report. We presented a female neonate, born on 27th December 2007, with a wide fissure in the shape of the letter U over the entire secondary palate. The baby was referred to the Stomatology Clinic due to nutrition impossibility. To avoid feeding with gastric probe, the formation of RB obturator was performed (artificial palate. Hereby, the procedure of obturator making with an explanation of its function is presented. Conclusion. The application of RB obturator and the necessary education of parents have a major role in shortening the time of breast feeding and increasing the amount of food intake and, thus, for the normal growth and development of newborn infants with isolated palate cleft.

  14. Correlations between initial cleft size and dental anomalies in unilateral cleft lip and palate patients after alveolar bone grafting

    Science.gov (United States)

    Jabbari, Fatima; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

    2016-01-01

    Objective To determine in individuals with unilateral cleft lip and palate the correlation between initial cleft size and dental anomalies, and the outcome of alveolar bone grafting. Methods A total of 67 consecutive patients with non-syndromic unilateral complete cleft lip and palate (UCLP) were included from the cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. All patients were operated by the same surgeon and treated according to the Uppsala protocol entailing: lip plasty at 3 months, soft palate closure at 6 months, closure of the residual cleft in the hard palate at 2 years of age, and secondary alveolar bone grafting (SABG) prior to the eruption of the permanent canine. Cleft size was measured on dental casts obtained at the time of primary lip plasty. Dental anomalies were registered on radiographs and dental casts obtained before bone grafting. Alveolar bone height was evaluated with the Modified Bergland Index (mBI) at 1 and 10-year follow-up. Results Anterior cleft width correlated positively with enamel hypoplasia and rotation of the central incisor adjacent to the cleft. There was, however, no correlation between initial cleft width and alveolar bone height at either 1 or 10 years follow-up. Conclusions Wider clefts did not seem to have an impact on the success of secondary alveolar bone grafting but appeared to be associated with a higher degree of some dental anomalies. This finding may have implications for patient counseling and treatment planning. PMID:26923345

  15. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

    OpenAIRE

    P K Shivaprakash; Joshi, Hrishikesh V.; Hina Noorani; Venugopal Reddy

    2012-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approa...

  16. [Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity].

    Science.gov (United States)

    Meza Escobar, Luis Enrique; Isaza, Carolina; Pachajoa, Harry

    2012-10-01

    The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary. PMID:23070194

  17. Maxillary Arch Dimensions and Spectral Characteristics of Children with Cleft Lip and Palate Who Produce Middorsum Palatal Stops

    Science.gov (United States)

    Zajac, David J.; Cevidanes, Lucia; Shah, Sonam; Haley, Katarina L.

    2012-01-01

    Purpose: The purpose of this study was twofold: (a) to determine maxillary arch dimensions of children with repaired cleft lip and palate (CLP) who produced middorsum palatal stops and (b) to describe some spectral characteristics of middorsum palatal stops. Method: Maxillary arch width, length, and height dimensions and first spectral moments of…

  18. Cleft lip and palate: recommendations for dental anesthetic procedure based on anatomic evidences

    Directory of Open Access Journals (Sweden)

    Ivy Kiemle Trindade-Suedam

    2012-02-01

    Full Text Available Patients with cleft lip and palate usually present dental anomalies of number, shape, structure and position in the cleft area and the general dentist is frequently asked to restore or extract those teeth. Considering that several anatomic variations are expected in teeth adjacent to cleft areas and that knowledge of these variations by general dentists is required for optimal treatment, the objectives of this paper are: 1 to describe changes in the innervation pattern of anterior teeth and soft tissue caused by the presence of a cleft, 2 to describe a local anesthetic procedure in unilateral and bilateral clefts, and 3 to provide recommendations to improve anesthetic procedures in patients with cleft lip and palate. The cases of 2 patients are presented: one with complete unilateral cleft lip and palate, and the other with complete bilateral cleft lip and palate. The patients underwent local anesthesia in the cleft area in order to extract teeth with poor bone support. The modified anesthetic procedure, respecting the altered course of nerves in the cleft maxilla and soft tissue alterations at the cleft site, was accomplished successfully and the tooth extraction was performed with no pain to the patients. General dentists should be aware of the anatomic variations in nerve courses in the cleft area to offer high quality treatment to patients with cleft lip and palate.

  19. Epidemiology, Etiology and Treatment of Isolated Cleft Palate

    Directory of Open Access Journals (Sweden)

    Madeleine L Burg

    2016-03-01

    Full Text Available Isolated cleft palate (CPO is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of children born with cleft palate occur as part of a known genetic syndrome or with another malformation (e.g., congenital heart defects and the other half occur as solitary defects, referred to often as non-syndromic clefts. The etiology of CPO is multifactorial involving both genetic and environmental risk factors. Several animal models have yielded insight into the molecular pathways responsible for proper closure of the palate, including the BMP, TGF-β, and SHH signaling pathways. In terms of environmental exposures, only maternal tobacco smoke exposure has been found to have a strong association with CPO. Some studies have suggested that maternal glucocorticoid exposure may also be important. Clearly, there is a need for larger epidemiologic studies to further investigate both genetic and environmental risk factors and potential gene-environment interactions. In terms of treatment, there is a need for long-term comprehensive care including surgical, dental and speech pathology. Overall, five main themes emerge as critical in advancing research: (1 monitoring of the occurrence of CPO (capacity building; (2 detailed phenotyping of the severity (biology; (3 understanding of the genetic and environmental risk factors (primary prevention; (4 access to early detection and multidisciplinary treatment (clinical services; and (5 understanding predictors of recurrence and possible interventions among families with a child with CPO (secondary prevention.

  20. Epidemiology, Etiology, and Treatment of Isolated Cleft Palate.

    Science.gov (United States)

    Burg, Madeleine L; Chai, Yang; Yao, Caroline A; Magee, William; Figueiredo, Jane C

    2016-01-01

    Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born with cleft palate occur as part of a known genetic syndrome or with another malformation (e.g., congenital heart defects) and the other half occur as solitary defects, referred to often as non-syndromic clefts. The etiology of CPO is multifactorial involving genetic and environmental risk factors. Several animal models have yielded insight into the molecular pathways responsible for proper closure of the palate, including the BMP, TGF-β, and SHH signaling pathways. In terms of environmental exposures, only maternal tobacco smoke has been found to be strongly associated with CPO. Some studies have suggested that maternal glucocorticoid exposure may also be important. Clearly, there is a need for larger epidemiologic studies to further investigate both genetic and environmental risk factors and gene-environment interactions. In terms of treatment, there is a need for long-term comprehensive care including surgical, dental and speech pathology. Overall, five main themes emerge as critical in advancing research: (1) monitoring of the occurrence of CPO (capacity building); (2) detailed phenotyping of the severity (biology); (3) understanding of the genetic and environmental risk factors (primary prevention); (4) access to early detection and multidisciplinary treatment (clinical services); and (5) understanding predictors of recurrence and possible interventions among families with a child with CPO (secondary prevention). PMID:26973535

  1. Phonetic description of babbling in Danish toddlers born with and without unilateral cleft lip and palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Albrechstn, Helle

    2006-01-01

    Objective: To investigate prelinguistic vocalization sequences of 1-year-old children with and without cleft lip and palate. Design: Prospective study. Participants: Thirty-eight children born with unilateral cleft lip and palate and 36 control children born without clefts. The cleft children had...... the lip, soft palate, and posterior part of the hard palate repaired at 4 months of age. The lip was closed ad modum Millard, the nose was corrected according to McComb, and the soft palate was closed with a posteriorly based vomer flap. Methods: Data were obtained from a clinical visit during which...... of occurrence of nasal contoids and a smaller frequency of occurrence of alveolar contoids in the cleft group. Canonical babbling was achieved by most children in both groups, and no significant difference was found between the groups. Conclusions: Early closure of the soft palate seems to have a positive...

  2. Development of the first permanent mandibular molar in young children with unilateral complete cleft lip and palate (UCCLP)

    DEFF Research Database (Denmark)

    Hermann, Nuno Vibe; Darvann, Tron A; Kreiborg, Sven

    Development of the first permanent mandibular molar in young children with unilateral complete cleft lip and palate (UCCLP)......Development of the first permanent mandibular molar in young children with unilateral complete cleft lip and palate (UCCLP)...

  3. A Retrospective Study of Cleft lip and palate Patients' Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla

    DEFF Research Database (Denmark)

    Andersen, Kristian; Nørholt, Sven Erik; Küseler, Annelise;

    2012-01-01

    A Retrospective Study of Cleft lip and palate Patients' Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla......A Retrospective Study of Cleft lip and palate Patients' Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla...

  4. Pre-speech in children with cleft lip and palate or cleft palate only: phonetic analysis related to morphologic and functional factors.

    Science.gov (United States)

    Lohmander-Agerskov, A; Söderpalm, E; Friede, H; Persson, E C; Lilja, J

    1994-07-01

    Pre-speech in 35 children with clefts of the lip and palate or palate only were analyzed for place and manner of articulation. Transcriptions were made from tape recorded babbling sequences. Two children without clefts were used as reference. All of the children with clefts were treated according to a regimen of early surgical repair of the velum cleft and delayed closure of the cleft in the hard palate. The frequency of selected phonetic features was calculated. Correlations between phonetic/perceptual and functional and morphological factors were tested. Supraglottal articulation dominated among all the children indicating a sufficient velopharyngeal mechanism. The results also showed correlations between cleft type and place of articulation. Anteriorly placed sounds (i.e., bilabial, dental, and alveolar sounds) occurred frequently among the children with cleft palate only and in the noncleft children. In children with cleft lip and palate, posteriorly placed articulations predominated. It was postulated that early intervention may have a positive effect on articulatory development.

  5. Closure of huge palatal fistula in an adult patient with isolated cleft palate: a technical note.

    Science.gov (United States)

    Rahpeyma, Amin; Khajehahmadi, Saeedeh

    2015-02-01

    Closure of huge palatal fistula surrounded by fully erupted permanent dentition in the adult patients with cleft is a challenge. Posteriorly based buccinator myomucosal flap is a neurovascular pedicled flap, with inherent nature of thin thickness, saliva secretion, and axial pattern blood supply. Vicinity of donor site to the palate and low donor-site morbidity are the other advantages. It is an ideal choice in such situation. In this article, the details of surgical technique and the effectiveness of this method are presented. PMID:25750845

  6. Closure of Huge Palatal Fistula in an Adult Patient with Isolated Cleft Palate: A Technical Note

    Directory of Open Access Journals (Sweden)

    Amin Rahpeyma, DDS

    2015-02-01

    Full Text Available Summary: Closure of huge palatal fistula surrounded by fully erupted permanent dentition in the adult patients with cleft is a challenge. Posteriorly based buccinator myomucosal flap is a neurovascular pedicled flap, with inherent nature of thin thickness, saliva secretion, and axial pattern blood supply. Vicinity of donor site to the palate and low donor-site morbidity are the other advantages. It is an ideal choice in such situation. In this article, the details of surgical technique and the effectiveness of this method are presented.

  7. Epidemiologic Research on Malformations Associated with Cleft Lip and Cleft Palate in Japan

    Science.gov (United States)

    Koga, Hiroshi; Iida, Koichi; Maeda, Tomoki; Takahashi, Mizuho; Fukushima, Naoki; Goshi, Terufumi

    2016-01-01

    To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by

  8. Perception of Place of Articulation by Children with Cleft Palate and Posterior Placement.

    Science.gov (United States)

    Whitehill, Tara L.; Francis, Alexander L.; Ching, Christine K-Y.

    2003-01-01

    A study examined if 10 children (ages 4-12) with repaired cleft palate who demonstrate posterior placement of alveolar targets differed from 10 children with cleft palate without such error patterns, and from 10 controls in the perception of alveolar targets. Children with posterior placement appeared unable to distinguish alveolar targets.…

  9. Nasalance Scores of Children with Repaired Cleft Palate Who Exhibit Normal Velopharyngeal Closure during Aerodynamic Testing

    Science.gov (United States)

    Zajac, David J.

    2013-01-01

    Purpose: To determine if children with repaired cleft palate and normal velopharyngeal (VP) closure as determined by aerodynamic testing exhibit greater acoustic nasalance than control children without cleft palate. Method: Pressure-flow procedures were used to identify 2 groups of children based on VP closure during the production of /p/ in the…

  10. EVIDENCE FOR EGFR PATHWAY MEDIATION OF CLEFT PALATE INDUCTION BY TCDD

    Science.gov (United States)

    EVIDENCE FOR EGFR PATHWAY MEDIATION OF CLEFT PALATE INDUCTION BY TCDD. B D Abbott, A R Buckalew, and K E Leffler. RTD, NHEERL, ORD,US EPA, RTP, NC, USA.2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) is teratogenic in C57BL/6J mice, producing cleft palate (CP) after exposure...

  11. Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency

    Directory of Open Access Journals (Sweden)

    Pablo Antonio Ysunza

    2015-01-01

    Full Text Available Background. One of the most controversial topics concerning cleft palate is the diagnosis and treatment of velopharyngeal insufficiency (VPI. Objective. This paper reviews current genetic aspects of cleft palate, imaging diagnosis of VPI, the planning of operations for restoring velopharyngeal function during speech, and strategies for speech pathology treatment of articulation disorders in patients with cleft palate. Materials and Methods. An updated review of the scientific literature concerning genetic aspects of cleft palate was carried out. Current strategies for assessing and treating articulation disorders associated with cleft palate were analyzed. Imaging procedures for assessing velopharyngeal closure during speech were reviewed, including a recent method for performing intraoperative videonasopharyngoscopy. Results. Conclusions from the analysis of genetic aspects of syndromic and nonsyndromic cleft palate and their use in its diagnosis and management are presented. Strategies for classifying and treating articulation disorders in patients with cleft palate are presented. Preliminary results of the use of multiplanar videofluoroscopy as an outpatient procedure and intraoperative endoscopy for the planning of operations which aimed to correct VPI are presented. Conclusion. This paper presents current aspects of the diagnosis and management of patients with cleft palate and VPI including 3 main aspects: genetics and genomics, speech pathology and imaging diagnosis, and surgical management.

  12. Velopharyngeal sphincter pathophysiologic aspects in the in cleft palat

    Directory of Open Access Journals (Sweden)

    Collares, Marcus Vinicius Martins

    2008-09-01

    Full Text Available Introduction: Cleft lip and palate are common congenital abnormalities with typical functional disorders on speech, deglutition and middle ear function. Objective: This article reviews functional labiopalatine disorders through a pathophysiological view. Method: We performed a literature search on line, as well as books and periodicals related to velopharyngeal sphincter. Our sources were LILACS, MEDLINE and SciELO databases, and we applied to the research Keywords of interest on the velopharyngeal pathophysiology, for articles published between 1965 and 2007. Conclusion: Velopharyngeal sphincter plays a central role in speech, swallowing and middle ear physiology in patients with labiopalatine cleft. At the end of our bibliographic review, pursuant to the velopharyngeal physiology in individuals with this disorder in the functional speech, deglutition and otologic function, we observed that although there is a great number of published data discussing this issue, further studies are necessary to completely understand the pathophysiology, due to the fact they have been exploited superficially.

  13. The Impact of Early Intervention on Speech and Lexical Development for Toddlers with Cleft Palate: A Retrospective Look at Outcome

    Science.gov (United States)

    Hardin-Jones, Mary; Chapman, Kathy L.

    2008-01-01

    Purpose: The purpose of the present investigation was to examine the impact of early intervention on speech and lexical measures for toddlers with cleft palate. Method: Speech measures of ten 27-month-old toddlers with cleft palate who had been referred for therapy at 17 months of age were compared to those of 10 toddlers with cleft palate who had…

  14. Feeding considerations in infants born with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    M Subramanya Shetty

    2016-01-01

    Full Text Available Infants born with the congenital deformity of cleft lip and or palate suffer from varieties of complications since the day 1 of their life. The most important of which is the feeding difficulty which leads to insufficient food intake and thereby causing deleterious effects on their overall development leading to malnutrition and death in some cases. However, research into the anatomical variations of these infants in the region of lip and palate has led to the development of several types of feeders and their modifications which would help them thrive well in the initial days and also for later. Hence, it is worth important to know about them in detail and help these infants and their families psychologically so that the infants do not suffer from feeding difficulties anymore.

  15. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

    DEFF Research Database (Denmark)

    Beaty, Terri H; Murray, Jeffrey C; Marazita, Mary L;

    2010-01-01

    Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0...... and ABCA4. Expression studies support a role for MAFB in palatal development....

  16. Considerations Regarding Age at Surgery and Fistula Incidence Using One- and Two-stage Closure for Cleft Palate

    Directory of Open Access Journals (Sweden)

    Simona Stoicescu

    2013-12-01

    Full Text Available Introduction: Although cleft lip and palate (CLP is one of the most common congenital malformations, occurring in 1 in 700 live births, there is still no generally accepted treatment protocol. Numerous surgical techniques have been described for cleft palate repair; these techniques can be divided into one-stage (one operation cleft palate repair and two-stage cleft palate closure. The aim of this study is to present our cleft palate team experience in using the two-stage cleft palate closure and the clinical outcomes in terms of oronasal fistula rate. Material and methods: A retrospective analysis was performed on medical records of 80 patients who underwent palate repair over a five-year period, from 2008 to 2012. All cleft palate patients were incorporated. Information on patient’s gender, cleft type, age at repair, one- or two-stage cleft palate repair were collected and analyzed. Results: Fifty-three (66% and twenty-seven (34% patients underwent two-stage and one-stage repair, respectively. According to Veau classification, more than 60% of them were Veau III and IV, associating cleft lip to cleft palate. Fistula occurred in 34% of the two-stage repairs versus 7% of one-stage repairs, with an overall incidence of 24%. Conclusions: Our study has shown that a two-stage cleft palate closure has a higher rate of fistula formation when compared with the one-stage repair. Two-stage repair is the protocol of choice in wide complete cleft lip and palate cases, while one-stage procedure is a good option for cleft palate alone, or some specific cleft lip and palate cases (narrow cleft palate, older age at surgery

  17. Cleft lip and palate review: Epidemiology, risk factors, quality of life, and importance of classifications

    Directory of Open Access Journals (Sweden)

    Laureen Supit

    2008-12-01

    Full Text Available Cleft lip with or without cleft palate is the most occurring craniofacial anomaly in human, resulting from a complex etiology involving multiple genetic and environmental factors. The defect carries lifelong morbidity and economic burden. Children with clefts will require continuous medical interventions for at least the first 18 years of life, affecting many aspects of their lives. The extent and complexity of clefts vary infinitely, later determining individual management and outcome. Identification and classification play significant roles in initial assessment of these unique cleft cases, which affect options for following correctional attempts. Some classifications even allow measurement of progress after anatomical repositioning, and success rate after surgical repairs. The challenge of developing one such widely inclusive classification is discussed. (Med J Indones 2008; 17: 226-39Keywords: Cleft lip, cleft palate, congenital anomaly, cleft  classfications

  18. Root development of permanent lateral incisor in cleft lip and palate children: A radiographic study

    Directory of Open Access Journals (Sweden)

    Amarlal Deepti

    2007-01-01

    Full Text Available Objective: The objective of this study was to compare the root development of lateral incisor on the cleft side with the root development of its contralateral tooth in cleft lip and palate children. Setting: Cleft lip and palate wing, Meenakshi Ammal Dental College and Hospital, Chennai, South India. Materials and Methods: A sample of 96 orthopantamograms of patients with unilateral or bilateral cleft lip and/or cleft palate was selected, regardless of sex and race. Main Outcome Measure: Orthopantamograms were analyzed for root development of lateral incisor on the cleft and noncleft side. Associated anomalies like hypodontia, supernumerary teeth, malformed lateral incisors and root development of canine, if present, were recorded. Findings and Conclusions: Root development of permanent lateral incisor was delayed on the cleft side compared to the noncleft side. There was a statistically significant relationship between levels of root development of lateral incisors on the cleft side within the different study groups ( P < 0.05. Incidence of hypodontia increased in proportion to cleft severity. Frequency of missing second premolars, supernumerary teeth and malformed lateral incisors increased in cleft lip and palate patients. Root development of canine showed a slight delay on the cleft side when compared to the canine on the noncleft side.

  19. Un Futuro Prometedor para su Nino con Labio Hendido y Paladar Hendido. Edicion Refundida (Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition).

    Science.gov (United States)

    McDonald, Eugene T.; Berlin, Asa J.

    The booklet, written in Spanish, is intended to help parents of babies with cleft lip and/or cleft palate. Topics covered include the sequence of prenatal development and the effects of birth defects, common misconceptions about what causes the conditions, possible hereditary and environmental causes, and what it means to have a cleft palate or a…

  20. Frequency of homologous blood transfusion in patients undergoing cleft lip and palate surgery

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    Adeyemo Wasiu

    2010-01-01

    Full Text Available Aim: The study aims to determine the frequency of homologous blood transfusion in patientsundergoing cleft lip and palate surgery at the Lagos University Teaching Hospital, Nigeria. Setting and Design: A prospective study of transfusion rate in cleft surgery conducted at the Lagos University Teaching Hospital, Nigeria. Material and Methods: One hundred consecutive patients who required cleft lip and palate surgery were recruited into the study. Data collected included age, sex and weight of patients, type of cleft defects, type of surgery done, preoperative haematocrit, duration of surgery, amount of blood loss during surgery, the number of units of blood cross-matched and those used. Each patient was made to donate a unit of homologous blood prior to surgery. Results: There were 52 females and 48 males with a mean age of 64.4 ± 101.1 months (range, 3-420 months. The most common cleft defect was isolated cleft palate (45% followed by unilateral cleft lip (28%. Cleft palate repair was the most common procedure (45% followed by unilateral cleft lip repair (41%. The mean estimated blood loss was 95.8 ± 144.9 ml (range, 2-800ml. Ten (10% patients (CL=2; CP=5, BCL=1; CLP=2 were transfused but only two of these were deemed appropriate based on percentage blood volume loss. The mean blood transfused was 131.5 ± 135.4ml (range, 35-500ml. Six (60% of those transfused had a preoperative PCV of < 30%. Only 4.9% of patients who had unilateral cleft lip surgery were transfused as compared with 50% for CLP surgery, 11% for CP surgery, and 10% for bilateral cleft lip surgery. Conclusions: The frequency of blood transfusion in cleft lip and palate surgery was 10% with a cross-match: transfusion ratio of 10 and transfusion index of 0.1. A "type and screen" policy is advocated for cleft lip and palate surgery.

  1. Management of feeding Problem in a Patient with Cleft Lip/Palate.

    Science.gov (United States)

    Goswami, Mridula; Jangra, Babita; Bhushan, Urvashi

    2016-01-01

    In a child with cleft lip and/or palate, nutrition is the first priority as for any other child. These children have specific physical limitations. To fulfill their nutritional requirement, these children need modifications in order to thrive and grow. Failure to adjust to these needs could place the children into a potential life-threatening situation. One of the immediate problems to be addressed in a newborn with cleft lip/palate is difficulty in feeding. Nasal regurgitation and choking are common because of inability of the palate to separate the nasal and oral cavities. The case presented here discusses the management of feeding problem in the infant with cleft lip/palate. How to cite this article: Goswami M, Jangra B, Bhushan U. Management of feeding Problem in a Patient with Cleft Lip/ Palate. Int J Clin Pediatr Dent 2016;9(2):143-145. PMID:27365936

  2. Management of feeding Problem in a Patient with Cleft Lip/Palate

    Science.gov (United States)

    Goswami, Mridula; Bhushan, Urvashi

    2016-01-01

    ABSTRACT In a child with cleft lip and/or palate, nutrition is the first priority as for any other child. These children have specific physical limitations. To fulfill their nutritional requirement, these children need modifications in order to thrive and grow. Failure to adjust to these needs could place the children into a potential life-threatening situation. One of the immediate problems to be addressed in a newborn with cleft lip/palate is difficulty in feeding. Nasal regurgitation and choking are common because of inability of the palate to separate the nasal and oral cavities. The case presented here discusses the management of feeding problem in the infant with cleft lip/palate. How to cite this article: Goswami M, Jangra B, Bhushan U. Management of feeding Problem in a Patient with Cleft Lip/ Palate. Int J Clin Pediatr Dent 2016;9(2):143-145. PMID:27365936

  3. Surgical outcome and complications following cleft lip and palate repair in a teaching hospital in Nigeria

    Directory of Open Access Journals (Sweden)

    Taiwo O Abdurrazaq

    2013-01-01

    Full Text Available Background: Measurement of treatment outcome is important in estimating the success of cleft management. The aim of this study was to assess the surgical outcome of cleft lip and palate surgery. Patients and Methods: The surgical outcome of 131 consecutive patients with cleft lip and palate surgeries between October 2008 and December 2010 were prospectively evaluated at least 4 weeks postoperatively. Data collected included information about the age, sex, type of cleft defects, and type of surgery performed as well as postoperative complications. For cleft lip repair, the Pennsylvania lip and nose (PLAN score was used to assess the surgical outcome, while the integrity of the closure was used for cleft palate repair. Results: A total of 92 patients had cleft lip repair and 64 had palate repair. Overall, 68.8% cases of cleft lip and palate repair had good outcomes; 67.9% of lip repairs had good lip and nose scores, while 70.2% of palatal repair had a good surgical outcome. Oro-fistula was observed in 29.8% of cleft palate repairs Inter-rater reliability coefficient was substantially significant. Conclusions: The fact that 25.7% of those treated were aged >1 year suggests a continued need to enlighten the public on the availability of cleft lip and palate expertise and treatment. Although an overall good treatment outcome was demonstrated in this study, the nasal score was poorer than the lip score. Complication rate of about 14% following surgical repair is consistent with previous reports in the literature.

  4. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

    Directory of Open Access Journals (Sweden)

    P K Shivaprakash

    2012-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

  5. The impact of cleft lip and palate repair on maxillofacial growth

    Institute of Scientific and Technical Information of China (English)

    Bing Shi; Joseph E Losee

    2015-01-01

    Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects: early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate;Veau’s pushback palatoplasty and Langenbeck’s palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth;timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Still, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not.

  6. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate

    DEFF Research Database (Denmark)

    Kimani, Jane W; Shi, Min; Daack-Hirsch, Sandra;

    2007-01-01

    Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X...... palate group showing the most significant result (P = 0.01). We did not find evidence for involvement of skewed XCI in the discordance for clefting in our sample of female MZ twins. However, results from the paired sister study suggest the potential contribution of skewed XCI to orofacial clefting......, particularly cleft lip and palate....

  7. Alveolar distraction osteogenesis applications in cleft lip and palate patients: a literature review

    Directory of Open Access Journals (Sweden)

    Öznur Mülayim

    2016-05-01

    Full Text Available Distraction osteogenesis technique has been successfully applied in the craniofacial area for long time, and it is being applied increasingly more in cleft lip and palate patients also. Especially in large cleft palate cases, bone grafting or surgical procedures such as distraction osteogenesis can be applied in order to ensure a smooth alveolar arc. In this literature review, alveolar (segmental distraction osteogenesis applications in patients with cleft lip and palate, indications of the technique, advantages and disadvantages, application methods and types of appliances used for this purpose have been evaluated. As conclusion, especially with the application of alveolar (segmental distraction osteogenesis, successful outcome can be achieved in cleft lip and palate patients with velopharyngeal insufficiency, maxillary hypoplasia and maxillary crowding, and this technique may be an alternative to conventional osteotomies and extraoral distractions.

  8. Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism.

    OpenAIRE

    Buntincx, I M; Van Overmeire, B; Desager, K; Van Hauwaert, J

    1993-01-01

    We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome.

  9. Ectrodactyly, Ectodermal dysplasia, and Cleft Lip-Palate Syndrome; Its Association with Conductive Hearing Loss

    Science.gov (United States)

    Robinson, Geoffrey C.; And Others

    1973-01-01

    Conductive hearing loss associated with the ectrodactyly, ectodermal dysplasia, and cleft lip palate syndrome was reported in one sporadic case and in a pedigree with four cases in three generations. (GW)

  10. A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

    Directory of Open Access Journals (Sweden)

    Buket Uysal Aladag

    2013-06-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate. A few cases have been reported in literature. The cardinal components of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities ectodermal structures including skin (i.e. hypopigmented and dry skin, hyperkeratosis, skin atrophy, hair (sparse hair and eye brows, teeth (small, absent or dysplastic teeth, nails (nail dystrophy and exocrine glands (reduction/ absence of sweat, sebaceous and salivary glands. A multidisciplinary approach for treatment is needed which is co-ordinated by orthopedic, plastic, dental surgeons, ophthalmologist, dermatologists and speech therapists, psychologists. We presented EEC syndrome case with hydrocephaly by the literature. [Cukurova Med J 2013; 38(3.000: 531-535

  11. Prevalence of Associated Anomalies in Cleft Lip and/or Palate Patients

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    Shahin Abdollahi Fakhim

    2016-03-01

    Full Text Available Introduction: Orofacial clefts are among the most common congenital anomalies. Patients presenting with orofacial clefts often require surgery or other complex procedures. A cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. The reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnostic procedure used. In this study we determined the prevalence of associated anomalies in patients with a cleft lip and/or palate, with a specific focus on cardiac anomalies. Materials and Methods: In this cross-sectional study, 526 patients with a cleft lip and /or palate admitted to the children’s referral hospital between 2006 and 2011 were evaluated. All associated anomalies were detected and recorded. Patient information collected included age, gender, type and side of cleft, craniofacial anomalies and presence of other anomalies, including cardiac anomalies. Data were analyzed using SPSS version 16.   Results: Of the 526 patients enrolled in the study, 58% (305 were male and 42% (221 were female. In total, 75% of patients (396 were aged between 4 and 8 years and 25% (130 were aged less than 4 years. The most common cleft type in our study was bilateral cleft palate. The most commonly associated anomaly among cleft patients, in 12% of cleft patients, was a cardiac anomaly. The most common cardiac anomaly was atrial septal defect (ASD.   Conclusion:  The prevalence of associated anomalies among orofacial cleft patients is high. The most common associated anomaly is cardiac anomaly, with ASD being the most common cardiac anomaly. There are no significant relationships between type of cleft and associated cardiac anomalies.

  12. Effect of cleft lip palate repair on craniofacial growth

    Science.gov (United States)

    Naqvi, Zuber Ahamed; Shivalinga, BM; Ravi, S; Munawwar, Syeda Sarah

    2015-01-01

    Objective: The aim of this cross-sectional study was to compare craniofacial growth among operated and unoperated unilateral cleft lip and palate non-syndromic subjects. Materials and Methods: A sample of 180 subjects of Indian origin was selected. Of them, 90 were operated, and 90 were unoperated complete unilateral cleft lip and palate individuals. The subjects were divided into three age groups of 3–5, 8–10, and 20–25 years comprised of 30 patients in each group. The following measurements were evaluated: Angle and length of the cranial base; maxillary spatial positioning and length; mandibular spatial positioning; morphology and length; maxillomandibular relationship. Comparative analysis of the means between the groups was performed with Student's t-test at the significance levels of 5%. The ANOVA test has been performed to test the effect of time. Results: No significant differences were observed between the measurements that represented the angle and length of the cranial base of unoperated and the operated patients (P>0.05). There was statistically significant decrease (P˂0.05) in the maxillary length (Co-A; 69.00 mm in 3–5 years, 68.33 mm in 8–10 years, and 67.17 mm in 20–25 years age group), and SNA angle (74.83° in 3–5 years, 74.17 ° in 8–10 years and 73.17 ° in 20–25 years age group) in operated group. No significant difference noticed on cephalometric values of the mandible, except Ar-Go-Me angle (P˂0.05), which showed vertical growth pattern in unoperated patients (132.50 ° in 3–5 years, 132.00 ° I 8–10 years and 138.33 ° in 20–25 years age group). Conclusion: Lip and palate repair has a significant influence on the maxilla and resulting in retarded growth of maxilla, which causes midface deficiency beyond acceptable sagittal limits. The Gonial angle showed vertical growth pattern in unoperated patients, but the cranial base angle and length of unoperated and the operated patients were similar. PMID:26229945

  13. GFA Taq I polymorphism and cleft lip with or without cleft palate (CL/P) risk

    Science.gov (United States)

    Dong, Lijia; Ma, Lian

    2015-01-01

    The transforming growth factor alpha (TGFA) Taq I polymorphism has been indicated to be correlated with cleft lip with or without cleft palate (CL/P) susceptibility, but study results are still debatable. Thus, a meta-analysis was conducted. We conducted a comprehensive search of Embase, Ovid, Web of Science, the Cochrane database, PubMed, the Chinese Biomedical Literature Database (CBM-disc, 1979-2014), the database of National Knowledge Infrastructure (CNKI, 1979-2014) and the full paper database of Chinese Science and Technology of Chongqing (VIP, 1989-2014) to identify suitable studies. There were 18 studies suitable for this meta-analysis, involving a total of 3135 cases and 3575 controls. Significantly increased CL/P risk was observed (OR = 1.49; 95% CI 1.17-1.89; P = 0.001). In subgroup analyses stratified by ethnicity, there was evidence in the Caucasian population for an association between this polymorphism and CL/P risk (OR = 1.52; 95% CI 1.14-2.02; P = 0.004). However, no significant association was found between this his polymorphism and CL/P risk in African and Hispanic populations. According to a specific CL/P type, increased clip lip and palate risk and clip palate risk were found (OR = 1.38; 95% CI 1.10-1.73; P = 0.005; OR = 1.29; 95% CI 1.01-1.66; P = 0.042). In conclusion, the present meta-analysis found that the TGFA Taq I polymorphism may be associated with CL/P susceptibility. PMID:26064247

  14. Secondary bone grafting for alveolar cleft in children with cleft lip or cleft lip and palate

    NARCIS (Netherlands)

    J. Guo; C. Li; Q. Zhang; G. Wu; S.A. Deacon; J. Chen; H. Hu; S. Zou; Q. Ye

    2011-01-01

    BACKGROUND: Secondary alveolar bone grafting has been widely used to reconstruct alveolar cleft. However, there is still some controversy. OBJECTIVES: To compare the effectiveness and safety of different secondary bone grafting methods. SEARCH STRATEGY: The final electronic and handsearches were car

  15. Evaluation of the cephalometric changes of Tweed triangle in patients with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Mohsen Shirazi

    2015-12-01

    Full Text Available Background and Aims: Cleft lip and palate patients require orthodontic treatments during their childhood and adolescence. Tweed diagnostic triangle as well as cephalometric assessments provides important data regarding the skeletal patterns for the treatment and diagnostic purposes. The present study determined the cephalometric changes of Tweed triangle in the cleft lip and palate patients compared to normal patients. Materials and Methods: In total, 101 cleft and palate patients as well as 95 normal individuals with the balanced age, gender and race were evaluated. All the cleft and palate patients had similar treatment histories. Radiographic clichés were obtained from both groups and the images were traced after identifying the anatomic landmarks. The studied landmarks included points, lines, and plans as well as dental and skeletal angles and distance ratios measured in radiographic images. The landmarks were statistically analyzed using Student t test. Results: Significant differences were found between the cleft lip and palate patients and normal individuals regarding craniofacial complex morphology (P0.05. Conclusion: In total, significant differences were observed between normal and cleft lip and palate individuals regarding Tweed diagnostic triangle area. These differences were decreased IMPA and increased FMA and FMIA angles. No significant differences were found in terms of other indices.

  16. Six years analysis of cleft palate in a university hospital center

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    Farahvash M

    1999-08-01

    Full Text Available Cleft palate is a congenital condition that occurs with the incidence rate of one out of 2000 births. This anomaly produces intraoral pressure changes (increase or decrease, can cause speech, sucking and feeding problems of involved patient. On the other hand, if cleft palate is associated with cleft of the lip or alveolar area, growth and alignment of teeth may change the appearance of the patient and affect the psychologic and occupational future of the patient. Eustatian tube malfunction in involved neonates increase. Many procedures are used to repair the cleft palate and correction of palatal muscles which are: 1 Von Langenbeck (18.5%. 2 Veau-Wardil-Kilner (72.5%. 3 Double opposing Z-Plasty (9%. In this research the demographic criteria of patients including age of the patient at operation rime (mean age 30.14 months, city of residence, family history of cleft palate (12.4%, familial relation of parents (15.2%, associated anomalies, complete or incomplete lesion, weight of patients at the time of surgery (mean 11.28 Kg, hemoglobin (11.3 mg/dl, complications, otitis media and the side of cleft palate are studied in 178 admitted patients to Imam General Hospital between 1989 and 1995.

  17. ENDOTRACHEAL INTUBATION IN A CHILD HAVING OCCIPITAL ENCEPHALOCELE WITH BILATERAL CLEFT LIP AND CLEFT PALATE: A CASE REPORT

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    Shridhar N

    2014-11-01

    Full Text Available : Basically endotracheal intubation in pediatric age group especially in infants is difficult due to large head, relatively large tongue, anteriorly placed larynx, longer and stiffer epiglottis which protrudes at 450 angle and short neck. When such pediatric patient comes with craniofacial congenital malformations, the management of airway becomes more challenging. Here we report a case of occipital encephalocele associated with bilateral cleft lip and cleft palate coming for V P shunt procedure.

  18. Comparison of oral hygiene and periodontal status in patients with clefts of palate and patients with unilateral cleft lip, palate and alveolus

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    Mutthineni Ramesh

    2010-01-01

    Full Text Available Aim: This study was conducted to analyze and compare the oral hygiene and periodontal status in patients with clefts of palate (CP and patients with unilateral cleft lip, palate and alveolus (UCLPA. Materials and Methods: The study group consisted of 120 cleft patients. Subjects were divided into two groups of 60 each. Group I - patients with UCLPA and Group II - patients with CP. For comparison, all the four quadrants were defined, Q1-right upper quadrant, Q2-left upper quadrant, Q3-left lower quadrant and Q4-right lower quadrant, in both groups and the following parameters were recorded: Plaque Index (PI, Silness and Loe, Sulcus Bleeding Index (SBI, Muhlemann and Son, Probing Pocket Depth (PPD, Clinical Attachment Level (CAL, Mobility Index (Miller and Radiographic Amount of Bone Loss. Results: The periodontal destruction was seen to be higher in UCLPA patients compared with CP patients. The poor oral hygiene status, as indicated by higher values of PI, and the periodontal status, evaluated by SBI, PPD, CAL, mobility and Radiographic Amount of Bone Loss, were higher in patients with UCLPA than in patients with CP. Conclusion: In this study, patients with cleft lip, palate and alveolus had poor oral hygiene and periodontal status compared with patients with cleft palate.

  19. Risk of Breast Cancer in Families with Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Dietz, Alexander; Pedersen, Dorthe Almind; Jacobsen, Rune;

    2012-01-01

    PURPOSE: To test whether female subjects in families with cleft lip and/or palate (CL/P) have an increased risk of breast cancer. METHODS: By using the Danish Facial Cleft Registry, we identified female subjects with CL/P, mothers of children with CL/P, and sisters to CL/P cases for the Danish...

  20. Verbal Competence in Narrative Retelling in 5-Year-Olds with Unilateral Cleft Lip and Palate

    Science.gov (United States)

    Klintö, Kristina; Salameh, Eva-Kristina; Lohmander, Anette

    2015-01-01

    Background: Research regarding expressive language performance in children born with cleft palate is sparse. The relationship between articulation/phonology and expressive language skills also needs to be further explored. Aims: To investigate verbal competence in narrative retelling in 5-year-old children born with unilateral cleft lip and palate…

  1. Dental maturity in children with a complete bilateral cleft lip and palate.

    NARCIS (Netherlands)

    Heidbüchel, K.L.W.M.; Kuijpers-Jagtman, A.M.; Ophof, R.; Hooft, R.J. van

    2002-01-01

    OBJECTIVE: Dental age in children with a bilateral cleft lip and palate (BCLP) was assessed and compared with children without cleft. DESIGN: Dental age was estimated for 74 children with a complete BCLP (54 boys and 20 girls) from 364 orthopantomograms. Nonlinear regression curves were made between

  2. Basal sphenoethmoidal encephalocele in association with midline cleft lip and palate: case report

    Energy Technology Data Exchange (ETDEWEB)

    Holanda, Maurus Marques de Almeida; Rocha, Artur Bastos; Santos, Rayan Haquim Pinheiro [Universidade Federal da Paraiba (UFPB), Joao Pessoa, PB (Brazil); Furtado, Paulo Germano Cavalcanti [Universidade Federal da Paraiba (UFPB), Joao Pessoa, PB (Brazil). Dept. de Pediatria e Genetica

    2011-11-15

    Association of basal sphenoethmoidal encephalocele with midline cleft lip and palate is extremely rare. The authors report the case of a nine-year-old girl presenting a midline facial cleft with meningocele that was noticeable through the palatine defect as a medial intranasal pulsatile mass. An analysis of clinical and radiological findings of the present case of cranial dysraphism is carried out. (author)

  3. Cleft lip and cleft palate relationship with familial marriage: a study in 136 cases

    Directory of Open Access Journals (Sweden)

    Azimi C

    2010-02-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Clefts of the lip and palate are one of the most common congenital birth anomalies. Genetic factors play a great role in the etiology of them and the high percentage of the consanguineous marriage of the parents of the affected persons is one of the reasons. These defects not only make abnormal changes on appearance of the neonate, but also make a lot of stress and psychological problems for the patients and their families. Study on the prevalence of clefts, their risk factors and also genetic counseling for affected persons and their families can be a guideline for general population and probably reduce these anomalies over the generations."n"nMethods: Patients referred to the Department of Genetics, Imam Khomeini Hospital, Tehran, Iran were studied. A total of 7374 pedigrees of all the patients admitted to the Department, were studied during 2002-2005 and 99 pedigrees with the patients with cleft lip± palate or isolated cleft palate were separated. The total number of cases among these 99 pedigrees was 136. The effects of consanguineous marriage, positive family history and sex were investigated among cases."n"nResults: 70.8% of patients with syndromic clefts and 58.7% of patients with nonsyndromic CL

  4. 腭裂不同程度与腭裂语音关系的临床研究%The clinical study of cleft palate speech with different cleft palate

    Institute of Scientific and Technical Information of China (English)

    杨静; 李永生; 冯雁; 王瑜; 邹弘驹; 曹阳

    2013-01-01

    Objective: To investigate the influence of speech for different cleft palate. Methods: 45 cases include 15 cases of soft cleft palate and 15 cases of uncompleted cleft palate and 15 cases of complete cleft palate had been studied with speech evaluate. Results: The speech unclearness appeared positive relation with severe degree of cleft palate. The fact is speech of soft palate cleft is most mild than that of other two groups, the speech of two groups of uncompleted and completed cleft were most severe , and there is no obviously difference between both of them. Conclusion: The pronunciation of patients with every kind of cleft palate were not clear, cleft palate must be accepted palate plastic operation.%目的:探讨不同程度的腭裂对患者语音的影响。方法选取45例腭裂患者,包括软腭裂、不完全性腭裂及完全性腭裂患者各15例,行语音评估。结果腭裂程度越重,患者腭裂语音越明显。软腭裂患者腭裂语音较轻,不全腭裂和完全腭裂组最重。结论不同程度的腭裂均会影响患者发音,腭裂均应行手术修复。

  5. Neonatal Mandibular Distraction Osteogenesis Reduces Cleft Palate Width and Lengthens Soft Palate, Influencing Palatoplasty in Patients With Pierre Robin Sequence.

    Science.gov (United States)

    Collares, Marcus V M; Duarte, Daniele W; Sobral, Davi S; Portinho, Ciro P; Faller, Gustavo J; Fraga, Mariana M

    2016-07-01

    The aim of this study was to evaluate the influence of neonatal mandibular distraction osteogenesis (MDO) on cleft dimensions and on early palatoplasty outcomes in patients with Pierre Robin Sequence (PRS). In a prospective cohort study that enrolled 24 nonsyndromic patients with PRS, 12 submitted to the MDO group and 12 patients not treated (non-MDO group), the authors compared patients for cleft palate dimensions through 7 morphometric measurements at the moment of palatoplasty and for early palatoplasty outcomes. At palatoplasty, the MDO group presented a significant shorter distance between the posterior nasal spines (PNS-PNS, P < 0.001) and between uvular bases (UB-UB, P < 0.001), representing a reduction in cleft palate width. They also had significant soft palate lengthening represented by a larger distance between UB and retromolar space (UB-RM, P < 0.001) and UB and PNS (UB-PNS, P = 0.014). Their UB moved away from the posterior wall of the nasopharynx (UB-NPH, P < 0.001). The MDO group had a length of operative time significantly shorter (P < 0.001) and no early palatoplasty complications compared with the non-MDO group. In conclusion, MDO acted as an orthopedic procedure that reduced cleft palate width and elongated the soft palate in patients with PRS. These modifications enabled a reduction of around 11% in the length of operative time of palatoplasty (P < 0.001).

  6. Value of acoustic perceptual method for analysis of compensatory articulation errors in postoperative patients with cleft palate

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Objective To establish an acoustic perceptual method analyzing the compensatory articulation errors in children with operated cleft palate via the formants of Chinese pure vowels. Methods The first three formants which represent vocal transmission character in Chinese pure vowels of 84 subjects with operated cleft palate, were measured by Computerized Speech Signal Processing System (CSSPS). The Chinese vowel graph of postoperative patients with cleft palate was stated by the first formant frequencies (F1) ...

  7. MAXILLARY GROWTH PATTERNS IN ROMANIAN CHILDREN WITH CLEFT PALATE AGED BETWEEN 0-6 YEARS

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    Liliana-Gabriela Halitchi

    2011-12-01

    Full Text Available A study documenting spontaneous and coordinated growth changes in young Romanian children with cleft palate is developed, for identifying the functional adaptations of oral cavity to the disrupted architecture of palate in children with cleft palate, the 3D analysis of maxillary casts being applied to visualize, evaluate and measure maxillary growth in patients with cleft palate, as well as to identify the reactive morphological pattern that could be imagined from the dimensional changes produced in the first 6 years of life. Two experimental groups were involved in the study, a former one, including 44 patients with cleft palate (16 boys and 28 girls, aged between 2 months and 6 years, operated by the same surgical team in the St.Mary University Children Hospital from Ia[i. The resulting maxillary casts were 3D scanned at Multinr company, in Sf. Gheorghe. The maxillary alveolar arch lines, the 4 Stilmann points (TD, TS, CD, CS and the maxillary interincisive point were identified and marked by the orthodontist, being reproduced with 6 degrees of tridimensional freedom. The coordinates of this point were transferred to the CAD system, to graphically recreate the computerized three-dimensional alveolar arch. 4 direct measurements have been made, namely: anterior and posterior diameter of the alveolar maxillary arch, length of the alveolar arch and depth of the palate. Student’s t test, both simple and bivariate, performed with SPSS 13.0 soft, showed statistic significance for the dimensional differences of the alveolar maxillary arch in children with cleft palate, comparatively with the healthy control group. Conclusion: Cleft palate patients have narrower and shorter maxillary alveolar arch and a flattened palate.

  8. Cleft lip and palate genetics and application in early embryological development

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    Yu Wenli

    2009-10-01

    Full Text Available The development of the head involves the interaction of several cell populations and coordination of cell signalling pathways, which when disrupted can cause defects such as facial clefts. This review concentrates on genetic contributions to facial clefts with and without cleft palate (CP. An overview of early palatal development with emphasis on muscle and bone development is blended with the effects of environmental insults and known genetic mutations that impact human palatal development. An extensive table of known genes in syndromic and non-syndromic CP, with or without cleft lip (CL, is provided. We have also included some genes that have been identified in environmental risk factors for CP/L. We include primary and review references on this topic.

  9. Cleft lip and palate genetics and application in early embryological development.

    Science.gov (United States)

    Yu, Wenli; Serrano, Maria; Miguel, Symone San; Ruest, L Bruno; Svoboda, Kathy K H

    2009-10-01

    The development of the head involves the interaction of several cell populations and coordination of cell signalling pathways, which when disrupted can cause defects such as facial clefts. This review concentrates on genetic contributions to facial clefts with and without cleft palate (CP). An overview of early palatal development with emphasis on muscle and bone development is blended with the effects of environmental insults and known genetic mutations that impact human palatal development. An extensive table of known genes in syndromic and non-syndromic CP, with or without cleft lip (CL), is provided. We have also included some genes that have been identified in environmental risk factors for CP/L. We include primary and review references on this topic.

  10. Evolution of my philosophy in the treatment of unilateral cleft lip and palate.

    Science.gov (United States)

    Brusati, Roberto

    2016-08-01

    At the end of 50-year-long clinical activity, the evolution of my approach to the treatment of unilateral cleft of the lip and palate is discussed. I had several teachers in this field (Rusconi, Reherman, Perko, Delaire, Talmant, Sommerlad and others) and I introduced in my approach what I considered to be improvements from all of them. My current protocol is related to the anatomy of the cleft: for wide clefts a two-stage protocol is applied (1° step: soft palate and lip and nose repair; 2° step: hard palate repair with gingivoalveoloplasty); for narrow cleft (less than 1 cm at the posterior border of hard palate) an "all in one" protocol is performed with or without gingivoalveoloplasty (in accordance to the presence or absence of contact between the stumps at alveolar level). The most important details regarding surgery of the lip and palate are discussed. Robust data collection on speech and skeletal growth is still needed to determine whether the "all in one" approach can be validated as the treatment of choice for unilateral complete lip and palate cleft in selected cases. PMID:27318751

  11. Evolution of my philosophy in the treatment of unilateral cleft lip and palate.

    Science.gov (United States)

    Brusati, Roberto

    2016-08-01

    At the end of 50-year-long clinical activity, the evolution of my approach to the treatment of unilateral cleft of the lip and palate is discussed. I had several teachers in this field (Rusconi, Reherman, Perko, Delaire, Talmant, Sommerlad and others) and I introduced in my approach what I considered to be improvements from all of them. My current protocol is related to the anatomy of the cleft: for wide clefts a two-stage protocol is applied (1° step: soft palate and lip and nose repair; 2° step: hard palate repair with gingivoalveoloplasty); for narrow cleft (less than 1 cm at the posterior border of hard palate) an "all in one" protocol is performed with or without gingivoalveoloplasty (in accordance to the presence or absence of contact between the stumps at alveolar level). The most important details regarding surgery of the lip and palate are discussed. Robust data collection on speech and skeletal growth is still needed to determine whether the "all in one" approach can be validated as the treatment of choice for unilateral complete lip and palate cleft in selected cases.

  12. Prevalence of Oral Habits in Children with Cleft Lip and Palate

    Directory of Open Access Journals (Sweden)

    Paula Caroline Barsi

    2013-01-01

    Full Text Available This study investigated the prevalence of oral habits in children with clefts aged three to six years, compared to a control group of children without clefts in the same age range, and compared the oral habits between children with clefts with and without palatal fistulae. The sample was composed of 110 children aged 3 to 6 years with complete unilateral cleft lip and palate and 110 children without alterations. The prevalence of oral habits and the correlation between habits and presence of fistulae (for children with clefts were analyzed by questionnaires applied to the children caretakers. The cleft influenced the prevalence of oral habits, with lower prevalence of pacifier sucking for children with cleft lip and palate and higher prevalence for all other habits, with significant association (. There was no significant association between oral habits and presence of fistulae (. The lower prevalence of pacifier sucking and higher prevalence of other oral habits agreed with the postoperative counseling to remove the pacifier sucking habit when the child is submitted to palatoplasty, possibly representing a substitution of habits. There was no causal relationship between habits and presence of palatal fistulae.

  13. Prevalence of oral habits in children with cleft lip and palate.

    Science.gov (United States)

    Barsi, Paula Caroline; Ribeiro da Silva, Thaieny; Costa, Beatriz; da Silva Dalben, Gisele

    2013-01-01

    This study investigated the prevalence of oral habits in children with clefts aged three to six years, compared to a control group of children without clefts in the same age range, and compared the oral habits between children with clefts with and without palatal fistulae. The sample was composed of 110 children aged 3 to 6 years with complete unilateral cleft lip and palate and 110 children without alterations. The prevalence of oral habits and the correlation between habits and presence of fistulae (for children with clefts) were analyzed by questionnaires applied to the children caretakers. The cleft influenced the prevalence of oral habits, with lower prevalence of pacifier sucking for children with cleft lip and palate and higher prevalence for all other habits, with significant association (P oral habits and presence of fistulae (P > 0.05). The lower prevalence of pacifier sucking and higher prevalence of other oral habits agreed with the postoperative counseling to remove the pacifier sucking habit when the child is submitted to palatoplasty, possibly representing a substitution of habits. There was no causal relationship between habits and presence of palatal fistulae.

  14. Consequences of phonological ability for intelligibility of speech in youngsters with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Poulsen, Mads

    in the hard palate performed significantly worse at 3 years of age (Willadsen, in press). To investigate the influence of phonological ability on intelligibility of speech in 14 children from each of the 3 groups, an investigation including 84 lay listeners was conducted. The lay listeners were presented......  In a previous Randomized Clinical Trial (RCT) including children with unilateral cleft lip and palate, it was found that children who had the entire palate closed by 12 months of age had almost as good phonological abilities as a control group, whereas a group of children with a residual cleft...... groups. Based on a pilot study a difference between the groups was observed, suggesting that control children were most easily understood, followed by children with closed palates who were more easily understood than children with a residual cleft....

  15. Effect of cleft palate repair on the susceptibility to contraction-induced injury of single permeabilized muscle fibers from congenitally-clefted goat palates.

    Science.gov (United States)

    Despite cleft palate repair, velopharyngeal competence is not achieved in ~ 15% of patients, often necessitating secondary surgical correction. Velopharyngeal competence postrepair may require the conversion of levator veli palatini muscle fibers from injury-susceptible type 2 fibers to injury-resi...

  16. Postoperative analgesia for cleft lip and palate repair in children

    Science.gov (United States)

    Reena; Bandyopadhyay, Kasturi Hussain; Paul, Abhijit

    2016-01-01

    Acute pain such as postoperative pain during infancy was ignored approximately three decades ago due to biases and misconceptions regarding the maturity of the infant's developing nervous system, their inability to verbally report pain, and their perceived inability to remember pain. More recently, these misconceptions are rarely acknowledged due to enhanced understanding of the developmental neurobiology of infant pain pathways and supraspinal processing. Cleft lip and palate is one of the most common congenital abnormalities requiring surgical treatment in children and is associated with intense postoperative pain. The pain management gets further complicated due to association with postsurgical difficult airway and other congenital anomalies. Orofacial blocks like infraorbital, external nasal, greater/lesser palatine, and nasopalatine nerve blocks have been successively used either alone or in combinations to reduce the postoperative pain. Since in pediatric population, regional anesthesia is essentially performed under general anesthesia, association of these two techniques has dramatically cut down the risks of both procedures particularly those associated with the use of opioids and nonsteroidal anti-inflammatory drugs. Definitive guidelines for postoperative pain management in these patients have not yet been developed. Incorporation of multimodal approach as an institutional protocol can help minimize the confusion around this topic. PMID:27006533

  17. Strategies for treating compensatory articulation in patients with cleft palate.

    Science.gov (United States)

    Del Carmen Pamplona, Maria; Ysunza, Antonio; Morales, Santiago

    2014-03-01

    Patients with cleft palate frequently show compensatory articulation (CA). CA requires a prolonged period of speech intervention. Some scaffolding strategies can be useful for correcting placement and manner of articulation in these cases. The purpose of this paper was to study whether the use of specific strategies of speech pathology can be more effective if applied according to the level of severity of CA. Ninety patients with CA were studied in two groups. One group was treated using strategies specific for their level of severity of articulation, whereas in the other group all strategies were used indistinctively. The degree of severity of CA was compared at the end of the speech intervention. After the speech therapy intervention, the group of patients in which the strategies were used selectively, showed a significantly greater decrease in the severity of CA, as compared with the patients in whom all the strategies were used indistinctively. An assessment of the severity of CA can be useful for selecting the strategies, which can be more effective for correcting the compensatory errors. PMID:24711749

  18. A review of cleft lip and palate management: Experience of a Nigerian Teaching Hospital

    Science.gov (United States)

    Efunkoya, Akinwale Adeyemi; Omeje, Kelvin Uchenna; Amole, Ibiyinka Olushola; Osunde, Otasowie Daniel; Akpasa, Izegboya Olohitae

    2015-01-01

    Background: Cleft lip (CL) and palate (CLP) management is multidisciplinary. A cleft team was formed in a Nigerian Tertiary Hospital to address the health needs of cleft patients in the centre. Aim: This paper aims at documenting the Aminu Kano Teaching Hospital (AKTH) management protocol for orofacial clefts and also to review our experience with CLP surgeries performed at AKTH since our partnering with Smile Train. Materials and Methods: A retrospective review of all the cleft patients surgically treated from January 2006 to December 2014 under Smile Train sponsorship was undertaken. A descriptive narrative of the cleft team protocol was also given. Results: One hundred and fifty-five patients (80 males, 75 females) had surgical repairs of either the lip or palate. CL patients were 83 (53.55%), while CLP patients were 45 (29.03%) and isolated cleft palate patients were 27 (17.42%). Conclusion: The inclusion of various specialities in the cleft team is highly desirable. Poverty level amongst our patients frequently limits our management to surgical treatment sponsored by the Smile Train, despite the presence of other residual problems. PMID:26712291

  19. Presurgical orthodontic treatment of patients with complete bilateral cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Radojičić Julija

    2014-01-01

    Full Text Available Introduction. Cleft lips and palates are the most common congenital orofacial anomaly. This type of clefts is the most severe from the orthodontic-surgical therapy aspect. Case report. A female newborn with a complete cleft of the primary and the secondary palate was admitted to the clinic, where a multiple-role orthodontic device was specially designed and applied to primarily manage the closure of the existing cleft and help to improve the suckling ability of the baby. Besides the fact that it allows breastfeeding, it has a significant orthodontic effect, too. Conclusion. Specificity of this device is the lack of extraoral fixation. What can easily be observed is a progressive reduction of the cleft between the separated segments and the premaxilla retrusion. It, thus, allows the creation of much better conditions for further surgical management of the said defect.

  20. Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development

    DEFF Research Database (Denmark)

    Jakobsen, Linda P; Borup, Rehannah; Vestergaard, Janni;

    2009-01-01

    . Moreover, selected differentially expressed genes were analyzed by quantitative RT-PCR, and by immunohistochemical staining of craniofacial tissue from human embryos. Osteopontin (SPP1) and other immune related genes were significantly higher expressed in palate tissue from patients with CLP compared to CP...... and immunostaining in palatal shelves against SPP1, chemokine receptor 4 (CXCR4) and serglycin (PRG1) in human embryonic craniofacial tissue were positive, supporting a role for these genes in palatal development. However, gene expression profiles are subject to variations during growth and therefore...... palate (CLP). In order to understand the biological basis in these cleft lip and palate subgroups better we studied the expression profiles in human tissue from patients with CL/P. In each of the CL/P subgroups, samples were obtained from three patients and gene expression analysis was performed...

  1. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

    Directory of Open Access Journals (Sweden)

    Alexandre R Vieira

    2005-12-01

    Full Text Available Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 family triads (affected child/mother/father. The recently reported MSX1 P147Q mutation was also studied in an additional 1,098 cleft cases. Selected missense mutations were screened in 1,064 controls from unrelated individuals on the Centre d'Etude du Polymorphisme Humain (CEPH diversity cell line panel. Our aggregate data suggest that point mutations in these candidate genes are likely to contribute to 6% of isolated clefts, particularly those with more severe phenotypes (bilateral cleft of the lip with cleft palate. Additional cases, possibly due to microdeletions or isodisomy, were also detected and may contribute to clefts as well. Sequence analysis alone suggests that point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated cleft lip with or without cleft palate, and the linkage disequilibrium data support a larger, as yet unspecified, role for variants in or near MSX2, JAG2, and SKI. This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations.

  2. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate.

    Directory of Open Access Journals (Sweden)

    2005-12-01

    Full Text Available Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 family triads (affected child/mother/father. The recently reported MSX1 P147Q mutation was also studied in an additional 1,098 cleft cases. Selected missense mutations were screened in 1,064 controls from unrelated individuals on the Centre d'Etude du Polymorphisme Humain (CEPH diversity cell line panel. Our aggregate data suggest that point mutations in these candidate genes are likely to contribute to 6% of isolated clefts, particularly those with more severe phenotypes (bilateral cleft of the lip with cleft palate. Additional cases, possibly due to microdeletions or isodisomy, were also detected and may contribute to clefts as well. Sequence analysis alone suggests that point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated cleft lip with or without cleft palate, and the linkage disequilibrium data support a larger, as yet unspecified, role for variants in or near MSX2, JAG2, and SKI. This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations.

  3. A comprehensive review of the genetic basis of cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Sarvraj Singh Kohli

    2012-01-01

    Full Text Available Cleft lip and palate (CLP are birth defects that affect the upper lip and the roof of the mouth. CLP has a multifactorial etiology, comprising both genetic and environmental factors. In this review we discuss the recent data on the etiology of cleft lip and palate. We conducted a search of the MEDLINE database (Entrez PubMed from January 1986 to December 2010 using the key words: ′cleft lip,′ ′cleft palate,′ ′etiology,′ and ′genetics.′ The etiology of CLP seems complex, with genetics playing a major role. Several genes causing syndromic CLP have been discovered. Three of them-T-box transcription factor-22 (TBX22, poliovirus receptor-like-1 (PVRL1, and interferon regulatory factor-6 (IRF6-are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively; they are also implicated in nonsyndromic CLP. The nature and functions of these genes vary widely, illustrating the high vulnerability within the craniofacial developmental pathways. The etiological complexity of nonsyndromic cleft lip and palate is also exemplified by the large number of candidate genes and loci. To conclude, although the etiology of nonsyndromic CLP is still largely unknown, mutations in candidate genes have been identified in a small proportion of cases. Determining the relative risk of CLP on the basis of genetic background and environmental influence (including smoking, alcohol use, and dietary factors will be useful for genetic counseling and the development of future preventive measures.

  4. 腭裂、唇裂及腭裂伴有唇裂疾病及手术编码的探讨%Discussion on the Disease and Surgery Coding of Cleft palate, Cleft Lip and Cleft Palate

    Institute of Scientific and Technical Information of China (English)

    郑金龙

    2015-01-01

    唇裂和腭裂是最常见的先天性畸形之一。依据疾病和有关健康问题的国际统计分类第十次修订本(ICD-10)第二版,针对不同临床分型,对唇裂、腭裂、腭裂伴唇裂相关情况疾病给出正确编码,同时对唇裂、腭裂、腭裂伴唇裂常见手术给出正确编码。编码员编码时要认真阅读病案及与临床医师沟通,根据ICD-10分类轴心,将唇裂、腭裂、腭裂伴有唇裂的临床分类与ICD-10分类进行对应,按照编码规则进行准确编码。%Cleft lip and palate is one of the most common congenital malformations. In this paper, based on the International statistical classification of diseases and related health problems(ICD-10), for different clinical types of cleft lip, cleft palate, cleft lip and cleft palate with secondary deformity of disease and give the correct surgery coding. When coders coding they should carefully read the medical records and communicate with clinicians to determine the cleft lip, cleft palate, cleft lip with a specific type of cleft palate and related specific surgical repair, make accurate coding according to the encoding rules.

  5. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Wyszynski, D.F. [Johns Hopkins Univ., Baltimore, MD (United States)]|[National Center for Human Genome Research, Bethesda, MD (United States); Lewanda, A.F. [Johnson Hopkins Hospital, Baltimore, MD (United States)]|[Children`s National Medical Center, Washington, DC (United States); Beaty, T.H. [Johns Hopkins Univ., Balitomre, MD (United States)

    1996-12-30

    Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

  6. Unusual foreign body in the nasal cavity of an adult with repaired cleft lip and palate.

    Science.gov (United States)

    Ravikumar, Nagabhairava; GunaShekhar, M; Prasad, S Raghavendra; Lalitha, N; Raju, P Ramanjaneya; Natesh, Y A

    2015-03-01

    Intranasal foreign bodies arising from dental clinical practice, especially in patients with cleft lip and palate (CLP) occur rarely and are very scarce in the literature. This article reports an unusual case of a dental impression material presenting as a foreign body in the nasal cavity of an adult with repaired CLP who presented for dental prosthetic rehabilitation. To our knowledge, this is only the second report presenting nasal foreign body in a cleft patient arising due to a dental impression procedure.

  7. Evaluation of fecal microorganisms of children with cleft palate before and after palatoplasty

    Directory of Open Access Journals (Sweden)

    Narciso Almeida Vieira

    2013-09-01

    Full Text Available This study isolated and quantified intestinal bacteria of children with cleft palate before and after palatoplasty. A prospective study was conducted from May 2007 to September 2008 on 18 children with cleft palate, aged one to four years, of both genders, attending a tertiary cleft center in Brazil for palatoplasty, to analyze the effect of surgical palate repair on the concentration of anaerobes Bacteroides sp, Bifidobacterium sp and microaerophiles Lactobacillus sp in feces of infants with cleft palate before and 24 hours after treatment with cefazolin for palatoplasty. There was significant reduction of Lactobacillus sp (p < 0.002, Bacteroides sp (p < 0.001 and Bifidobacterium sp (p = 0.021 after palatoplasty, revealing that surgery and utilization of cefazolin significantly influenced the fecal microbiota comparing collections before and after surgery. However, due to study limitations, it was not possible to conclude that other isolated factors, such as surgical stress, anesthetics and other medications used in palatoplasty might have a significant influence on the microbiota. Considering the important participation of the intestinal microbiota on both local and systemic metabolic and immunological activities of the host, professionals should be attentive to the possible influence of these changes in patients submitted to cleft repair.

  8. Search for Genomic Alterations in Monozygotic Twins Discordant for Cleft Lip and/or Palate

    DEFF Research Database (Denmark)

    Kimani, Jane W; Yoshiura, Koh-Ichiro; Shi, Min;

    2009-01-01

    consisting of 1,536 SNPs, to scan for genomic alterations in a sample of monozygotic twin pairs with discordant cleft lip and/or palate phenotypes. Paired analysis for deletions, amplifications and loss of heterozygosity, along with sequence verification of SNPs with discordant genotype calls did not reveal...... any genomic discordance between twin pairs in lymphocyte DNA samples. Our results demonstrate that postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate. However, rare or balanced genomic alterations, tissue-specific events...

  9. Pre: Surgical orthopedic pre-maxillary alignment in bilateral cleft lip and palate patient

    Directory of Open Access Journals (Sweden)

    Vijaya Prasad Kamavaram Ellore

    2012-01-01

    Full Text Available Pre-surgical orthopedic appliances are mainly used to retract and align the protruded and deviated pre-maxilla and to facilitate initial lip repair. This article presents a case report of a five year old male child patient with bilateral cleft lip and palate in whom a special custom made pre-surgical orthopedic appliance was delivered. Use of a special custom made presurgical orthopedic appliance for repositioning pre-maxilla in bilateral cleft lip and palate patient is discussed in this article.

  10. Early postnatal development of the mandibular permanent first molar in infants with isolated cleft palate

    DEFF Research Database (Denmark)

    Hermann, Nuno V.; Zargham, Mostafa; Darvann, Tron Andre;

    2012-01-01

    International Journal of Paediatric Dentistry 2012; 22: 280–285 Background. Based on measurements on dental casts, smaller permanent teeth in children with cleft palate have previously been reported in the literature; however, the early maturation of teeth and the size of the follicles and crowns...... have not been investigated. Hypothesis. The maturation of the mandibular permanent first molar (M1inf) is delayed, and the mesiodistal diameters of the follicle and crown of M1inf, respectively, are reduced in children with isolated cleft palate (ICP). Design. Retrospective, longitudinal. Cephalometric...

  11. The nance obturator, a new fixed obturator for patients with cleft palate and fistula.

    Science.gov (United States)

    Borzabadi-Farahani, Ali; Groper, John N; Tanner, Aaron M; Urata, Mark M; Panossian, Andre; Yen, Stephen L-K

    2012-07-01

    In patients with fistulas that impair function (e.g., feeding, resonance, intelligibility), obturators are used to improve feeding and reduce nasal air emission by occluding the abnormal opening between the oral and nasal cavities. This report describes a novel method for occluding an anterior palatal fistula in patients with cleft palates. The new design for a fixed obturator is based on the Nance appliance, which was originally used as a space maintainer, but has been redesigned for closing an anterior palatal fistula in a patient with cleft lip and palate. The Nance obturator may be used when the surgical closure of the fistula is not feasible and a removable device is not successful. As it is a fixed device, it does not require remaking with maxillary growth. The new design may also function as a fixed space maintainer to preserve molar anchorage and maxillary transverse width.

  12. Dental anomalies in children with cleft lip and palate in Western Australia

    Science.gov (United States)

    Nicholls, Wendy

    2016-01-01

    Objective: The purpose of this paper was to describe the prevalence and type of dental anomalies in the primary and permanent dentition in children with a cleft condition at Princess Margaret Hospital in Perth, Western Australia. Materials and Methods: The details of 162 current dental patients extracted from the main dental database through their year of birth for the period 1998–2001 were selected consecutively. Dental records and X-rays were examined by one examiner (WN) and verified by a second examiner (RB) to determine dental development. The mean age of the subjects was 10.8 years with equal numbers of males and females. Subjects were further divided into cleft type; unilateral cleft lip (UCL) and palate, bilateral cleft lip (BCL) and palate, UCL, BCL, and cleft palate. Results: One hundred sixty-two subjects were grouped into 21 categories of anomaly or abnormality. Prevalence rates for the categories were calculated for the overall group and for gender and cleft type. Conclusion: Overall, 94% of patients were found to have at least one dental anomaly, with fifty-six (34%) patients having more than one anomaly or abnormality. PMID:27095907

  13. Inferior Turbinate Flap for Nasal-side Closure of Palatal Fistula in Cleft Patients: Technical Note

    OpenAIRE

    Amin Rahpeyma; Saeedeh Khajehahmadi

    2015-01-01

    Summary: Residual palatal fistula after repair of palatal cleft is common. Repair of residual oronasal fistula is not always successful. Two-layer closure techniques that close these fistulas with soft tissue are a common practice. Turnover flaps are the most used flaps and often the sole method for nasal-side closure of fistula. Anteriorly based inferior turbinate flap can be used to provide soft tissue for nasal-side closure when turnover flaps will not provide sufficient tissue for this pu...

  14. Morphology of bone defects in patient with unilateral cleft lip and palate. Cone beam x-ray CT evaluation

    International Nuclear Information System (INIS)

    Orthodontic treatment planning of the cleft lip and palate vary according to the morphology of the alveolar bone and palatal bone. The purpose of this study is to evaluate the three-dimensional anatomy of the alveolar and palatal bone in children with complete unilateral cleft lip and palate. Thirty-three nonsyndromic consecutive patients with complete unilateral cleft lip and palate were treated by the cleft palate team at Showa University. Each patient had lip and palate surgeries at Showa University. Cone beam CT radiographs (CB MercuRay, Hitachi) were taken prior to secondary bone grafting, and were classified according to the method of Kita et al. 1997. Cone beam CT radiographs showed multiple types of alveolar and palatal bone morphology, and focused on special types described in the method of Kita et al. It was most frequently found that bone defects in the alveolar crest showed similar patterns in both buccal and palatal aspect, and the buccal bone defect in the nasal floor was larger than the palatal bone defect in the nasal floor. In 80% of the patients, the palatal bone defect showed similar patterns in both anterior and posterior aspects, and the anterior palatal bone defect was smaller than the posterior palatal bone defect. In addition, inadequate bone bridges were frequently found at the cleft site. It is suggested that patients with unilateral cleft lip and palate have various types of alveolar and palatal bone morphology, and are required to take three-dimensional radiographic X-rays prior to any orthodontic treatment. (author)

  15. Inferior Turbinate Flap for Nasal-side Closure of Palatal Fistula in Cleft Patients: Technical Note

    Directory of Open Access Journals (Sweden)

    Amin Rahpeyma

    2014-12-01

    Full Text Available Summary: Residual palatal fistula after repair of palatal cleft is common. Repair of residual oronasal fistula is not always successful. Two-layer closure techniques that close these fistulas with soft tissue are a common practice. Turnover flaps are the most used flaps and often the sole method for nasal-side closure of fistula. Anteriorly based inferior turbinate flap can be used to provide soft tissue for nasal-side closure when turnover flaps will not provide sufficient tissue for this purpose. Under general anesthesia with nasotracheal intubation, inferior turbinate was released from posterior attachment. After removing the inferior conchal bone, mucoperiosteal flap was used for nasal-side closure of anterior palatal fistula in patients with cleft. Anteriorly based inferior turbinate flap was used for nasal-side closure of residual palatal fistula in 3 patients with cleft. Age of the patients was 14, 16, and 18, and recurrence of palatal fistula has not occurred. Anteriorly based inferior turbinate flap is an axial pattern flap with appropriate surface of the paddle and vicinity to the oral cavity roof. It can be used in large anterior, palatal fistula for reconstruction of nasal floor. Considering appropriate another flap for oral side coverage of such fistula is mandatory.

  16. Presurgical nasoalveolar molding therapy in cleft lip and palate individuals: Case series and review

    Directory of Open Access Journals (Sweden)

    Narayan H Gandedkar

    2015-01-01

    Full Text Available The nasoalveolar molding (NAM therapy is advocated to reduce the severity of alveolar cleft and nasal deformity. NAM therapy has demonstrated to be an effective method for reducing cleft and improve nose anatomy. This paper presents a case report of three cleft lip and palate individuals treated with NAM therapy. Furthermore, the paper highlights the advantages of NAM therapy along with an enumeration of literature suggesting in favor of NAM therapy and otherwise. Regardless of controversies and divergent views involved with NAM therapy, the immediate success of NAM therapy facilitating primary lip repair surgery cannot be under-emphasized.

  17. Dual embryonic origin of maxillary lateral incisors: clinical implications in patients with cleft lip and palate

    Science.gov (United States)

    Garib, Daniela Gamba; Rosar, Julia Petruccelli; Sathler, Renata; Ozawa, Terumi Okada

    2015-01-01

    Introduction: Cleft lip and palate are craniofacial anomalies highly prevalent in the overall population. In oral clefts involving the alveolar ridge, variations of number, shape, size and position are observed in maxillary lateral incisors. The objective of this manuscript is to elucidate the embryonic origin of maxillary lateral incisors in order to understand the etiology of these variations. Contextualization: The hypothesis that orofacial clefts would split maxillary lateral incisor buds has been previously reported. However, recent studies showed that maxillary lateral incisors have dual embryonic origin, being partially formed by both the medial nasal process and the maxillary process. In other words, the mesial half of the lateral incisor seems to come from the medial nasal process while the distal half of the lateral incisor originates from the maxillary process. In cleft patients, these processes do not fuse, which results in different numerical and positional patterns for lateral incisors relating to the alveolar cleft. In addition to these considerations, this study proposes a nomenclature for maxillary lateral incisors in patients with cleft lip and palate, based on embryology and lateral incisors position in relation to the alveolar cleft. Conclusion: Embryological knowledge on the dual origin of maxillary lateral incisors and the use of a proper nomenclature for their numerical and positional variations renders appropriate communication among professionals and treatment planning easier, in addition to standardizing research analysis. PMID:26560830

  18. Dual embryonic origin of maxillary lateral incisors: clinical implications in patients with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Daniela Gamba Garib

    2015-10-01

    Full Text Available Introduction:Cleft lip and palate are craniofacial anomalies highly prevalent in the overall population. In oral clefts involving the alveolar ridge, variations of number, shape, size and position are observed in maxillary lateral incisors. The objective of this manuscript is to elucidate the embryonic origin of maxillary lateral incisors in order to understand the etiology of these variations.Contextualization: The hypothesis that orofacial clefts would split maxillary lateral incisor buds has been previously reported. However, recent studies showed that maxillary lateral incisors have dual embryonic origin, being partially formed by both the medial nasal process and the maxillary process. In other words, the mesial half of the lateral incisor seems to come from the medial nasal process while the distal half of the lateral incisor originates from the maxillary process. In cleft patients, these processes do not fuse, which results in different numerical and positional patterns for lateral incisors relating to the alveolar cleft. In addition to these considerations, this study proposes a nomenclature for maxillary lateral incisors in patients with cleft lip and palate, based on embryology and lateral incisors position in relation to the alveolar cleft.Conclusion:Embryological knowledge on the dual origin of maxillary lateral incisors and the use of a proper nomenclature for their numerical and positional variations renders appropriate communication among professionals and treatment planning easier, in addition to standardizing research analysis.

  19. RETINOIC ACID DOWN-REGULATES BONE MORPHOGENETIC PROTEIN 7 EXPRESSION IN RAT WITH CLEFT PALATE

    Institute of Scientific and Technical Information of China (English)

    Lei Guo; Yu-yan Zhao; Shi-liang Zhang; Kui Liu; Xiao-yu Gao

    2008-01-01

    Objective To evaluate the effects of retinoic acid (RA) on expression of bone morphogenetic protein 7 (BMP-7)in rat fetus with cleft palate, and the effects of RA on proliferation and apoptosis of osteoblasts. Methods All-trans RA (ATRA) was used to induce congenital cleft palate in Wistar rat. BMP-7 mRNA expres-sion in maxillary bone tissue of fetal rats was measured by Northern blotting analysis. Flow cytometry and MTT assay were used to measure the apoptosis and proliferation of ATRA-treated MC-3T3-E1 cells. BMP-7 mRNA and protein ex-pressions in ATRA-treated MC-3T3-E1 cells were detected by RT-PCR and Western blotting analysis.Results ATRA could induce cleft palate of rat fetus. The incidence rate of cleft palate induced by 100 mg/kg AT-RA (45.5%) was significantly higher than 50 mg/kg ATRA (12.5%, P<0.05). BMP-7 mRNA expression de-creased in maxillary bone tissue of rat fetus with cleft palate. MC-3T3-E1 cells proliferation treated with 1 × 10-6 mol/L ATRA decreased by 60%, the cell apoptosis increased by 2 times. BMP-7 mR.NA and protein levels in MC-3T3-E1cells treated with 1 × 10-6 mol/L ATRA decreased by 60% and 80%, respectively, compared with ATRA-untreated ceils (P<0.05).Conclusions BMP-7 may play an important role in embryonic palate development RA may possess the ability to down-regulate cell proliferation through regulation of BMP-7 gene expression.

  20. Reliability of linear measurements on a virtual bilateral cleft lip and palate model

    NARCIS (Netherlands)

    Oosterkamp, B.C.M.; van der Meer, W.J.; Rutenfrans, M.; Dijkstra, P.U.

    2006-01-01

    Objective: To assess the reliability and validity of measurements performed on three-dimensional virtual models of neonatal bilateral cleft lip and palate patients, compared with measurements performed on plaster cast models. Materials and Methods: Ten high-quality plaster cast models of bilateral c

  1. ANATOMICAL VARIATIONS FINDINGS ON CONE BEAM-COMPUTED TOMOGRAPHY IN CLEFT LIP AND PALATE PATIENTS

    Directory of Open Access Journals (Sweden)

    Yllka DECOLLI

    2015-09-01

    Full Text Available Introduction: Cone beam computed tomography (CBCT is frequently used in surgery treatment planning in patients with cleft lip and palate (CLP. The aim of this study was to investigate the presence of different anatomical variations of patients with cleft lip and palate using CBCT images. Materials and method: CBCTs taken from consecutive patients (n =25; mean age 10.7±4 years, range 6.5–23 years with a non-syndromic cleft lip and palate (CLP, between June 2014-2015, were systematically evaluated. Sinuses, nasopharynx, oropharynx, hypopharynx, temporo-mandibular joint (TMJ, maxilla and mandible were checked for incidental findings. Results: On 90.1 % of the CBCTs, incidental findings were found. The most prevalent ones were airway/sinus findings (78.1%, followed by dental problems, e.g. missing teeth (54%, nasal septum deviation (93%, middle ear and mastoid opacification, suggestive for otitis media (8% and (chronic mastoiditis (7%, abnormal TMJ anatomy (4.3%. Conclusions: Incidental findings are common on CBCTs in cleft lip and palate patients. Compared with the literature, CLP patients have more dental, nasal and ear problems. The CBCT scan should be reviewed by all specialists in the CLP team, stress being laid on their specific background knowledge concerning symptoms and treatment of these patients.

  2. Bilingual Children with Nonsyndromic Cleft Lip and/or Palate: Language and Memory Skills

    Science.gov (United States)

    Young, Selena Ee-Li; Purcell, Alison Anne; Ballard, Kirrie Jane; Liow, Susan Jane Rickard; Ramos, Sara Da Silva; Heard, Robert

    2012-01-01

    Purpose: Research shows that monolingual children with cleft lip and/or palate (CLP) have a higher incidence of cognitive-linguistic deficits, but it is not clear whether bilingual preschool children with CLP are especially vulnerable because they need to acquire 2 languages. We tested the hypothesis that bilingual children with CLP score lower…

  3. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

    DEFF Research Database (Denmark)

    Beaty, Terri H; Ruczinski, Ingo; Murray, Jeffrey C;

    2011-01-01

    Nonsyndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome-wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international...

  4. Effect of Maxillary Osteotomy on Speech in Cleft Lip and Palate: Perceptual Outcomes of Velopharyngeal Function

    Science.gov (United States)

    Pereira, Valerie J.; Sell, Debbie; Tuomainen, Jyrki

    2013-01-01

    Background: Abnormal facial growth is a well-known sequelae of cleft lip and palate (CLP) resulting in maxillary retrusion and a class III malocclusion. In 10-50% of cases, surgical correction involving advancement of the maxilla typically by osteotomy methods is required and normally undertaken in adolescence when facial growth is complete.…

  5. Speech Analysis of Bengali Speaking Children with Repaired Cleft Lip & Palate

    Science.gov (United States)

    Chakrabarty, Madhushree; Kumar, Suman; Chatterjee, Indranil; Maheshwari, Neha

    2012-01-01

    The present study aims at analyzing speech samples of four Bengali speaking children with repaired cleft palates with a view to differentiate between the misarticulations arising out of a deficit in linguistic skills and structural or motoric limitations. Spontaneous speech samples were collected and subjected to a number of linguistic analyses…

  6. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

    Science.gov (United States)

    Giannotti, A; Digilio, M C; Mingarelli, R; Dallapiccola, B

    1995-01-01

    We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome. Images PMID:7897634

  7. Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus.

    Science.gov (United States)

    Wattanasirichaigoon, Duangrurdee; Visudtibhan, Anannit; Jaovisidha, Suphaneewan; Laothamatas, Jiraporn; Chunharas, Amornsri

    2004-07-01

    We report a sporadic case of Lenz-Majewski syndrome (LMS) with newly recognized manifestations including facial palsy, cleft palate and hydrocephalus developing later in infancy. The clinical course of the patient and neuroimaging studies are described. Increased intracranial pressure was recognized and treated early with the aim of preventing neurological morbidity.

  8. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

    OpenAIRE

    Giannotti, A; Digilio, M C; Mingarelli, R; Dallapiccola, B.

    1995-01-01

    We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.

  9. Craniofacial, craniocervical, and pharyngeal morphology in bilateral cleft lip and palate and obstructive sleep apnea patients

    NARCIS (Netherlands)

    Oosterkamp, B.C.M.; Remmelink, H.J.; Pruim, G.J.; Hoekema, A.; Dijkstra, P.U.

    2007-01-01

    Objective: The aim of this study was to analyze craniofacial, craniocervical, and pharyngeal morphology in surgically treated bilateral cleft lip and palate (BCLP) men, untreated men with obstructive sleep apnea (OSA), and a reference group of men. Subjects and methods: Lateral cephalograms were obt

  10. A Procedure for the Computerized Analysis of Cleft Palate Speech Transcription

    Science.gov (United States)

    Fitzsimons, David A.; Jones, David L.; Barton, Belinda; North, Kathryn N.

    2012-01-01

    The phonetic symbols used by speech-language pathologists to transcribe speech contain underlying hexadecimal values used by computers to correctly display and process transcription data. This study aimed to develop a procedure to utilise these values as the basis for subsequent computerized analysis of cleft palate speech. A computer keyboard…

  11. Implementation of standardized medical photography for cleft lip and palate audit.

    Science.gov (United States)

    Jones, Marie; Cadier, Michael

    2004-12-01

    Much has been published relating to the treatment and surgical outcome of cleft lip and palate disorders. Clinical audit is one of the most important tools for assessing the quality of care provided, with medical photography an invaluable component of this process. The Clinical Standards Advisory Group Report 1998 recommended that cleft lip and palate patients should be audited when 0 (under 1 year of age), and then at the ages of 5, 10, 15 and 20 years. For both audit and research purposes, medical photographs need to be accurate and of a consistently high standard. This paper describes the development of a standardized photographic protocol for cleft patients of audit age, to the benefit of both the multidisciplinary team and the patients.

  12. Diagnosis of a Cleft Lip and/or Palate: A Critical Review of Parental Support and Agenda for Research and Policy

    OpenAIRE

    Moreland, Helen Jane

    2013-01-01

    Background: Cleft lip and/or palate is a relatively common facial anomaly that forms during the first trimester of foetal development. Following recent standardisation of antenatal scanning, UK care providers aim to detect 75% of cleft lips before birth, yet cleft palates rely on postnatal screening for diagnosis. Diagnosis of a cleft lip and/or palate is an emotionally challenging time for parents requiring an holistic approach to care. Aims: This review aims to critically explore ...

  13. Assessment of middle ear function in patients with cleft palate treated under "Smile Train Project"

    Directory of Open Access Journals (Sweden)

    Prachi Gautam

    2011-01-01

    Full Text Available Objective: To evaluate the middle ear function in patients of cleft palate treated under "Smile Train Project". Materials and Methods: Sixty patients (120 ears; 32 male and 28 female of cleft palate with or without cleft lip were evaluated in pediatrics and ENT OPD in preoperative period. A general medical check up was performed in pediatrics OPD to evaluate the associated craniofacial anomalies. Middle ear function was evaluated in ENT OPD. Otoscopy was done in all patients. Cases under five years of age were evaluated for middle ear function by tympanometry and cases with more than five years of age were evaluated by tympanometry for middle ear function and pure tone audiometry to establish the type of hearing loss. The results are presented as number of ears. Results: A total of 50% of the patients in the study group were in zero- to two-year age group. Otoscopy findings in 120 ears showed that 66.66% of the patients had dull tympanic membrane suggesting a diagnosis of otitis media with effusion. Tympanometry was done in 110 ears, of which, 72.72% of ears had type B tympanogram suggesting otitis media with effusion. Pure tone audiometry in more than five years age group showed that 81.25% ears had conductive hearing loss. Conclusion: This study suggests the need of preoperative ENT check up and audiological assessment in patients of cleft palate undergoing palatal surgery under "Smile Train Project". The association of otitis media with effusion in patients with cleft palate appears strong and a high degree of suspicion for the disease should be kept in them. The anatomical defect and possible causative pathophysiology also supports the inference. Otitis media with effusion causing hearing loss in these patients causes speech delay and unfavorable outcome despite aggressive speech therapy in postoperative period. A co-ordinate team approach of concerned specialists involved in managing these patients would definitely improve their outcome.

  14. Esthetic, Functional, and Everyday Life Assessment of Individuals with Cleft Lip and/or Palate

    Science.gov (United States)

    Papamanou, Despina A.; Karamolegkou, Marina; Dorotheou, Domna

    2015-01-01

    Objectives. To evaluate the level of satisfaction of individuals with cleft lip and/or palate (CLP) and their parents concerning the esthetic and functional treatment outcomes, the impact of the cleft on everyday life, and potential associations with treatment outcome satisfaction. Subjects and Methods. The sample consisted of 33 patients (7 CP, 20 unilateral CLP, and 6 bilateral CLP; median age: 17.1, range: 9.0–33.1 years) and 30 parents, who responded to a questionnaire in an interview-guided session. All participants received their orthodontic treatment at the Department of Orthodontics in the University of Athens. Results. Patients and their parents were quite satisfied with esthetics and function. Patients with UCLP primarily were concerned about nose esthetics (BCLP about lip esthetics and CP about speech). Increased satisfaction was associated with decreased influence of the cleft in everyday life (0.35 < rho < 0.64, P < 0.05). Parents reported significant influence of the cleft on family life, while patients did not. Conclusions. Despite the limited sample size of subgroups, the main concerns of patients with different cleft types and the importance of satisfying lip, nose, and speech outcomes for an undisturbed everyday life were quite evident. Thus, the need for targeted treatment strategies is highlighted for individuals with cleft lip and/or palate. PMID:26064918

  15. Addressing the challenges of cleft lip and palate research in India

    Directory of Open Access Journals (Sweden)

    Mossey Peter

    2009-10-01

    Full Text Available The Indian sub-continent remains one of the most populous areas of the world with an estimated population of 1.1 billion in India alone. This yields an estimated 24.5 million births per year and the birth prevalence of clefts is somewhere between 27,000 and 33,000 clefts per year. Inequalities exist, both in access to and quality of cleft care with distinct differences in urban versus rural access and over the years the accumulation of unrepaired clefts of the lip and palate make this a significant health care problem in India. In recent years the situation has been significantly improved through the intervention of Non Governmental Organisations such as SmileTrain and Transforming Faces Worldwide participating in primary surgical repair programmes. The cause of clefts is multi factorial with both genetic and environmental input and intensive research efforts have yielded significant advances in recent years facilitated by molecular technologies in the genetic field. India has tremendous potential to contribute by virtue of improving research expertise and a population that has genetic, cultural and socio-economic diversity. In 2008, the World Health Organisation (WHO has recognised that non-communicable diseases, including birth defects cause significant infant mortality and childhood morbidity and have included cleft lip and palate in their Global Burden of Disease (GBD initiative. This will fuel the interest of India in birth defects registration and international efforts aimed at improving quality of care and ultimately prevention of non-syndromic clefts of the lip and palate.

  16. Caries prevalence and enamel defects in 5- and 10-year-old children with cleft lip and/or palate

    DEFF Research Database (Denmark)

    Sundell, Anna Lena; Nilsson, Anna-Karin; Ullbro, Christer;

    2016-01-01

    OBJECTIVE: To determine the prevalence of dental caries and enamel defects in 5- and 10-year-old Swedish children with cleft lip and/or palate (CL(P)) in comparison to non-cleft controls. MATERIALS AND METHODS: The study group consisted of 139 children with CL(P) (80 subjects aged 5 years and 59...... prevalence of enamel defects was found in CL(P) children of both age groups and anterior permanent teeth were most commonly affected. CONCLUSIONS: Preschool children with cleft lip and/or palate seem to have more caries in the primary dentition than age-matched non-cleft controls. Enamel defects were more...

  17. The association between dental arch dimensions and occurrence of Finnish dental consonant misarticulations in cleft lip/palate children.

    Science.gov (United States)

    Laitinen, J; Ranta, R; Pulkkinen, J; Haapanen, M L

    1998-10-01

    The aim of this study was to examine whether maxillary and mandibular dental arch width, length, and palatal height dimensions are associated with the occurrence of misarticulations (phonetic or phonologic errors) in the dental consonants /r/, /s/, and /1/ in different cleft types and sexes. The subjects were 263 (109 girls, 154 boys) 6-year-old Finnish-speaking non-syndromic children with isolated cleft palate (CP, n=79), deft lip/alveolus (CL(A), n=77), unilateral (UCLP, n=80), and bilateral (BCLP, n=27) cleft lip and palate. Dental plaster casts were measured by two authors using the technique of Moorrees, and auditive speech was analyzed with high reliability by two speech pathologists. The results showed that the occurrence of misarticulations increased and dental arch dimensions decreased with the severity of the cleft. Narrower and shorter maxillary arches as well as shallower palates were related to problems with the studied dental consonants. Mandibular arch dimensions were not related to the misarticulations. However, statistical analysis did not reveal significant differences in dental arch dimensions between subjects with and without misarticulations when they were compared separately for different cleft types. The etiology of clefting per se--isolated deft palate versus cleft lip with or without deft palate--did not seem to explain the associations between dental arch dimensions and the studied misarticulations.

  18. Prevalence and management of natal/neonatal teeth in cleft lip and palate patients

    Science.gov (United States)

    Yilmaz, R. Burcu Nur; Cakan, Derya Germec; Mesgarzadeh, Nasim

    2016-01-01

    Objective: The aim of this study was to determine the prevalence and distribution of natal/neonatal teeth in infants with cleft lip and palate (CLP) according to gender, involving jaw and side and to show the management of some cases. Materials and Methods: A retrospective study was carried out on medical history and photographic records of 69 infants with CLP, who were treated at the CLP clinic of Yeditepe University between years 2014–2015. The presence of neonatal teeth was determined, and if present the gender, type of cleft, and position were recorded. Statistical analysis was performed. Results: Neonatal teeth were observed in 7% of the study group. No significant differences were found between cleft types and gender (P > 0.05). The prevalence of neonatal teeth in bilateral, unilateral and isolated cleft type was 16.5%, 6.5%, and none, respectively. All neonatal teeth were located in the maxilla and on the cleft-side (100%). Conclusion: The presence of natal/neonatal teeth in infants with CLP was not rare. In all of these cases the teeth were located adjacent to the cleft region. In isolated palatal cleft, where the alveolar region including the teeth buds are away from the cleft, no neonatal teeth were observed. It may be concluded that neonatal teeth in infants with CLP are frequently present and located inside the borders of the presurgical orthopedic treatment (POT) plate. Therefore, if possible, immediate extraction of the neonatal teeth is advised or if not possible because of systemic health reasons, modifications of the plate are required. PMID:27011740

  19. Craniofacial morphology of children with complete unilateral cleft lip and palate following labioplasty and palatoplasty

    Directory of Open Access Journals (Sweden)

    Sigit Handoko Utomo

    2012-06-01

    Full Text Available Background: A complete unilateral cleft lip and palate generally results in asymmetry of the midface. The lack of continuity in the perilabial musculature through the midline contributes to a malpositioning of the underlying osseus structures which are often underdeveloped. Purpose: The purpose of this study was to determine whether there are differences in the craniofacial morphology among children with complete unilateral cleft lip and palate following labioplasty and palatoplasty as compared with children without cleft lip and palate at the same pubertal age. Methods: A series of 14 consecutively treated subjects with complete unilateral cleft lip and palate following labioplasty and palatoplasty were compared with 14 pubertal stage-matched controls with normal craniofacial structure. Pubertal stage was determined with cervical vertebral maturation (CVM method improved by Baccetti et al, 2002. Lateral cephalograms were used for comparison. An unpaired t-test was run for 14 subjects with complete unilateral cleft lip and palate and 14 normal subjects. Results: There were significant cephalometric differences in anterior cranial base length (p = .002, cranial base length (p = .001, maxillary length (p = .000, mandibular length (p = .000, mandibular ramus height (p = .000, mandibular body length (p = .002, and upper anterior face height (p = .004. There was no significant cephalometric difference in posterior cranial base length (p = .051, lower anterior face height (p = .206, posterior face height (p = .865, growth pattern/ facial type (p = .202. Conclusion: There were craniofacial morphology differences between children with complete unilateral cleft lip and palate post labioplasty and palatoplasty and children without cleft lip and palate at the age of pubertal. Children with complete unilateral cleft lip and palate post labioplasty and palatoplasty had shorter length of the anterior cranial base, cranial base, maxilla, mandible, mandibular

  20. Frontal cephalometric evaluation of transverse dentofacial morphology and growth of children with isolated cleft palate.

    Science.gov (United States)

    Athanasiou, A E; Moyers, R E; Mazaheri, M; Toutountzakis, N

    1991-08-01

    The transverse dentofacial morphology and growth of 64 children operated on for clefting of the hard and soft palate was studied by means of a frontal proportional cephalometric analysis and was compared to a normal sample at the ages 3-4, 8-9 and 12 years. The cross-sectional comparison of the cleft palate and normal samples at the three periods indicated: (a) The presence in the cleft group of significantly increased ratios of the inner orbital width to the interorbital width and of the width of the nasal cavity to the interorbital width; (b) the absence of any significant differences in the ratio of the maxillary intermolar width to the interorbital width; and (c) the presence of almost identical ratios of the intergonial width of the mandible to the interorbital width and of the width of the maxilla to the intergonial width of the mandible. Evaluation of the changes of all cephalometric variables during the period 8-12 years showed the absence of any significant difference between the cleft palate and normal groups. PMID:1939671

  1. Influence of palatoplasty on occlusion of patients with isolated cleft palate

    Directory of Open Access Journals (Sweden)

    Omar Gabriel da Silva Filho

    2012-04-01

    Full Text Available OBJECTIVE: This study compared the dental arch morphology of adult patients with isolated cleft palate in order to verify the influence of palatoplasty on occlusion. METHODS: Cast models of 77 patients, 30 males and 47 females, with an average age of 21 years and no syndromes were taken. They were in the permanent dentition and had not undergone orthodontic treatment. The sample was divided into non-operated and operated patients, the latter having been submitted to palatoplasty at a mean age of 2.2 years. RESULTS: Almost 80% of the sample exhibited sagittal discrepancies in the inter-arch relationship, with a Class II malocclusion prevailing (59.74% followed by Class III (20,78%, regardless of palatoplasty. Transverse analysis showed a 23% incidence of posterior crossbite also not influenced by palatoplasty. Intra-arch relationship indicated that constriction and crowding on the upper arch were more frequent in the operated group (p=0.0238 and p=0.0002, respectively, showing an influence of palatoplasty on its morphology. The predominant morphological characteristics in patients with isolated cleft palate were a Class II malocclusion, upper dental arch constriction and upper and lower anterior crowding. CONCLUSION: The influence of palatoplasty was restricted to constriction and crowding of the upper dental arch, with no interference from the extension of the cleft, except for the upper crowding, which occurred more in patients with complete cleft palates.

  2. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES and cleft lip and palate. Report of two Brazilian families

    Directory of Open Access Journals (Sweden)

    N.M. Kokitsu-Nakata

    1998-06-01

    Full Text Available We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES. The girl presented cleft palate and the boy showed cleft lip and palate as additional clinical signs. Both showed familial recurrence in fourth and third generations, respectively. The other family members also presented blepharophimosis, ptosis, and epicanthus inversus, but without lip and palatal involvement. There were no additional clinical signs nor infertility in these patients. To our knowledge this is the first instance of cleft lip and palate reported as additional signs of the BPES syndrome.Os autores descrevem uma menina e um menino com a síndrome de blefarofimose, ptose e epicanto inverso (BPES. A menina apresentou fissura de palato e o menino mostrou fissura de lábio e palato como sinais clínicos adicionais. Ambos mostraram recorrência familial em quatro e três gerações, respectivamente. Outros membros de ambas as famílias apresentaram também blefarofimose, ptose e epicanto inverso, mas sem envolvimento de lábio e palato. Não existem sinais clínicos adicionais nem infertilidade nestes pacientes. De acordo com o nosso conhecimento, este é o primeiro relato de fissura de lábio e palato registrada como sinal adicional na síndrome BPES.

  3. The status of oral hygiene in cleft lip, palate patients after surgical correction

    Directory of Open Access Journals (Sweden)

    Pandey S

    2005-01-01

    Full Text Available The cleft lip and palate patients usually present a number of problems viz. altered oral anatomy leading to changes in oral physiology diminishing the self-cleansing ability of individual. The handicapped children are unable to maintain their oral hygiene properly. The present study was formulated with the aim that does normalization of oral anatomy have its effect on improvement of oral hygiene? An assessment of oral hygiene index-simplified was performed between preoperative and postoperative values in the same patient at KGMU and KGDU. A total of 50 cases were recorded in two groups of 25 each: (i < 6 years old and (ii > 6 years. The observations are statistically analyzed by paired ′t′ test to get the significance of results. Results: The data analyzed showed the significant decrease in oral hygiene indices observed in both groups. A relative significance in oral hygiene status following surgery was observed. Both groups expressed greater significance when compared pre and postoperatively which is indicative of considerable improvement of oral hygiene after surgical correction. The study concludes that oral hygiene improves more in older cleft lip-palate cases following reconstruction of palatal vault, premaxilla and anterior lip seal by secondary bone grafting method when compared with oral hygiene indices results in primary periosteoplasty cases. The surgical correction of cleft lip palate enhances self-cleaning ability and better compliance to maintain oral hygiene in children as the age advances.

  4. Nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate.

    Science.gov (United States)

    Fudalej, Piotr; Katsaros, Christos; Hozyasz, Kamil; Borstlap, Wilfred A; Kuijpers-Jagtman, Anne Marie

    2012-10-01

    The objective of this study was to evaluate the association between nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate (CUCLP). Frontal and basal photographs of 60 consecutively treated children with CUCLP (cleft group: 41 boys and 19 girls, mean (SD) age 11 (2) years) and 44 children without clefts (control group: 16 boys and 28 girls, mean (SD) age 11(2) years), were used for evaluation of nasolabial symmetry and aesthetics. Nasal and labial measurements were made to calculate the coefficient of asymmetry (CA). The 5-grade aesthetic index described by Asher-McDade et al. was used to evaluate nasolabial appearance. Correlation and regression analysis were used to identify an association between aesthetics and CA, sex, and the presence of CUCLP. Ten measurements in the cleft, and 2 in the control, group differed significantly between the cleft and non-cleft (or right and left) sides, respectively. The significantly higher values of 9 of 11 CA in the children with CUCLP indicated that they had more asymmetrical nasolabial areas than children without clefts. However, the regression analyses showed that only a few CA were associated with nasolabial aesthetics. In conclusion, nasolabial aesthetics and nasolabial symmetry seem to be only weakly associated in patients with CUCLP.

  5. The Effect of Cleft Lip and Palate, and the Timing of Lip Repair on Mother-Infant Interactions and Infant Development

    Science.gov (United States)

    Murray, Lynne; Hentges, Francoise; Hill, Jonathan; Karpf, Janne; Mistry, Beejal; Kreutz, Marianne; Woodall, Peter; Moss, Tony; Goodacre, Tim

    2008-01-01

    Background: Children with cleft lip and palate are at risk for psychological problems. Difficulties in mother-child interactions may be relevant, and could be affected by the timing of lip repair. Method: We assessed cognitive development, behaviour problems, and attachment in 94 infants with cleft lip (with and without cleft palate) and 96…

  6. Non-syndromic cleft lip and palate: could stress be a causal factor?

    Science.gov (United States)

    Wallace, Graeme H; Arellano, Jacinta M; Gruner, Tini M

    2011-03-01

    The aetiology of non-syndromic cleft lip and palate has as yet not been clearly defined. Familial relationships, environmental toxins and nutritional status have all been considered without conclusive results, although in some studies a potential link between non-syndromic cleft lip and palate and any one or more of these factors has been proposed. Elevated stress, particularly an extended term of traumatic stress, can lead to oxidative damage at the cellular level via hypothalamus-pituitary-adrenal (HPA) axis dysregulation, high cortisol and cytokine production. The effect of this hormonal shift is to re-direct the blood supply to the mother's muscles, thereby reducing the supply to the placenta, causing a potential nutritional deficiency which may then result in a genetic alteration in the foetus. Mothers with a child aged two years or younger who had been born with a cleft, who were members of CleftPals, a family support group, volunteered to be participants in this qualitative study. The research first called for a survey to be completed by the mother and this was then followed by an interview conducted by the researcher. The study involved families living in the three eastern States of Australia. The results suggest that physical and/or emotional stress may well be implicated in clefting. While little work has been done in considering stress as a causal factor, the existing literature suggests, as does this study, that elevated stress levels at, or soon after, conception appear to affect foetal development. PMID:20832377

  7. Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans

    Science.gov (United States)

    Cooper, Margaret E.; Butali, Azeez; Standley, Jennifer; Rigdon, Jennifer; Suzuki1, Satoshi; Gongorjav, Ayana; Shonkhuuz, T. Enkhtur; Natsume, Nagato; Shi, Bing; Marazita, Mary L.; Murray, Jeffrey C.

    2015-01-01

    Genome wide association (GWA) studies have successfully identified at least a dozen loci associated with orofacial clefts. However, these signals may be unique to specific populations and require replication to validate and extend findings as a prelude to etiologic SNP discovery. We attempted to replicate the findings of a recent meta-analysis of orofacial cleft GWA studies using four different ancestral populations. We studied 946 pedigrees (3436 persons) of European (US white and Danish) and Asian (Japanese and Mongolian) origin. We genotyped six SNPs which represented the most significant P value associations identified in published studies: rs742071 (1p36), rs7590268 (2p21), rs7632427 (3p11.1), rs12543318 (8q21.3), rs8001641 (13q31.1) and rs7179658 (15q22.2). We directly sequenced three non-coding conserved regions 200kb downstream of SPRY2 in 713 cases, 438 controls, and 485 trios from the US, Mongolia, and the Philippines. We found rs8001641 to be significantly associated with cleft lip with cleft palate (NSCLP) in Europeans (p-value=4 × 10−5, ORtransmission=1.86 with 95% confidence interval: 1.38-2.52). We also found several novel sequence variants in the conserved regions in Asian and European samples, which may help to localize common variants contributing directly to the risk for NSCLP. This study confirms the prior association between rs8001641 and NSCLP in European populations. PMID:25786657

  8. Three-Dimensional Assessment of Early Surgical Outcome in Repaired Unilateral Cleft Lip and Palate: Part 2. Lip Changes.

    LENUS (Irish Health Repository)

    Ayoub, Ashraf

    2010-09-08

    Abstract Objective: To evaluate 3D lip morphology, following primary reconstruction in children with unilateral cleft lip and palate (UCLP) relative to contemporaneous non-cleft data Design: Prospective, cross-sectional, controlled study Setting: Glasgow Dental Hospital & School, University of Glasgow, The UK. Patients and Participants: Two groups of 3-year old children (21 with unilateral cleft lip and palate and 96 controls) with facial images taken using a 3D vision based capture technique. Methods: 3D images of the face were reflected so the cleft was on the left side to create a homogenous group for statistical analysis. Three-dimensional co-ordinates of anthropometric landmarks were extracted from facial images. 3D generalised Procustes superimposition was employed and a set of linear measurements were utilised to compare between cleft and control subjects for right and left sides, adjusting for sex differences. Results: Christa philteri on both the cleft and non-cleft sides were displaced laterally and posteriorly; there was also a statistically significant increase in philtrum width. No significant differences between cleft and control regarding the cutaneous height of the upper lip. The lip in the cleft cases was flatter than in the non-cleft cases with less prominence of labialis superioris. Conclusions: Stereophotogrammetry allows detection of residual dysmorphology following cleft repair. There was significant increase of the philtrum width. The lip appeared flatter and more posterior displaced in Unilateral Cleft Lip and Palate (UCLP) cases compared with control. Keywords: child, cleft lip and palate, lip repair, three-dimensional imaging.

  9. Analysis on risk factors with congenital cleft lip and cleft palate%先天性唇腭裂危险因素分析

    Institute of Scientific and Technical Information of China (English)

    魏东义; 杨建斌

    2009-01-01

    目的 探讨先天性唇腭裂的危险因素,为预防先天性唇腭裂患儿出生提供科学的依据.方法 对先天性唇腭裂患儿285例行1:1病例对照研究.结果 家族史情况、孕早期放射线照射情况、毒物接触情况、孕早期感染情况以及孕妇的精神、职业6个因素与唇腭裂的发生有统计学联系(P<0.05).结论 预防先天性唇腭裂患儿的出生,必须作好产前诊断,避免接触环境中的致畸因素,保持孕期身体健康和精神愉快.%Objective To find the methods how to prevent the birth of infants through analyzing the risk factor of congenital cleft lip and cleft palate. Methods A case control study was conducted among the parents of 285 infants with cleft lip and cleft palate and the parents of 285 normal infants who were matched as the control. Results Accord-ing to simple factor analysis,6 factors were significantly associated with cleft lip and cleft palate(P <0. 05) ,including family history of cleft lip and cleft palate,ray irradiation,the toxic exposure,early infection,mental stress and job occu-pation in duration of pregnancy. Conclusions Prevention of congenital cleft lip and palate at birth, prenatal diagnosis must be ready to avoid exposure to teratogenic factors in the environment, and maintain good health during pregnancy and mental pleasure.

  10. Treatment of cleft lip and palate during the Revolutionary war: bicentennial reflections.

    Science.gov (United States)

    Rogers, B O

    1976-10-01

    Cleft palate surgery was not performed either in Europe or in America during the time of America's Revolutionary War. Cleft lip surgery was performed by the pinning and figure-of-eight thread method of closure in keeping with current European teachings on the subjects. This surgery was frequently performed by itinerant mendicants, charlatans, and also by the more legitimate members of the surgical community living in the 13 states at the time of the Revolution. A brief review of the surgical methods employed form the major portion of the article. PMID:786505

  11. Combination of congenital cleft lip and palate with congenital diaphragmatic hernia: a severe disease course

    Institute of Scientific and Technical Information of China (English)

    LI Yang; XIONG Wan-lin; SHI Bing

    2006-01-01

    @@ Congenital cleft lip and palate (CLP) is the most common birth defect now in China. The incidence is 1.62‰ according to the data (1988-1992) provided by the National Center for Birth Defects Monitoring.1 It is also one of the congenital anomalies that have excellent prognosis. But severe complications may occur in the cases accompanied some other deformities. Here we report a case of death caused by left-sided posterolateral congenital diaphragmatic hernia (CDH), type Bochdalek, after the cleft operation.

  12. Base of the skull morphology and Class III malocclusion in patients with unilateral cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Mariana Maciel Tinano

    2015-02-01

    Full Text Available OBJECTIVE: The aim of the present study was to determine the morphological differences in the base of the skull of individuals with cleft lip and palate and Class III malocclusion in comparison to control groups with Class I and Class III malocclusion. METHODS: A total of 89 individuals (males and females aged between 5 and 27 years old (Class I, n = 32; Class III, n = 29; and Class III individuals with unilateral cleft lip and palate, n = 28 attending PUC-MG Dental Center and Cleft Lip/Palate Care Center of Baleia Hospital and PUC-MG (CENTRARE were selected. Linear and angular measurements of the base of the skull, maxilla and mandible were performed and assessed by a single calibrated examiner by means of cephalometric radiographs. Statistical analysis involved ANCOVA and Bonferroni correction. RESULTS: No significant differences with regard to the base of the skull were found between the control group (Class I and individuals with cleft lip and palate (P > 0.017. The cleft lip/palate group differed from the Class III group only with regard to CI.Sp.Ba (P = 0.015. Individuals with cleft lip and palate had a significantly shorter maxillary length (Co-A in comparison to the control group (P < 0.001. No significant differences were found in the mandible (Co-Gn of the control group and individuals with cleft lip and palate (P = 1.000. CONCLUSION: The present findings suggest that there are no significant differences in the base of the skull of individuals Class I or Class III and individuals with cleft lip and palate and Class III malocclusion.

  13. Prenatal Counseling, Ultrasound Diagnosis, and the Role of Maternal-Fetal Medicine of the Cleft Lip and Palate Patient.

    Science.gov (United States)

    James, Jeffrey N; Schlieder, Daniel W

    2016-05-01

    A multidisciplinary team is the standard of care and the cornerstone of management of cleft patients. With readily improving advanced diagnostic modalities, early prenatal diagnosis of cleft lip and palate increasingly becomes a topic of importance for both the team caring for and families of cleft patients. Maternal-fetal medicine is a fellowship subspecialty of obstetrics that can offer high-quality care and coordination to the cleft team. Both 3-D and 4-D sonography lead to early prenatal diagnosis of cleft patients; however, differences in training result in variations in its diagnostic accuracy. PMID:26928557

  14. Comparing caries risk profiles between 5- and 10- year-old children with cleft lip and/or palate and non-cleft controls

    OpenAIRE

    Lena Sundell, Anna; Ullbro, Christer; Marcusson, Agneta; Twetman, Svante

    2015-01-01

    Background: Previous studies have suggested that children with oral clefts may have higher caries prevalence in comparison with non-cleft controls but the relative importance of the potential risk factors is not clear. The aim of this study was to compare the caries risk profiles in a group of cleft lip and/or palate (CL(P)) children with non-cleft controls in the same age using a computerized caries risk assessment model. Methods: The study group consisted of 133 children with CL(P) (77 subj...

  15. Do patients with isolated Pierre Robin Sequence have worse outcomes after cleft palate repair: A systematic review.

    Science.gov (United States)

    Wan, Teng; Chen, Yang; Wang, Guomin

    2015-08-01

    Cleft palate repair for Pierre Robin Sequence (PRS) patients has always been a challenge for surgeons and anesthetists. The aim of this systematic review is to investigate the outcome of cleft palate repair for PRS patients compared with cleft palate-only patients. All papers published before October 2014 were searched in the databases PubMed and MEDLINE. Search terms included "Pierre Robin Sequence," "cleft palate repair," and "speech result." Additional studies were identified by hand searching the reference lists of the papers retrieved from electronic search. Two independent reviewers assessed the eligibility of studies for inclusion, extracted the data, and assessed the quality of the studies. Six studies met the inclusion criteria. All but one study had multiple deficiencies in study designs. Four studies assessed the fistula rate of both groups, and all studies assessed some aspect of the speech results. Conflicting results and a lack of high-quality and long-term outcomes of reviewed studies provided no conclusive scientific evidence about whether the outcome of cleft palate repair for PRS patients was better or worse than cleft palate-only patients. Further well-designed, well-controlled, and long-term studies are needed.

  16. Perceptual judgements of resonance, nasal airflow, understandability and acceptability in speakers with cleft palate: ordinal versus visual analogue scaling

    OpenAIRE

    Castick, S.; Knight, R.-A.; Sell, D

    2015-01-01

    Objective: To investigate the reliability of ordinal versus visual analogue scaling (VAS) ratings for perceptual judgements of nasal resonance, nasal airflow, understandability and acceptability in speakers with cleft palate. Design: Within subjects comparative study. Setting: Multisite. Participants: Five Specialist Speech and Language Therapists from UK Regional Cleft Centers. Outcome measures: Participants rated 30 audio speech samples obtained from the Speech and Language...

  17. The Impact of Early Infant Jaw-Orthopaedics on Early Speech Production in Toddlers with Unilateral Cleft Lip and Palate

    Science.gov (United States)

    Lohmander, Anette; Lillvik, Malin; Friede, Hans

    2004-01-01

    The purpose of study was to investigate the impact of pre-surgical Infant Orthopaedics (IO) on consonant production at 18 months of age in children with Unilateral Cleft Lip and Palate (UCLP) and to compare the consonant production to that of age-matched children without clefts. The first ten children in a consecutive series of 20 with UCLP…

  18. Spectral Analysis of Word-Initial Alveolar and Velar Plosives Produced by Iranian Children with Cleft Lip and Palate

    Science.gov (United States)

    Eshghi, Marziye; Zajac, David J.; Bijankhan, Mahmood; Shirazi, Mohsen

    2013-01-01

    Spectral moment analysis (SMA) was used to describe voiceless alveolar and velar stop-plosive production in Persian-speaking children with repaired cleft lip and palate (CLP). Participants included 11 children with bilateral CLP who were undergoing maxillary expansion and 20 children without any type of orofacial clefts. Four of the children with…

  19. Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

    Directory of Open Access Journals (Sweden)

    Manisha Goyal

    2015-01-01

    Full Text Available The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.

  20. 3D Printed Models of Cleft Palate Pathology for Surgical Education

    Science.gov (United States)

    Lioufas, Peter A.; Quayle, Michelle R.; Leong, James C.

    2016-01-01

    Objective: To explore the potential viability and limitations of 3D printed models of children with cleft palate deformity. Background: The advantages of 3D printed replicas of normal anatomical specimens have previously been described. The creation of 3D prints displaying patient-specific anatomical pathology for surgical planning and interventions is an emerging field. Here we explored the possibility of taking rare pediatric radiographic data sets to create 3D prints for surgical education. Methods: Magnetic resonance imaging data of 2 children (8 and 14 months) were segmented, colored, and anonymized, and stereolothographic files were prepared for 3D printing on either multicolor plastic or powder 3D printers and multimaterial 3D printers. Results: Two models were deemed of sufficient quality and anatomical accuracy to print unamended. One data set was further manipulated digitally to artificially extend the length of the cleft. Thus, 3 models were printed: 1 incomplete soft-palate deformity, 1 incomplete anterior palate deformity, and 1 complete cleft palate. All had cleft lip deformity. The single-material 3D prints are of sufficient quality to accurately identify the nature and extent of the deformities. Multimaterial prints were subsequently created, which could be valuable in surgical training. Conclusion: Improvements in the quality and resolution of radiographic imaging combined with the advent of multicolor multiproperty printer technology will make it feasible in the near future to print 3D replicas in materials that mimic the mechanical properties and color of live human tissue making them potentially suitable for surgical training. PMID:27757345

  1. [The experience of complex treatment of children with bilateral cleft lip and palate].

    Science.gov (United States)

    Supiev, T K; Mamedov, A A; Negametzianov, N G; Nurmaganov, S B; Utepov, D K; Katasonova, E S; Kozhabekov, E M

    2014-01-01

    Three grades of premaxilla deformation were revealed in children with bilateral cleft lip and palate. All patients with grade I and some children with grade II deformation received early orthopedic treatment by Sharova appliance while in patients with grade III deformation orthodontic devices with bone fixation with microimplants were used or microimplants alone for orthodontic anchorage. This approach allowed achieving full side contact of premaxilla and maxillary fragments in 1-2 months thus creating favorable conditions for surgical procedure.

  2. Phonological Processes in the Speech of Jordanian Arabic Children with Cleft Lip and/or Palate

    Science.gov (United States)

    Al-Tamimi, Feda Y.; Owais, Arwa I.; Khabour, Omar F.; Khamaiseh, Zaidan A.

    2011-01-01

    The controlled and free speech of 15 Jordanian male and female children with cleft lip and/or palate was analyzed to account for the different phonological processes exhibited. Study participants were divided into three main age groups, 4 years 2 months to 4 years 7 months, 5 years 3 months to 5 years 6 months, and 6 years 4 months to 6 years 6…

  3. Influence of palatoplasty on occlusion of patients with isolated cleft palate

    OpenAIRE

    Omar Gabriel da Silva Filho; Elisa Teixeira Marinho; Rita de Cássia Moura Carvalho Lauris

    2012-01-01

    OBJECTIVE: This study compared the dental arch morphology of adult patients with isolated cleft palate in order to verify the influence of palatoplasty on occlusion. METHODS: Cast models of 77 patients, 30 males and 47 females, with an average age of 21 years and no syndromes were taken. They were in the permanent dentition and had not undergone orthodontic treatment. The sample was divided into non-operated and operated patients, the latter having been submitted to palatoplasty at a mean age...

  4. The status of oral hygiene in cleft lip, palate patients after surgical correction

    OpenAIRE

    Pandey S; Pandey R

    2005-01-01

    The cleft lip and palate patients usually present a number of problems viz. altered oral anatomy leading to changes in oral physiology diminishing the self-cleansing ability of individual. The handicapped children are unable to maintain their oral hygiene properly. The present study was formulated with the aim that does normalization of oral anatomy have its effect on improvement of oral hygiene? An assessment of oral hygiene index-simplified was performed between preoperative and postoperati...

  5. Negative Events Experienced by Mothers Raising Children with Cleft Lip and Palate

    OpenAIRE

    Nakanii, Mihoko

    2010-01-01

    This study is aimed at clarifying the negative events experienced by mothers raising children with cleft lip and palate. Semi-structured interviews were held with 18 mothers living in Western Japan. The following factors were extracted from content analysis: birth of an unhealthy child, difficulty in remedial education, anxiety over the child's future, improper treatment in the maternity ward, lack of the family understanding, unavailability of social support, the mother's excessive responses...

  6. Nasoalveolar Molding: A new Method for Cleft Lip and Palate Rehabilitation

    Directory of Open Access Journals (Sweden)

    A Jahanbin

    2014-04-01

    Full Text Available Introduction: Cleft lip and palate is a congenital anomaly occurring in 3 in 1000 live birth. One the major concern in this patient is about cleft gap and its surgical problems. Several surgical and non-surgical procedures have been done to decrease this gap. They aimed to achieve the more esthetic results as well as feeding success. Nasoalveolar Molding (NAM is a new method for reshaping nasal and alveolar bones, presurgically. Matsuo et al described that auricular cartilage could be molded permanently when treatment was done within 6 weeks of life. High levels of maternal estrogen in the fetal circulation can triggers hyaluronic acid which can alter the cartilage, ligament and connective tissue elasticity.Estrogen level continue to drop after 6 weeks of age. This concept was applied for the correction of nasal deformities in cleft lip patients. Nasolaveolar molding may stimulate immature nasal chondroblasts and produce interstitial expansion.   Aims of Nasoalveolar Molding: a. Active molding and repositioning of the deformed nasal cartilages and alveolar processes. b. Appropriate Lengthening of the columellac. Better bone healing after surgey due to reducing the gaped. Reduces the need for secondary alveolar bone grafts. Correction of lip position with minimal scarf. Reducing hospital stay for nasal esthetic surgeryg. Better weight gain in early infancy   Conclusion: Management of cleft lip and palate has been changed with more emphasis on the nasal and alveolar molding prior to the primary lip repair. This method reduces the number reconstructive surgeries  for the purpose of esthetics as well as may cause better feeding in early infancy.   Keywords: Cleft Lip and Palate, Infant Orthopedics, Nasal Molding.  

  7. Cone-Beam computed tomography evaluation of maxillary expansion in twins with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Luciane Macedo de Menezes

    2012-04-01

    Full Text Available OBJECTIVE: The establishment of normal occlusal relationships in patients with cleft lip and palate using rapid maxillary expansion may promote good conditions for future rehabilitation. OBJECTIVE: This study describes the clinical case of monozygotic twins with unilateral cleft lip and palate at the age of mixed dentition, who were treated using the same rapid maxillary expansion protocol, but with two different screws (conventional and fan-type expansion screw. Results were evaluated using plaster models, intraoral and extraoral photographs, and Cone-Beam computed tomography (CBCT scans obtained before the beginning of the treatment, (T1. METHODS: The patients were followed up for 6 months after maxillary expansion, when the same tests requested at T1 were obtained again for review (T2. T1 and T2 results were compared using lateral cephalometric tracings and measurements of the intercanine and intermolar distances in the plaster models using a digital caliper. RESULTS: The two types of expansion screws corrected the transverse discrepancy in patients with cleft lip and palate. The shape of the upper arches improved at 10 days after activation. CONCLUSION: CBCT scans provide detailed information about craniofacial, maxillary and mandibular changes resulting from rapid maxillary expansion. The most adequate screw for each type of malocclusion should be chosen after detailed examination of the dental arches.

  8. Velopharyngeal Insufficiency Rates After Delayed Cleft Palate Repair: Lessons Learned From Internationally Adopted Patients.

    Science.gov (United States)

    Follmar, Keith E; Yuan, Nance; Pendleton, Courtney S; Dorafshar, Amir H; Kolk, Craig Vander; Redett, Richard J

    2015-09-01

    Most surgeons recommend cleft palate repair between 6 and 12 months of age. Internationally adopted patients often undergo delayed repair due to social circumstances. There are few outcomes studies on this population. We conducted a 13-year retrospective review of all patients undergoing primary cleft palate repair at a single tertiary-care academic medical center between 1993 and 2006. The primary outcome was velopharyngeal insufficiency, defined as the recommendation for corrective surgery after multiple formal speech assessments. Two hundred one patients (102 males and 99 females) were identified. One hundred eighty-three repairs were performed before 18 months of age (standard repair group). Eighteen repairs were performed after 18 months of age (delayed repair group), with international adoption being a circumstance in 16 cases. The delayed and standard repair groups were similar with regard to sex, presence of craniofacial syndrome, Veau class, cleft size and laterality, type of repair, and operating surgeon. Mean follow-up was 9.3 years, with minimum follow-up of 5.0 years. Six (33%) of 18 patients in the delayed repair group developed velopharyngeal insufficiency compared to 23 (13%) of 183 in the standard repair group (P = 0.03 by Fisher exact test). These data demonstrate that internationally adopted patients undergoing delayed palate repair suffer especially poor speech outcomes. Physiologic differences in patients undergoing late repair, as well as social factors including adaptation to a new language and culture, may be factors. Early repair should be performed when possible. PMID:25046662

  9. Behavioral pattern in Chinese school-aged children with cleft lip and palate

    Institute of Scientific and Technical Information of China (English)

    Pin Ha; Xu-Qing Zhuge; Qian Zheng; Bing Shi; Cai-Xia Gong; Yan Wang

    2013-01-01

    Objective:To obtain descriptive information of behavioral pattern inChinese school-aged children with cleft lip and palate.Methods:A total of93 cleft lip and palate patients between the age of6-11 year-old and treated atWestChinaStomatologyHospital were selected.And another 100 unaffected controls, matched for age and gender, were recruited randomly from a common primary school inChengdu.Chart review of medical records was used to obtain psychosocial checklists.Scores were compared with published norms and controls to evaluate the risk of problems, separately for three diagnostic groups.Results:The patients group had lower scores of social and academic competencies, especially those with facial deformity or speech problem. No difference was found in the aspect of activity competency.All patients showed elevations in behavior problems.But the type of behavior problems varied in different genders.Conclusions:Chinese school-aged children with cleft lip and palate are at raised risk for social and academic difficulties.Specific pattern of behavior problems displays differently depending on gender of the patient.

  10. Modified technique of presurgical infant maxillary orthopedics for complete unilateral cleft lip and palate.

    Science.gov (United States)

    Choo, Hyeran; Maguire, Meg; Low, David W

    2012-01-01

    This article introduces a modified device fabrication and facial taping method that increases the efficiency and efficacy of presurgical infant maxillary orthopedic therapy for babies born with complete cleft lip and palate. Interarch and intra-arch relationships of the maxillary and mandibular dental arches were evaluated on mounted stone models before and after treatment. The palatal plate device was custom-fabricated in a manner that bypassed the need for periodic acrylic addition and removal, thereby eliminating the risk of natural maxillary growth restriction during therapy. Elastic labial tapes were fabricated and applied in a configuration that mimicked normal function of the orbicularis oris muscle. A nasal stent wire was utilized from the initiation of therapy to enhance intraoral retention and stability of the device. Examples of infants undergoing a unilateral complete cleft lip and palate treatment protocol are presented. Treatment objectives were achieved within 7 to 8 weeks of therapy for patients who had an initial alveolar cleft size more than 10 to 12 mm. The modified protocol of presurgical infant maxillary orthopedic therapy is an effective and efficient treatment modality in reversing the pre-existing orofacial dysmorphism by redirecting the infant's natural growth.

  11. Electrophysiological assessment of auditory processing disorder in children with non-syndromic cleft lip and/or palate

    Science.gov (United States)

    McPherson, Bradley; Ma, Lian

    2016-01-01

    Objectives Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should not be ignored since abnormal auditory cortical structures have been found in populations with cleft disorders. The present study utilized electrophysiological tests to assess the auditory status of a large group of children with NSCL/P, and investigated whether this group had less robust central auditory processing abilities compared to craniofacially normal children. Methods 146 children with NSCL/P who had normal peripheral hearing thresholds, and 60 craniofacially normal children aged from 6 to 15 years, were recruited. Electrophysiological tests, including auditory brainstem response (ABR), P1-N1-P2 complex, and P300 component recording, were conducted. Results ABR and N1 wave latencies were significantly prolonged in children with NSCL/P. An atypical developmental trend was found for long latency potentials in children with cleft compared to control group children. Children with unilateral cleft lip and palate showed a greater level of abnormal results compared with other cleft subgroups, whereas the cleft lip subgroup had the most robust responses for all tests. Conclusion Children with NSCL/P may have slower than normal neural transmission times between the peripheral auditory nerve and brainstem. Possible delayed development of myelination and synaptogenesis may also influence auditory processing function in this population. Present research outcomes were consistent with previous, smaller sample size, electrophysiological studies on infants and children with cleft lip/palate disorders. In view of the these findings, and reports of educational disadvantage associated

  12. Current status of presurgical infant orthopaedic treatment for cleft lip and palate patients: A critical review

    Directory of Open Access Journals (Sweden)

    P Priyanka Niranjane

    2014-01-01

    Full Text Available Rehabilitation of cleft lip and palate (CLP patients is a challenge for all the concerned members of the cleft team, and various treatment modalities have been attempted to obtain aesthetic results. Presurgical infant orthopaedics (PSIO was introduced to reshape alveolar and nasal segments prior to surgical repair of cleft lip. However, literature reports lot of controversy regarding the use of PSIO in patients with CLP. Evaluation of long-term results of PSIO can provide scientific evidence on the efficacy and usefulness of PSIO in CLP patients. The aim was to assess the scientific evidence on the efficiency of PSIO appliances in patients with CLP and to critically analyse the current status of PSIO. A PubMed search was performed using the terms PSIO, presurgical nasoalveolar moulding and its long-term results and related articles were selected for the review. The documented studies report no beneficial effect of PSIO on maxillary arch dimensions, facial aesthetics and in the subsequent development of dentition and occlusion in CLP patients. Nasal moulding seems to be more beneficial and effective in unilateral cleft lip and palate patients with better long-term results.

  13. 唇腭裂的基因研究%GENE RESEARCH OF CLEFT OF LIP AND PALATE

    Institute of Scientific and Technical Information of China (English)

    吕宝辉; 黄洪章

    2000-01-01

    @@ 唇腭裂是一种常见的先天畸形,有家族性发病倾向,文献报道单纯腭裂患者(cleft palate only,CPO)有家族史的约10%~20%,非综合征性唇腭裂(nonsyndromic cleft lip with or without cleft palate,NSCL/P)有家族史的约25%~35%[1],是为大家公认的一种多基因易感性疾病.

  14. The Management of Iatrogenic Obstructive Sleep Apnoea Syndrome Following Bimaxillary Surgery in a Patient with Cleft Lip and Palate.

    Science.gov (United States)

    Gerbino, Giovanni; Gervasio, Fernando Carmine; Blythe, John; Bianchi, Francesca Antonella

    2016-07-01

    A 26-year-old man presented with a 6-year history of severe obstructive sleep apnoea syndrome followed a bimaxillary osteotomy procedure for a class III skeletal pattern. The patient was born with a unilateral cleft lip and palate and underwent primary lip and palate repair and later a pharyngeal flap for severe velopharyngeal insufficiency. Surgical management of obstructive sleep apnoea syndrome with conventional osteotomy, in cleft lip and palate patients, is a difficult problem. Distraction osteogenesis may provide a safer alternative. The authors describe and discuss the indications and the technical challenge of a multistage treatment protocol with distraction osteogenesis. PMID:27391499

  15. Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice.

    Science.gov (United States)

    Zhang, Jian; Yang, Rui; Liu, Ziyi; Hou, Congzhe; Zong, Wen; Zhang, Aizhen; Sun, Xiaoyang; Gao, Jiangang

    2015-11-01

    In mammals, embryonic development are highly regulated morphogenetic processes that are tightly controlled by genetic elements. Failure of any one of these processes can result in embryonic malformation. The lysyl oxidase (LOX) family genes are closely related to human diseases. In this study, we investigated the essential role of lysyl oxidase-like 3 (LOXL3), a member of the LOX family, in embryonic development. Mice lacking LOXL3 exhibited perinatal lethality, and the deletion of the Loxl3 gene led to impaired development of the palate shelves, abnormalities in the cartilage primordia of the thoracic vertebrae and mild alveolar shrinkage. We found that the obvious decrease of collagen cross-links in palate and spine that was induced by the lack of LOXL3 resulted in cleft palate and spinal deformity. Thus, we provide critical in vivo evidence that LOXL3 is indispensable for mouse palatogenesis and vertebral column development. The Loxl3 gene may be a candidate disease gene resulting in cleft palate and spinal deformity.

  16. [Risk factors for teeth aplasia and hypoplasia in cleft lip and palate children].

    Science.gov (United States)

    Korolenkova, M V; Starikova, N V; Ageeva, L V

    2016-01-01

    The aim of the study was to assess the significance of environmental risk factors for teeth aplasia and hypoplasia in cleft lip and palate children. Two hundred and forty-seven cleft lip and palate (CLP) children were enrolled in the study including 105 (42.5%) with bilateral CLP and 57.5% with unilateral CLP. The mean age was 11.2±4.9 years. Teeth condition was assessed clinically and radiologically. The impact of risk factors for teeth anomalies was analyzed by retrospective data obtained from computer database (absence of preoperative orthopedic treatment, palatal defects after primary palatoplasty and type of primary procedures). Surgical trauma by early periosteoplasty (at the age of 3-4 months), excessive scarring and tissue traction due to absence of early orthopedic treatment and palatal defect were associated with significantly higher incidence of incisors hypoplasia (both developmental enamel defects and microdentia) and aplasia of central incisors not seen in the other study subgroups. Incisors aplasia and hypoplasia in CLP patients do not always have disembryogenic origin but may depend on external environmental factors, including surgical trauma.

  17. Comparative Evaluation of Prevalence of Upper Cervical Vertebrae Anomalies in Cleft Lip/Palate Patients: A Retrospective Study

    Science.gov (United States)

    Datana, Sanjeev; Kumar, Prasanna; Kumar Roy, Supriya; Londhe, Sanjay

    2014-01-01

    ABSTRACT% Purpose: The patients with cleft lip and palate have a higher risk of cervical vertebrae anomalies than do patients in general population. The aim of present study was to determine the prevalence of various upper cervical spine anomalies in different type of clefts. Procedures: Lateral cephalograms of 128 patients (66 males, 62 females) with cleft lip and palate, and 125 (60 males, 65 females) non syndromic patients without cleft lip and palate were selected at random from archive. Cephalograms of the patients were traced and the diagnosis of any cervical vertebrae anomaly was noted. Anomalies were categorized as either: posterior arch deficiency or fusions. Main findings: Prevalence of cervical vertebrae anomalies in the c lef t group was 20. 3% while it was 6.4% in the control group. Further cervical vertebrae anomalies were 16.6% in the CPO group, 19.1% in the BCLP group, and 22.2% in the UCLP group. Conclusion: A higher prevalence of cervical vertebrae anomalies was observed in cleft lip and palate patients. The prevalenc e obser ved is 3 times more in clef t group than c ontrol group. How to cite this article: Datana S, Bhalla A, Kumar P, Roy SK, Londhe S. Comparative Evaluation of Prevalence of Upper Cervical Vertebrae Anomalies in Cleft Lip/Palate Patients: A Retrospective Study. Int J Clin Pediatr Dent 2014;7(3):168-171. PMID:25709295

  18. Three-Dimensional Assessment of Early Surgical Outcome in Repaired Unilateral Cleft Lip and Palate: Part 1. Nasal changes.

    LENUS (Irish Health Repository)

    Ayoub, Ashraf

    2010-08-11

    Abstract Objective: To evaluate 3D nasal morphology following primary reconstruction in children with unilateral cleft lip and palate relative to contemporaneous non-cleft data Design: Prospective, cross-sectional, controlled study. Setting: Glasgow Dental Hospital & School, Faculty of Medicine, Glasgow University Patients and Participants: Two groups of 3-year old children (21 with unilateral cleft lip and palate and 96 controls) with facial images taken using a 3D vision based capture technique. Methods: 3D images of the face were reflected so the cleft was on the left side to create a homogenous group for statistical analysis. Three-dimensional co-ordinates of anthropometric landmarks were extracted from facial images by a single operator. A set of linear measurements was utilised to compare cleft and control subjects on right and left sides, adjusting for sex differences Results: the mean nasal base width and the width of the nostril floor on right and left sides differed significantly between control and Unilateral Cleft Lip and Palate (UCLP) groups. The measurements were greater in UCLP children. The difference in the mean nasal height and mean nasal projection between the groups were not statistically significant. Mean columellar lengths were different between the left and right sides in UCLP cases. Conclusions: There were significant nasal deformities following the surgical repair of UCLP. Keywords: child, cleft lip and palate, three-dimensional imaging.

  19. Behavioral Signs of (Central) Auditory Processing Disorder in Children With Nonsyndromic Cleft Lip and/or Palate: A Parental Questionnaire Approach.

    Science.gov (United States)

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2016-03-01

    Objective Children with nonsyndromic cleft lip and/or palate often have a high prevalence of middle ear dysfunction. However, there are also indications that they may have a higher prevalence of (central) auditory processing disorder. This study used Fisher's Auditory Problems Checklist for caregivers to determine whether children with nonsyndromic cleft lip and/or palate have potentially more auditory processing difficulties compared with craniofacially normal children. Methods Caregivers of 147 school-aged children with nonsyndromic cleft lip and/or palate were recruited for the study. This group was divided into three subgroups: cleft lip, cleft palate, and cleft lip and palate. Caregivers of 60 craniofacially normal children were recruited as a control group. Hearing health tests were conducted to evaluate peripheral hearing. Caregivers of children who passed this assessment battery completed Fisher's Auditory Problems Checklist, which contains 25 questions related to behaviors linked to (central) auditory processing disorder. Results Children with cleft palate showed the lowest scores on the Fisher's Auditory Problems Checklist questionnaire, consistent with a higher index of suspicion for (central) auditory processing disorder. There was a significant difference in the manifestation of (central) auditory processing disorder-linked behaviors between the cleft palate and the control groups. The most common behaviors reported in the nonsyndromic cleft lip and/or palate group were short attention span and reduced learning motivation, along with hearing difficulties in noise. Conclusion A higher occurrence of (central) auditory processing disorder-linked behaviors were found in children with nonsyndromic cleft lip and/or palate, particularly cleft palate. Auditory processing abilities should not be ignored in children with nonsyndromic cleft lip and/or palate, and it is necessary to consider assessment tests for (central) auditory processing disorder when an

  20. Contemporary management of cleft lip and palate in the United Kingdom. Have we reached the turning point?

    Science.gov (United States)

    Colbert, S D; Green, Ben; Brennan, P A; Mercer, N

    2015-09-01

    Babies born with clefts of the lip, and the alveolus or palate, or both, require multidisciplinary, highly specialised treatment from birth to early adulthood. We review the contemporary management of clefts and outline the current treatment protocol adopted by cleft networks in the United Kingdom. We also look at the level of evidence and the restructuring of services that has defined current practice. In light of the recent Cleft Care UK study, we ask whether it is now time to adopt a new philosophy towards the surgical techniques that are used. PMID:26130590

  1. Prospective Analysis of Secondary Alveolar Bone Grafting in Cleft Lip and Palate Patients

    Science.gov (United States)

    Reddy, M Gokul Chandra; Babu, V Ramesh; Rao, V Eswar; Chaitanya, J Jaya; Allareddy, S; Reddy, C Charan Kumar

    2015-01-01

    Background: To assess the success of the uptake of bone graft in cleft alveolus of the cleft lip and palate patients, quantitatively through computed tomography (CT) scan 6 months postoperative. To assess the successful eruption of permanent lateral incisor or canine in the bone grafted area. Materials and Methods: The children age group of 9-21 years with unilateral cleft lip and palate came to the hospital, needing secondary alveolar bone grafting. A detailed history and clinical examination of the patient was taken. A 3D CT scan was taken and the volume of the cleft was measured pre-operatively. After ambulatory period, 3D CT scan of the alveolar cleft region was taken and volume of the bone grafted was measured and patient was discharged from the hospital. After 6 months, patient was recalled and again 3D CT scan was taken and the volume of remaining bone was measured. Results: The mean volume of the defect pre-operatively is 0.80 cm3 with a standard deviation of 0.36 cm3 with minimum volume of the defect 0.44 cm3 and maximum volume of the defect 1.60 cm3. The mean volume of the bone post-operative immediately after grafting is 1.01 cm3 with a standard deviation of 0.52 cm3 with minimum of bone volume is 0.48 cm3 and maximum of 2.06 cm3. The mean volume of the bone after 6 months after bone grafting is 0.54 cm3 with a standard deviation of 0.33 cm3, minimum bone volume of 0.22 cm3 and maximum bone volume of 1.42 cm3. Conclusion: The CT scan is a valuable radiographic imaging modality to assess and follow the clinical outcome of secondary alveolar bone grafting. PMID:25954076

  2. Three-dimensional comparison between the palatal forms in infants with complete unilateral cleft lip, alveolus, and palate (UCLP) with and without Hotz's plate.

    Science.gov (United States)

    Mishima, K; Sugahara, T; Mori, Y; Sakuda, M

    1996-05-01

    A three-dimensional measuring system was developed to analyze changes in palatal forms of UCLP infants. This system quantified the change of the curved surface on a palate by automatically superimposing two wireframe models obtained from casts at different stages of growth. It also analyzed the curvature of the palatal surface. This system was used to study the palates of 20 infants with unilateral cleft lip and palate (UCLP), from the first to fourth months after birth (12 with Hotz's plate and 8 without, selected at random). Both major and lesser maxillary segments without Hotz's plate remained anterior and lateral although those with Hotz's plate moved mesially during the fourth month after birth. In addition, the degrees of curvature on the palatal surfaces with Hotz's plate were less than those without Hotz's plate.

  3. Value of acoustic perceptual method for analysis of compensatory articulation errors in postoperative patients with cleft palate

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Objective To establish an acoustic perceptual method analyzing the compensatory articulation errors in children with operated cleft palate via the formants of Chinese pure vowels. Methods The first three formants which represent vocal transmission character in Chinese pure vowels of 84 subjects with operated cleft palate, were measured by Computerized Speech Signal Processing System (CSSPS). The Chinese vowel graph of postoperative patients with cleft palate was stated by the first formant frequencies (F1) and the second formant frequencies (F2) of the Chinese pure vowels between the two groups. Results Values of F1 and F2 of vowels except [a] in the poor articulation group (Group A) were significantly different from those in the good articulation group (Group B) (P<0.05 or P<0.01). As compared with that in Group B, the vowel graph demonstrated the decreased perceptual distances in Group A. These findings indicated that there might still be the backward movements of tongue, perverted mandibular movements and disharmonious lip movements in addition to the velopharyngeal insufficiency (VPI) in Group A. Conclusion The speech articulation of children with repaired cleft palate should be gained by correcting the aberrant compensatory articulation errors in the condition of velopharyngeal competence. Computerized Speech Signal Processing System (CSSPS), which is regarded as the content of objective quantitative measurement, is a precise, simple, reliable and atroumatic technique for children with cleft palate to analyze pathological compensatory articulation errors.

  4. Distraction osteogenesis and orthognathic surgery for a patient with unilateral cleft lip and palate.

    Science.gov (United States)

    Kim, Ji Hyun; Lee, Il Hong; Lee, Sang Min; Yang, Byoung Eun; Park, In Young

    2015-03-01

    Maxillary deficiency is a common feature in patients with repaired cleft lip and palate. Orthognathic surgery has been the conventional approach for the management of cleft-related maxillary hypoplasia. However, for patients with a severe maxillary deficiency, orthognathic surgery alone has many disadvantages, such as high relapse rates of 25% to 40%, instability, limited amount of advancement, and a highly invasive surgical technique. As an alternative treatment method, distraction osteogenesis has been used successfully in the distraction of the mandible, the maxilla, the entire midface, and the orbits as well as the cranial bones, with stable outcomes. The type of distraction device, either external or internal, can be chosen based on the surgical goals set for the patient. In this study, we report on the use of a rigid external distraction device for maxillary advancement in a 22-year-old woman with a repaired unilateral cleft lip and palate and severe maxillary hypoplasia. After the distraction osteogenesis, 2-jaw surgery was performed to correct the maxillary yaw deviation and the mandibular prognathism.

  5. Long-term outcome of secondary alveolar bone grafting in cleft lip and palate patients

    DEFF Research Database (Denmark)

    Meyer, Steffen; Pedersen, Kirsten Mølsted

    2013-01-01

    The objective was to assess the long-term outcome of secondary alveolar bone grafting (SABG) in cleft lip and palate patients and to examine relationships between preoperative and postoperative factors and overall long-term bone graft success. The records of 97 patients with cleft lip and palate......, who had secondary alveolar bone grafting of 123 alveolar clefts, were examined. Interalveolar bone height was assessed radiographically a minimum of 10 years after grafting using a 4-point scale (I-IV), where types I and II were considered a success. After an average follow-up of 16 years after SABG...... (range = 10.2-22.7 years), 101 of the 123 grafts (82%) were categorised as successes. Mean age in the success group was 12.1 years and 13.6 years in the failure group (p = 0.03). It was found that the success rate was significantly lower (p = 0.02) if SABG was performed after eruption of the tooth distal...

  6. Cleft lip and palate and related factors: A 10 years study in university hospitalised patients at Mashhad — Iran

    Science.gov (United States)

    Noorollahian, Morteza; Nematy, Mohsen; Dolatian, Atiyeh; Ghesmati, Hengameh; Akhlaghi, Saeed; Khademi, Gholam Reza

    2015-01-01

    Background: Oral-facial clefts including cleft lip and palate are the most common congenital malformations of the head and neck. Environmental factors such as maternal hormonal disorders, use of psychiatric medications, vitamin and folic acid deficiency, hypoxia, cigarette smoking and maternal obesity and overweight can affect the incidence of these disorders. In Iran, one of the associated problems is a lack of accurate statistics regarding the present status of the patients, which can cause a disturbance in the health programmes of Ministry of Health and Medical Education. The aim of this study was to report the status of 398 cases of cleft lip and palate in Sheikh and Imam Reza Hospitals of Mashhad over a 10-year period. Materials and Methods: This retrospective descriptive study was performed using data collection method and included the evaluation of the recorded files and completing the data forms. In this study, the file records of 398 patients referring to Mashhad Sheikh and Imam Reza (P.U.H) Hospitals were studied, from the beginning of 2002 to the end of 2011; the obtained data from the files were collected and classified. Results: The highest frequency was related to cleft palate alone (40.7%); frequencies were lower regarding the cleft lip and palate and cleft lip alone (34.41% and 24.87%, respectively). Approximately, half of the patients were from rural areas of the city and had articulation disorders. Most of the patients were the first-born children of the family and their parents were consanguineously married; about one-third of the patients had a family history of the disease. Conclusion: According to the results of the present study, cleft lip is more frequent in males and cleft palate is more prevalent in females; the obtained results are consistent with the global statistics. PMID:26712297

  7. Cleft lip and palate and related factors: A 10 years study in university hospitalised patients at Mashhad - Iran

    Directory of Open Access Journals (Sweden)

    Morteza Noorollahian

    2015-01-01

    Full Text Available Background: Oral-facial clefts including cleft lip and palate are the most common congenital malformations of the head and neck. Environmental factors such as maternal hormonal disorders, use of psychiatric medications, vitamin and folic acid deficiency, hypoxia, cigarette smoking and maternal obesity and overweight can affect the incidence of these disorders. In Iran, one of the associated problems is a lack of accurate statistics regarding the present status of the patients, which can cause a disturbance in the health programmes of Ministry of Health and Medical Education. The aim of this study was to report the status of 398 cases of cleft lip and palate in Sheikh and Imam Reza Hospitals of Mashhad over a 10-year period. Materials and Methods: This retrospective descriptive study was performed using data collection method and included the evaluation of the recorded files and completing the data forms. In this study, the file records of 398 patients referring to Mashhad Sheikh and Imam Reza (P.U.H Hospitals were studied, from the beginning of 2002 to the end of 2011; the obtained data from the files were collected and classified. Results: The highest frequency was related to cleft palate alone (40.7%; frequencies were lower regarding the cleft lip and palate and cleft lip alone (34.41% and 24.87%, respectively. Approximately, half of the patients were from rural areas of the city and had articulation disorders. Most of the patients were the first-born children of the family and their parents were consanguineously married; about one-third of the patients had a family history of the disease. Conclusion: According to the results of the present study, cleft lip is more frequent in males and cleft palate is more prevalent in females; the obtained results are consistent with the global statistics.

  8. Prevalence of polydactyly, syndactyly, amniotic band syndrome, cleft lip, cleft palate and talipes equinovarus in Bayelsa State, Nigeria

    Directory of Open Access Journals (Sweden)

    Oyinbo, Charles A.

    2009-09-01

    Full Text Available Studies on incidence of birth anomalies are abundant world wide, but literatures on general population prevalence of anomalies are scanty, despite the fact that structural anomaly is the 5th leading cause of years of potential life lost prior to age 65 and a major contributor to disabilities. The purpose of this study is to estimate the general population prevalence of polydactyly, syndactyly, amniotic band syndrome, cleft lip, cleft palate, and talipes equinovarus in Bayelsa State, Nigeria. Two thousand (2000 subjects domicile in Bayelsa State were randomly selected for this study. Subjects were physically screened for musculoskeletal anomalies. Individuals with genetic syndromes were excluded. Study did not discriminate between types or sub- types of any anomaly. Results show that the overall population prevalence of musculoskeletal anomalies is 13%; with a high proportion (67% of minor anomalies. The general population prevalence of these anomalies is comparable with known birth prevalence world wide. Thus suggestive that a general population prevalence estimate of an anomaly could be a useful estimate of congenital anomaly in developing countries were record keeping are largely poor.

  9. Lower incidence of nonsyndromic cleft lip with or without cleft palate in females: Is homocysteine a factor?

    Indian Academy of Sciences (India)

    Priyanka Kumari; Akhtar Ali; Krishna K Sukla; Subodh K Singh; Rajiva Raman

    2013-03-01

    In India, as in other parts of the world, nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a highly prevalent birth defect, its incidence in males being twice that in females. A case–control association study has been carried out with respect to homocysteine level and MTHFR C677T, A1298C and SLC19A1 (RFC1) G80A genotypes from an eastern Indian cohort to investigate whether Hcy and other Hcy-pathway genes also contribute to the risk level. While MTHFR 677T and SLC19A1 80G are individually and cumulatively risk factors, SLC19A1 80A appears to be protective against MTHFR 677T risk allele. Elevated Hcy associates with NSCL±P both in case mothers and cases. Significantly, this difference shows a gender bias: the level of elevation of Hcy in female cases is distinctly higher than in males, and more case females are hyperhomocyteinemic than the case males. It implies that compared with the males, higher level of Hcy is needed for NSCL±P to manifest in the females. We consider this as one of the possible factors why the incidence of this disorder in females is much lower than in males.

  10. TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.

    Directory of Open Access Journals (Sweden)

    Yongping Lu

    Full Text Available Nonsyndromic cleft lip with or without cleft palate (NSCL/P are common birth defects with a complex etiology. Multiple interacting loci and possible environmental factors influence the risk of NSCL/P. 12 single nucleotide polymorphisms (SNPs in 7 candidate genes were tested using an allele-specific primer extension for case-control and case-parent analyses in northeast China in 236 unrelated patients, 185 mothers and 154 fathers, including 128 complete trios, and 400 control individuals. TGFA and IRF6 genes showed a significant association with NSCL/P. In IRF6, statistical evidence of an association between rs2235371 (p = 0.003, rs2013162 (p<0.0001 and NSCL/P was observed in case-control analyses. Family based association tests (FBATs showed over-transmission of the C allele at the rs2235371 polymorphism (p = 0.007. In TGFA, associations between rs3771494, rs3771523 (G3822A, rs11466285 (T3851C and NSCL/P were observed in case-control and FBAT analyses. Associations between other genes (BCL3, TGFB3, MTHFR, PVRL1 and SUMO1 and NSCL/P were not detected.

  11. DENTAL CAST STUDY OF ADULT PATIENTS WITH UNTREATED UNILATERAL CLEFT-LIP OR CLEFT-LIP AND PALATE IN INDONESIA COMPARED WITH SURGICALLY TREATED PATIENTS IN THE NETHERLANDS

    NARCIS (Netherlands)

    SPAUWEN, PHM; HARDJOWASITO, W; BOERSMA, J; LATIEF, BS

    1993-01-01

    To determine differences in maxillary and dentoalveolar relationships between untreated and treated patients having unilateral clefts of the lip and alveolus (UCLA) or lip and palate (UCLP), dental cast assessments were done on 70 untreated adult Indonesian patients (UCLA-I, UCLP-I) and 67 Dutch pat

  12. The effect of infant orthopedics on the occlusion of the deciduous dentition in children with complete unilateral cleft lip and palate (Dutchcleft).

    NARCIS (Netherlands)

    Bongaarts, C.A.M.; Kuijpers-Jagtman, A.M.; Hof, M.A. van 't; Prahl-Andersen, B.

    2004-01-01

    OBJECTIVE: Evaluation of the effect of infant orthopedics (IO) on the occlusion of the deciduous dentition in patients with unilateral cleft lip and palate (UCLP). DESIGN: Prospective, two-arm, randomized, controlled clinical trial with three participating cleft palate centers (Dutchcleft). SETTING:

  13. Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report.

    Science.gov (United States)

    Holla, Goda; Ramakrishna, Yeluri; Holla, Anup; Munshi, Autar Krishen

    2014-01-01

    Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly that affects 1:50,000 live births. SMMCI syndrome is characterized by the presence of a single central incisor located on the maxillary midline in both primary and permanent dentitions. It may occur as an isolated finding or in association with developmental defects and systemic involvement. Congenital anomalies associated with SMMCI syndrome can include short stature, mild forms of deviation in craniofacial morphology, mild to severe intellectual disability, congenital heart disease, and cleft lip and/or palate. This report describes a clinical case of a 7-year-old girl with SMMCI syndrome--in addition to bilateral residual cleft and associated nasal regurgitation--that was treated with a removable maxillary obturator. PMID:24598504

  14. Risk of leukemia in first degree relatives of patients with nonsyndromic cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Eduardo GONÇALVES

    2014-01-01

    Full Text Available The aim of this study was to determine the frequency of leukemia in parents of patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P. This case-control study evaluated first-degree family members of 358 patients with NSCL/P and 1,432 subjects without craniofacial alterations or syndromes. Statistical analysis was carried out using Fisher’s test. From the 358 subjects with NSCL/P, 3 first-degree parents had history of leukemia, while 2 out of 1,432 subjects from the unaffected group had a family history of leukemia. The frequency of positive family history of leukemia was not significantly increased in first-degree relatives of patients with NSCL/P.

  15. An unusual type of sucking habit in a patient with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Satyaprasad Savitha

    2009-01-01

    Full Text Available Digit sucking, a form of non-nutritive sucking, is a habit of concern to specialist in various fields such as psychiatrist, psychologist, pediatricians, pediatric dentists, orthodontist, speech pathologist and plastic surgeon. The habits have harmful unbalanced pressures to be born by the immature highly malleable alveolar ridges. Sucking behaviors have long been recognized to affect occlusion and dental arch characteristics. As early as 1870s, Campbell and Chandler recognized that prolonged finger or thumb sucking habits had deleterious effects on certain occlusal traits including anterior open bite, increased over jet and class II canine and molar relationships. However, little is known about digit sucking habit and its effect in a cleft lip and palate child as there is no literature till now reported on the digit sucking in a cleft lip patient.

  16. Ablation of the Sox11 Gene Results in Clefting of the Secondary Palate Resembling the Pierre Robin Sequence.

    Science.gov (United States)

    Huang, Huarong; Yang, Xiaojuan; Bao, Meiling; Cao, Huanhuan; Miao, Xiaoping; Zhang, Xiaoyun; Gan, Lin; Qiu, Mengsheng; Zhang, Zunyi

    2016-03-25

    Mouse gene inactivation has shown that the transcription factor Sox11 is required for mouse palatogenesis. However, whether Sox11 is primarily involved in the regulation of palatogenesis still remains elusive. In this study, we explored the role ofSox11in palatogenesis by analyzing the developmental mechanism in cleft palate formation in mutants deficient in Sox11. Sox11 is expressed both in the developing palatal shelf and in the surrounding structures, including the mandible. We found that cleft palate occurs only in the mutant in which Sox11is directly deleted. As in the wild type, the palatal shelves in the Sox11 mutant undergo outgrowth in a downward direction and exhibit potential for fusion and elevation. However, mutant palatal shelves encounter clefting, which is associated with a malpositioned tongue that results in physical obstruction of palatal shelf elevation at embryonic day 14.5 (E14.5). We found that loss of Sox11led to reduced cell proliferation in the developing mandibular mesenchyme via Cyclin D1, leading to mandibular hypoplasia, which blocks tongue descent. Extensive analyses of gene expression inSox11 deficiency identified FGF9 as a potential candidate target of Sox11 in the modulation of cell proliferation both in the mandible and the palatal shelf between E12.5 and E13.5. Finally we show, using in vitro assays, that Sox11 directly regulates the expression of Fgf9 and that application of FGF9 protein to Sox11-deficient palatal shelves restores the rate of BrdU incorporation. Taken together, the palate defects presented in the Sox11 loss mutant mimic the clefting in the Pierre Robin sequence in humans.

  17. Comprehensive orthodontic treatment of adult patient with cleft lip and palate.

    Science.gov (United States)

    Leiva Villagra, Noemí; Muñoz Domon, Miguel; Véliz Méndez, Sebastian

    2014-01-01

    The aim of the paper is to present full orthodontic treatment of an operated cleft lip adult patient. Case Report. An 18-year-old patient consulted for severe crowded teeth. He comes from a poor family. At that time he already had four operations (velum, palate, lip, and myringotomy). Treatment included maxillary expansion, tooth extraction, and fixed orthodontic, as well as kinesiology and speech therapy treatment. A multidisciplinary approach allowed us to achieve successfully an excellent result for this patient and gave him a harmonic smile and an optimal function without orthognathic surgery. Two years after treatment, occlusion remains stable.

  18. Comprehensive Orthodontic Treatment of Adult Patient with Cleft Lip and Palate

    Directory of Open Access Journals (Sweden)

    Noemí Leiva Villagra

    2014-01-01

    Full Text Available The aim of the paper is to present full orthodontic treatment of an operated cleft lip adult patient. Case Report. An 18-year-old patient consulted for severe crowded teeth. He comes from a poor family. At that time he already had four operations (velum, palate, lip, and myringotomy. Treatment included maxillary expansion, tooth extraction, and fixed orthodontic, as well as kinesiology and speech therapy treatment. A multidisciplinary approach allowed us to achieve successfully an excellent result for this patient and gave him a harmonic smile and an optimal function without orthognathic surgery. Two years after treatment, occlusion remains stable.

  19. Status of larynx in children with congenital cleft of upper lip and palate

    Directory of Open Access Journals (Sweden)

    Nigora Makhkamova

    2010-09-01

    Full Text Available Study of 215 children with congenital cleft of upper lip and palate in the age of 1.5 to 15 years has established the organic dysphonia in 27.4% of patients. Of the organic diseases of larynx there were edema, hypertrophy, nodules of vocal folds and chronic laryngitis whose frequency is directly dependent on duration and severity of the defect, age of patient and the timing of recovery of velopharyngeal ring. Pathology of the larynx gradually disappears with the growth of the patient after plastic reconstruction of oronasal defect.

  20. Controversies in the Management of Patients with Cleft Lip and Palate.

    Science.gov (United States)

    Rodman, Regina E; Tatum, Sherard

    2016-08-01

    Cleft lip and palate is one of the most common congenital anomalies. For many years, surgeons have been attempting to reduce the severity of the deformity before the surgical repair to achieve a better outcome. The nasoalveolar molding technique uses acrylic nasal stents attached to the vestibular shield of an oral molding plate to mold the nasal alar cartilages into a more normal form and position during the presurgical period. Proponents of nasoalveolar molding claim several benefits, including improved aesthetic outcome, reduced overall costs, and a psychosocial benefit to the family. Research on these outcomes is not conclusive. PMID:27400840

  1. A longitudinal group study of speech development in Danish children born with and without cleft lip and palate.

    Science.gov (United States)

    Hutters, B; Bau, A; Brøndsted, K

    2001-01-01

    The present study focuses on contoid vocalization by Danish 1-year-old unrepaired toddlers born with cleft lip and palate, and how they differ from their non-cleft peers. Furthermore, we focus on how the same children master Danish consonants at 3 years of age compared with their non-cleft peers in terms of their ability to produce consonants in accordance with adult target. Also, with the 3 year olds, we look at cleft speech characteristics as well as developmental speech characteristics found in both groups of children. Based on phonetic transcription, it was found that Danish unoperated cleft palate children at 1 year of age produced few types of contoids and preferably contoids that did not require closure of the velopharyngeal port in their prespeech. In addition, the data suggest that consonants produced by cleft children who are treated with one-stage surgery after speech onset, at 3 years of age differ from speech produced by non-cleft children, not only as regards cleft speech characteristics, but also as regards developmental speech characteristics.

  2. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R;

    2016-01-01

    Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental fac...

  3. Aesthetic Evaluation of the Nasolabial Region in Children with Unilateral Cleft Lip and Palate Comparing Expert versus Nonexperience Health Professionals

    Directory of Open Access Journals (Sweden)

    Tatiana Saito Paiva

    2014-01-01

    Full Text Available Esthetic evaluation of cleft lip and palate rehabilitation outcomes may assist in the determination of new surgical interventions and aid in reevaluation of treatment protocols. Our objective was to compare esthetics assessments of the nasolabial region in children with a unilateral cleft lip and palate between healthcare professionals who were experienced in the treatment of cleft lip and palate and those who were inexperienced. The study group included 55 patients between 6 and 12 years of age who had already undergone primary reconstructive surgery for unilateral cleft lip. Standardized digital photographs were obtained, and the esthetic features of the nose, lip, and nasolabial region were evaluated. We used only cropped photographic images in the assessments of healthcare professionals with and without experience in cleft lip and palate. Interrater analysis revealed highly reliable assessments made by both the experienced and inexperienced professionals. There was no statistically significant difference in the esthetic attractiveness of the lip and nose between the experienced and inexperienced professionals. Compared with the inexperienced professionals, the experienced professional evaluators showed higher satisfaction with the esthetic appearance of the nasolabial region; however, no difference was observed in the analysis of the lip or nose alone.

  4. ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population

    Institute of Scientific and Technical Information of China (English)

    WANG Hong; Vincent Yeow; Samuel S. Chong; Felicia SH Cheah; Ethylin Wang Jabs; Alan F. Scott; Terfi H. Beaty; Jacqueline B. Hetmanski; Ingo Ruczinski; Kung Yee Liang; M. Daniele Fallin; Richard J. Redett; Gerald V. Raymond; Yah-Huei Wu Chou; Philip Kuo-Ting Chen

    2012-01-01

    Background The receptor tyrosine kinase-like orphan receptor 2 (ROR2) gene has been recently shown to play important roles in palatal development in animal models and resides in the chromosomal region linked to non syndromic cleft lip with or without cleft palate in humans.The aim of this study was to investigate the possible association between ROR2 gene and non-syndromic oral clefts.Methods Here we tested 38 eligible single-nucleotide polymorphisms (SNPs) in ROR2 gene in 297 non-syndromic cleft lip with or without cleft palate and in 82 non-syndromic cleft palate case parent trios recruited from Asia and Maryland.Family Based Association Test was used to test for deviation from Mendelian inheritance.Plink software was used to test potential parent of origin effect.Possible maternally mediated in utero effects were assessed using the TRlad Multi-Marker approach under an assumption of mating symmetry in the population.Results Significant evidence of linkage and association was shown for 3 SNPs (rs7858435,rs10820914 and rs3905385) among 57 Asian non-syndromic cleft palate trios in Family Based Association Tests.P values for these 3 SNPs equaled to 0.000068,0.000115 and 0.000464 respectively which were all less than the significance level (0.05/38=0.0013) adjusted by strict Bonferroni correction.Relevant odds ratios for the risk allele were 3.42 (1.80-6.50),3.45 (1.75-6.67) and 2.94 (1.56-5.56),respectively.Statistical evidence of linkage and association was not shown for study groups other than non-syndromic cleft palate.Neither evidence for parent-of-origin nor maternal genotypic effect was shown for any of the ROR2 markers in our analysis for all study groups.Conclusion Our results provided evidence of linkage and association between the ROR2 gene and a gene controlling risk to non-syndromic cleft palate.

  5. A restricted test of single word intelligibility in 3-year-old children with and without cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Poulsen, Mads

    2012-01-01

    between 15 and 24 years of age who typed the word they heard. Results: The findings of this study indicated that naïve listeners correctly identified a larger percentage of words in the control children followed by children in the HPR group. Children in the HPU group were more difficult for the naïve...... listeners to understand. The error of retraction/backing of alveolar target consonants to velar place of articulation occurred frequently and most often in the HPU group and was found to have a negative effect on intelligibility. Key words: intelligibility, cleft palate, naïve listeners, error types, single......Abstract Objective: In a previous study, children with cleft palate with hard palate closure at 12 months of age showed more typical phonological development than children with an unrepaired hard palate at 36 months of age. This finding was based on narrow transcription of word initial target...

  6. An Analysis of the Frame-Content Theory in Babble of 9-Month-Old Babies with Cleft Lip and Palate

    Science.gov (United States)

    Stout, Gwendolyn; Hardin-Jones, Mary; Chapman, Kathy L.

    2011-01-01

    The aim of this study was to examine the consonant-vowel co-occurrence patterns predicted by the Frame-Content theory in 16 nine-month-old babies with unrepaired cleft palate ([plus or minus]cleft lip) and 16 age-matched non-cleft babies. Babble from these babies was phonetically transcribed and grouped according to the intrasyllabic predictions…

  7. Cone-Beam Computed Tomography Assessment of Lower Facial Asymmetry in Unilateral Cleft Lip and Palate and Non-Cleft Patients with Class III Skeletal Relationship.

    Directory of Open Access Journals (Sweden)

    Yifan Lin

    Full Text Available To evaluate, using cone-beam computed tomography (CBCT, both the condylar-fossa relationships and the mandibular and condylar asymmetries between unilateral cleft lip and palate (UCLP patients and non-cleft patients with class III skeletal relationship, and to investigate the factors of asymmetry contributing to chin deviation.The UCLP and non-cleft groups consisted of 30 and 40 subjects, respectively, in mixed dentition with class III skeletal relationships. Condylar-fossa relationships and the dimensional and positional asymmetries of the condyles and mandibles were examined using CBCT. Intra-group differences were compared between two sides in both groups using a paired t-test. Furthermore, correlations between each measurement and chin deviation were assessed.It was observed that 90% of UCLP and 67.5% of non-cleft subjects had both condyles centered, and no significant asymmetry was found. The axial angle and the condylar center distances to the midsagittal plane were significantly greater on the cleft side than on the non-cleft side (P=0.001 and P=0.028, respectively and were positively correlated with chin deviation in the UCLP group. Except for a larger gonial angle on the cleft side, the two groups presented with consistent asymmetries showing shorter mandibular bodies and total mandibular lengths on the cleft (deviated side. The average chin deviation was 1.63 mm to the cleft side, and the average absolute chin deviation was significantly greater in the UCLP group than in the non-cleft group (P=0.037.Compared with non-cleft subjects with similar class III skeletal relationships, the subjects with UCLP showed more severe lower facial asymmetry. The subjects with UCLP presented with more asymmetrical positions and rotations of the condyles on axial slices, which were positively correlated with chin deviation.

  8. Comparison of risk indicators of dental caries in children with and without cleft lip and palate deformities

    Directory of Open Access Journals (Sweden)

    Rubina Shashni

    2015-01-01

    Full Text Available Objective: To test the hypothesis that there are no differences in various risk factors of dental caries among children with cleft lip and palate when compared to non-cleft high caries risk and non-cleft caries free children. Design: Seventy-three children in the age range of 4-9 years comprised three groups; Group-I (n = 23, children with cleft lip and palate, Group-II (n = 25, non-cleft high caries risk children and Group-III (n = 25, non-cleft caries free children. Various risk factors for dental caries like type of oral hygiene practice, sugar exposures/day, developmental defects of enamel, caries activity, salivary streptococci mutans levels and lactobacilli levels were evaluated and compared among the three groups of children. Results: The mean deft score among Group-II children was significantly more (P < 0.01 as compared to the Group-I children. The mean deft + DMFT score among Group-I and Group-II children was comparable (P = 0.149. Developmental enamel defects were more among Group-I children as compared to Group-II and Group-III children (P < 0.01. Hypoplasia of the maxillary anterior teeth was more common among Group-I children as compared to Group-II (P < 0.05 and Group-III children (P < 0.001. The association between hypoplastic teeth and dental caries was significant (P < 0.05. The salivary acidogenic potential as evaluated by Snyder test was comparable among Group-I and Group-II children. The salivary streptococcus mutans levels in Group-I and Group-II children were higher when compared to lactobacillus counts. Conclusion: The risk factors of dental caries among children with cleft lip and palate were more as compared to non-cleft high caries risk and non-cleft caries free children.

  9. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome with Tetralogy of Fallot: a very rare combination

    Directory of Open Access Journals (Sweden)

    Deepak eSharma

    2015-06-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births. It is known with various names which includes split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis.

  10. Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

    Science.gov (United States)

    Sharma, Deepak; Kumar, Chetan; Bhalerao, Sanjay; Pandita, Aakash; Shastri, Sweta; Sharma, Pradeep

    2015-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis. PMID:26137453

  11. Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

    OpenAIRE

    Sharma, Deepak; Kumar, Chetan; Bhalerao, Sanjay; Pandita, Aakash; Shastri, Sweta; Sharma, Pradeep

    2015-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysi...

  12. Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.

    Science.gov (United States)

    Sharma, Deepak; Kumar, Chetan; Bhalerao, Sanjay; Pandita, Aakash; Shastri, Sweta; Sharma, Pradeep

    2015-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand-split foot-ectodermal dysplasia-cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis. PMID:26137453

  13. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome) with Tetralogy of Fallot: a very rare combination

    OpenAIRE

    Deepak eSharma; Chetan eKumar; Sanjay eBhalerao; Aakash ePandita; Sweta eShastri; Pradeep eSharma

    2015-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births. It is known with various names which includes split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis...

  14. Auditory complaints and audiologic assessment in children with surgically repaired cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Cerom, Jaqueline Lourenço

    2013-04-01

    Full Text Available Introduction: At the initial consultation, the speech-language pathologist and audiologist may consider possible diagnostic hypotheses based on the child's history and the parents' complaint. Aim: To investigate the association of hearing complaints with the findings obtained in the conventional audiologic assessment in children with cleft lip and palate. Retrospective study. Methods: We analyzed medical charts of 1000 patients with cleft lip and palate who underwent surgical repair between 1988 and 1995 at a mean age of 6 years 8 months. We excluded charts with records of inconsistent audiological responses and charts with missing data for any of the audiologic evaluations considered. Thus, the sample consisted of 393 records. Results: Two hundred thirty-nine patients presented hearing loss in one or both ears, but only 3.8% reported hearing complaints. The most frequent were otorrhea followed by otalgia. There was no statistical significance between the complaint and gender (p = 0.26 nor between the complaint and hearing loss (p = 0.83. Conclusion: This study showed no association between the hearing complaint and the conventional audiologic assessment.

  15. Prosthodontic Rehabilitation Alternative of Patients with Cleft Lip and Palate (CLP: Two Cases Report

    Directory of Open Access Journals (Sweden)

    Emrah Ayna

    2009-01-01

    Full Text Available Although patients with cleft lip and palate (CLP are not seen regularly in general dental practice, this is a frequent congenital anomaly; approximately one in every 800 live births results in a CLP. The cause of CLP is unknown, but possible causes are malnutrition and irradiation during pregnancy, psychological stress, teratogenic agents, infectious agents (viruses, and inheritance. Most clefts are likely caused by multiple genetic and nongenetic factors. Prosthetic reconstruction of the anterior maxilla is important for these patients. This paper describes the prosthetic rehabilitation of two patients with CLP, 19-year-old and 21-year-old women, both with surgically treated CLP. In both, an examination revealed a residual palatal defect of 2×3 mm and missing maxillary lateral incisors. The 19-year-old was treated with a fiber-reinforced composite resin-bonded fixed partial denture. The 21-year-old was treated with a removable partial denture with an extracoronal attachment system. The prosthetic rehabilitation of the two patients with CLP was evaluated clinically. In both, well-planned prosthetic, periodontal, and surgical therapy resulted in satisfactory function and esthetics, alleviating their deformities. With education and appropriate recall, the patients should be able to maintain their oral health.

  16. Facial dimensions of Malay children with repaired unilateral cleft lip and palate: a three dimensional analysis.

    Science.gov (United States)

    Zreaqat, M; Hassan, R; Halim, A S

    2012-06-01

    This comparative cross-sectional study assessed the facial surface dimensions of a group of Malay children with unilateral cleft lip and palate (UCLP) and compared them with a control group. 30 Malay children with UCLP aged 8-10 years and 30 unaffected age-matched children were voluntarily recruited from the Orthodontic Specialist Clinic in Hospital Universiti Sains Malaysia (HUSM). For the cleft group, lip and palate were repaired and assessment was performed prior to alveolar bone grafting and orthodontic treatment. The investigation was carried out using 3D digital stereophotogrammetry. 23 variables and two ratios were compared three-dimensionally between both groups. Statistically significant dimensional differences (P<0.05) were found between the UCLP Malay group and the control group mainly in the nasolabial region. These include increased alar base and alar base root width, shorter upper lip length, and increased nose base/mouth width ratio in the UCLP group. There were significant differences between the facial surface morphology of UCLP Malay children and control subjects. Particular surgical procedures performed during primary surgeries may contribute to these differences and negatively affect the surgical outcome. PMID:22424709

  17. Optimization of dental status improves long-term outcome after alveolar bone grafting in unilateral cleft lip and palate.

    Science.gov (United States)

    Jabbari, Fatima; Skoog, Valdemar; Reiser, Eicka; Hakelius, Malin; Nowinski, Daniel

    2015-03-01

    Objective : To evaluate the importance of dental status for long-term outcome after alveolar bone grafting in patients with unilateral cleft lip and palate. Design : Retrospective longitudinal study. Setting : Cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. Patients : A total of 67 consecutive patients with unilateral complete cleft lip and palate. Interventions : Secondary alveolar bone grafting, prior to the eruption of the permanent canine, was performed at the average age of 10.0 years (range, 8.5 to 12.0 years). Main Outcome Measures : Alveolar bone height was evaluated with the modified Bergland index at 1 and 10 years after surgery. Results : Of the patients, 97% had modified Bergland index grade I and the remaining 3% had modified Bergland index grade II at 1 year after surgery. At 10 years' follow-up, 43% showed modified Bergland index grade I; 55%, modified Bergland index grade II; and 2% (one patient), modified Bergland index grade III. The degree of dental anomalies in the cleft area, such as enamel hypoplasia, incisor rotation, incisor inclination, canine inclination, and oral hygiene registered preoperatively, all correlated negatively to the modified Bergland index at 10 years after surgery. Enamel hypoplasia (ρ = 0.70195, P < .0001), followed by canine inclination (ρ = 0.55429, P < .0001), showed the strongest correlation to reduced bone height in the cleft area. Conclusions : In patients with unilateral cleft lip and palate, excellent results from secondary alveolar bone grafting in terms of bone height in the alveolar cleft tend to decrease with time. This seems to be correlated with factors that might to some extent be treated preoperatively through adequate planning and execution of the orthodontic treatment. PMID:24568558

  18. [Evaluation of the timing of orthodontic arch expansion and graft in cleft lip and palate].

    Science.gov (United States)

    Chang, Le; Wang, Yingnan; Liu, Hongyan

    2016-04-01

    Maxillary transverse growth is inhibited by congenital cleft, early surgical scar strain, and oppression of lipmuscles in patients with cleft lip and palate. Clinical manifestations have shown severely constricted maxilla, insufficientmaxillary width, mismatch of upper and lower dental arches, and crossbite. Alveolar bone graft and arch expansion can effectively correct the deficiency in maxillary width. This paper discusses the timing and success rate of alveolar bone graft, as wellas the relationship between alveolar bone graft and arch expansion. Secondary alveolar bone graft is optimally performed beforepermanent canine eruption, especially when the teeth have formed between half and three quarters of their roots. Rapid maxillaryexpansion prior to alveolar bone graft is beneficial because this process increases the gap of the cleft, expands bone graft, andreduces the difficulty. However, the stability of this process remains controversial. Small-scale studies have reported that rapidmaxillary expansion after alveolar bone graft can open the midpalatal suture without bone graft loss. Slow maxillary expansioncan provide continuous light forces to reconstruct the bone. However, these studies are coordinated with fixed orthodontictreatment. Further research is necessary to determine the effects of maxillary expansion on long-term stability of teeth. PMID:27337934

  19. Three-dimensional facial analysis of Chinese children with repaired unilateral cleft lip and palate.

    Science.gov (United States)

    Othman, Siti Adibah; Aidil Koay, Noor Airin

    2016-01-01

    We analyzed the facial features of Chinese children with repaired unilateral cleft lip and palate (UCLP) and compared them with a normal control group using a three-dimensional (3D) stereophotogrammetry camera. This cross-sectional study examined 3D measurements of the facial surfaces of 20 Chinese children with repaired UCLP and 40 unaffected Chinese children aged 7 to 12 years old, which were captured using the VECTRA 3D five-pod photosystem and analyzed using Mirror software. Twenty-five variables and two ratios were compared between both groups using independent t-test. Intra- and inter-observer reliability was determined using ten randomly selected images and analyzed using intra-class correlation coefficient test (ICC). The level of significance was set at p < 0.0018. Intra- and inter-observers' reliability was considered fair to excellent with an ICC value ranging from 0.54 to 0.99. Statistically significant differences (p < 0.0018) were found mainly in the nasolabial region. The cleft group exhibited wider alar base root width, flattened nose and broader nostril floor width on the cleft side. They tended to have shorter upper lip length and thinner upper vermillion thickness. Faces of Chinese children with repaired UCLP displayed meaningful differences when compared to the normal group especially in the nasolabial regions. PMID:27507713

  20. Three-dimensional facial analysis of Chinese children with repaired unilateral cleft lip and palate

    Science.gov (United States)

    Othman, Siti Adibah; Aidil Koay, Noor Airin

    2016-01-01

    We analyzed the facial features of Chinese children with repaired unilateral cleft lip and palate (UCLP) and compared them with a normal control group using a three-dimensional (3D) stereophotogrammetry camera. This cross-sectional study examined 3D measurements of the facial surfaces of 20 Chinese children with repaired UCLP and 40 unaffected Chinese children aged 7 to 12 years old, which were captured using the VECTRA 3D five-pod photosystem and analyzed using Mirror software. Twenty-five variables and two ratios were compared between both groups using independent t-test. Intra- and inter-observer reliability was determined using ten randomly selected images and analyzed using intra-class correlation coefficient test (ICC). The level of significance was set at p < 0.0018. Intra- and inter-observers’ reliability was considered fair to excellent with an ICC value ranging from 0.54 to 0.99. Statistically significant differences (p < 0.0018) were found mainly in the nasolabial region. The cleft group exhibited wider alar base root width, flattened nose and broader nostril floor width on the cleft side. They tended to have shorter upper lip length and thinner upper vermillion thickness. Faces of Chinese children with repaired UCLP displayed meaningful differences when compared to the normal group especially in the nasolabial regions. PMID:27507713

  1. 完全性唇腭裂婴儿期手术对上颌骨发育的影响%The effect of early cleft palate repair on maxillary growth in infantile complete cleft lip and palate children

    Institute of Scientific and Technical Information of China (English)

    赵瑞红

    2011-01-01

    Objective: To obsewe the effect of infantile cleft palate repair on maxillary growth in children with complete cleft lip and palate. Methods: 18 children with complete cleft lip and palate were divided into two groups according to whether cleft palate repair was performed or not in infancy. In the one-stage repair group, 10 children received cleft lip and palate repair in infancy, the mean age was (10.15±0.76) years in follow-up. In the cleft lip repair group (10 patients),cleft lip repair was performed without cleft palate surgery in infancy, the mean age of this group was (10.25±0.75) years in follow-up. 20 cases of noncleft children (ages lO) were normal control group. The X-ray cephalometry and dentognathic models of three groups were obtained and compared. Results: The data analysis of cephalometry and dental cast showed that the difference between the two groups had no obvious significance (P>0.05); but compared with the normal group, the cleft lip and palate patients all had the growth inhibition (P<0.05). Conclusion: The cleft palate repair is not the reason of the difference existing;. Earlier cleft palate operation is favorable to functional recovery for infants.%目的:观察婴儿早期行唇腭裂手术对完全性唇腭裂患儿上颌骨发育的近期影响.方法:18例完全性唇腭裂患儿在婴儿期接受唇腭裂手术作为唇腭裂修复组,随访时平均年龄(10.15±0.76)岁;10例未行唇腭裂手术的单纯唇裂患儿为单纯唇腭裂组,随访时平均年龄(10.25±0.75)岁;另20例正常的10岁龄学童作为正常对照组.三组分别取头颅侧位片与上牙颌模型,进行测量分析.结果:两组唇腭裂患儿之间的上颌骨发育无明显差异(P>0.05),与正常对照组比较,均有生长抑制(P<0.05).结论:早期对完全性唇腭裂患儿行唇裂修复术对上颌骨发育的影响不大,还可以使患者获得正常的语言功能.

  2. A comparative study of craniofacial morphology of parents with and without cleft lip and/or palate children

    International Nuclear Information System (INIS)

    The purpose of this study was to determine whether any difference existed in craniofacial morphology between parents of children with cleft lip and/or palate and parents of children without cleft lip and/or palate. Thirty three measurements of the various regions of cranium and face were obtained from lateral cephalometric radiograms in parents of 28 children with cleft lip and palate, 18 children with cleft lip, and 22 children with cleft palate. There were 28 couples and 40 single parents in this sample. There were 92 individuals including 41 males and 51 females. The measurements were compared with those in control subjects, including 40 adult males and 40 adult females, who had no history of craniofacial abnormalities. The total sample was compared for the sex independently. The obtained results were as follows. 1. In the cranium, both parents of cleft children had significantly shorter posterior cranial base length (S-Ba). 2. In the upper face, a significantly shorter anteroposterior length of maxilla (A'-Ptm'), particularly in the anterior region (A'-K'), anterior facial depth (A-SBaL), posterior facial height (Ptm'-SNL) and relation of subnasale to the cranial base (BaNSn) were noted in fathers of cleft children. But, all measurements were not found to be significantly different between experimental group and control group in all mothers. 3. In the lower face, both parents of cleft children showed a significantly greater Y axis angle (NSGn) and ramal plane angle (SNL-RP) in faters of cleft children. Thus both parents showed a posteriorly rotation of mandible. The thickness of the lower lip (B-B) was significantly thicker in fathers of cleft children. 4. In the facial profile, a significantly shorter posterior facial height (S-Go) and greater angle of soft tissue facial convexity (BaNPog) were noted in the fathers of cleft children. But, all measurements were not found to be significantly different between experimental group and control group in all mothers.

  3. 三维超声诊断胎儿唇腭裂的临床意义%Three-dimensional Extended Imaging in Diagnosing Fetal Cleft Lip and/or Cleft Palate

    Institute of Scientific and Technical Information of China (English)

    李彦

    2014-01-01

    Objective To determine the value or three-dimensional extended imaging in prenatal diagnosis of cleft lip and/or cleft palate and to explore the effective technique for improving the diagnostic accuracy of fetal cleft lip and/or palate cleft.Methods The 3D volume data of lips and palates of normal and fetruses with a cleft lip and/or cleft palate on 3D Results In the10 normal fetuses,the displayed rate of the lip and alveolar ridge was 100%and of hard pal-ate.Conclusions This study confirmed the value of 3D in antenatal diagnosis of cleft lip ,especially hard palate with ort cleft palate,However,it still remains difficult to diagnose the cleft soft palate and partial hard palate without cleft alveolus by now.%目的:探讨应用三维超声诊断胎儿唇腭裂的临床意义。方法应用三维扩展成像对唇腭裂胎儿和正常胎儿唇腭部位的三维容积数据进行分析。结果10例正常胎儿唇部显示率100%,硬腭显示率9%(9/10),有一例单侧唇裂合并腭裂仅诊断了唇裂而漏诊了腭裂,诊断率(9/10)。结论三维超声对胎儿唇腭裂,尤其是唇裂合并牙槽骨及硬腭裂的诊断具有较大的临床意义。

  4. Perception of parents about the auditory attention skills of his kid with cleft lip and palate: retrospective study

    Directory of Open Access Journals (Sweden)

    Mondelli, Maria Fernanda Capoani Garcia

    2012-01-01

    Full Text Available Introduction: To process and decode the acoustic stimulation are necessary cognitive and neurophysiological mechanisms. The hearing stimulation is influenced by cognitive factor from the highest levels, such as the memory, attention and learning. The sensory deprivation caused by hearing loss from the conductive type, frequently in population with cleft lip and palate, can affect many cognitive functions - among them the attention, besides harm the school performance, linguistic and interpersonal. Objective: Verify the perception of the parents of children with cleft lip and palate about the hearing attention of their kids. Method: Retrospective study of infants with any type of cleft lip and palate, without any genetic syndrome associate which parents answered a relevant questionnaire about the auditory attention skills. Results: 44 are from the male kind and 26 from the female kind, 35,71% of the answers were affirmative for the hearing loss and 71,43% to otologic infections. Conclusion: Most of the interviewed parents pointed at least one of the behaviors related to attention contained in the questionnaire, indicating that the presence of cleft lip and palate can be related to difficulties in hearing attention.

  5. The effects of infant orthopaedics on speech and language development in children with unilateral cleft lip and palate

    NARCIS (Netherlands)

    Konst, Emmy Maria

    2002-01-01

    This thesis describes an investigation into the effects of infant orthopaedics (IO) on speech and language development in children with unilateral cleft lip and palate (UCLP). The study was performed within the framework of the three-centre prospective randomised clinical trial 'Dutchcleft'. Two gro

  6. Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?

    OpenAIRE

    Zlotogora, J; Zilberman, Y.; Tenenbaum, A; Wexler, M R

    1987-01-01

    Two sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes are reported. The older child also has mental retardation and pili torti. This syndrome is most probably inherited as an autosomal recessive disorder.

  7. Language skills of young children with unilateral cleft lip and palate following infant orthopedics: a randomized clinical trial.

    NARCIS (Netherlands)

    Konst, E.M.; Rietveld, T.; Peters, H.F.M.; Kuijpers-Jagtman, A.M.

    2003-01-01

    OBJECTIVE: To investigate the effects of infant orthopedics (IO) on the language skills of children with complete unilateral cleft lip and palate (UCLP). DESIGN: In a prospective randomized clinical trial (Dutchcleft), two groups of children with complete UCLP were followed up longitudinally: one gr

  8. A longitudinal three-center study of dental arch relationship in patients with bilateral cleft lip and palate.

    NARCIS (Netherlands)

    Bartzela, T.N.; Katsaros, C.; Shaw, W.C.; Ronning, E.; Rizell, S.; Bronkhorst, E.M.; Okada, T.O.; S L Pinheiro, F.H. de; Dominguez-Gonzalez, S.; Hagberg, C.; Semb, G.; Kuijpers-Jagtman, A.M.

    2010-01-01

    OBJECTIVE: To compare and evaluate longitudinally the dental arch relationships from 4.5 to 13.5 years of age with the Bauru-BCLP Yardstick in a large sample of patients with bilateral cleft lip and palate (BCLP). DESIGN: Retrospective longitudinal intercenter outcome study. PATIENTS: Dental casts o

  9. Longitudinal Comparison of Early Speech and Language Milestones in Children with Cleft Palate: A Comparison of US and Slovak Children

    Science.gov (United States)

    Scherer, Nancy J.; Oravkinova, Zuzana; McBee, Matthew T.

    2013-01-01

    The purpose of this study was to compare early speech and language development of children with and without cleft lip and/or palate (CLP) in the US and Slovakia from 6 to 24 months of age. Thirty-two children from the US (eight with CLP and eight noncleft) and Slovakia (eight with CLP and eight noncleft) participated in this study. The children…

  10. Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome

    Science.gov (United States)

    Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC), is a rare genetic disorder due to mutations in the TP63 gene. In the present study, we characterized the pattern of growth and body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 18) affected ...

  11. Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review.

    Science.gov (United States)

    Felipe, Anthony F; Abazari, Azin; Hammersmith, Kristin M; Rapuano, Christopher J; Nagra, Parveen K; Peiro, Baltasar Moratal

    2012-10-01

    The aim of this study is to describe the corneal changes in three unrelated patients with ectrodactyly-ectodermal dysplasia-cleft lip and palate (EEC) syndrome and review the literature on the possible etiology and clinical presentation of similar cases. Case 1 is an 18-year-old female with cleft lip and palate, syndactyly, and bilateral corneal pannus superiorly and inferiorly. She was initially diagnosed and treated as herpes simplex virus keratitis. Case 2 is a 3-year-old female born with cleft lip and palate, absent radial digits in both hands, and bilateral lacrimal stenosis. She developed progressive stromal scarring and neovascularization in both eyes. Her cornea perforated after developing infectious ulceration. Case 3 is a 49-year-old male with cleft palate, claw-hand deformities, absent meibomian glands and lacrimal duct, right ankyloblepharon, and a superior wedge-shaped opacity in the left cornea. The clinical findings demonstrated the different spectrum of keratopathy seen in patients with EEC. All patients were treated medically and without any surgical intervention. Limbal stem cell deficiency (LSCD) is presumed to be the cause in all three cases. Corneal changes in EEC can have variable presentation. LSCD seems to be the etiology of such keratopathy. Recurrent infection from lacrimal drainage obstruction and tear film instability are other risk factors for disease severity and progression. PMID:22618129

  12. Experience of teenagers born with cleft lip and/or palate and interventions of the health nurse.

    Science.gov (United States)

    Chapados, C

    2000-01-01

    The objective of this study was to describe and understand the experiences of teenagers with cleft lip and/or palate. The human ecology approach of Bronfenbrenner (1979) was chosen as a basis for this study. From this perspective, the living environment of teenagers with cleft lip and/or palate was considered, and as such, qualitative research from an ethnographic standpoint was conducted. The data were collected by semistructured interviews and recorded on magnetic tape. Ten teenagers, between 15 and 17 years of age, were chosen and consulted while undergoing therapeutic treatment and surgery in a cleft lip and/or palate clinic. The results of this study indicate that teenagers born with this congenital malformation experience various physical, functional, or interactional problems throughout their development. To improve this situation, nursing care has been developed to enable the nurse to act within the multidisciplinary team treating cleft lip and/or palate cases, thereby allowing the teenager to develop in an environment that offers a better quality of life.

  13. Photographs of dental casts or digital models: rating dental arch relationships in bilateral cleft lip and palate.

    NARCIS (Netherlands)

    Leenarts, C.M.; Bartzela, T.N.; Bronkhorst, E.M.; Semb, G.; Shaw, W.C.; Katsaros, C.; Kuijpers-Jagtman, A.M.

    2012-01-01

    Yardsticks have been developed to measure dental arch relations in cleft lip and palate (CLP) patients as diagnostic proxies for the underlying skeletal relationship. Travelling with plaster casts to compare results between CLP centres is inefficient so the aim of this study was to investigate the r

  14. Self-esteem, coping styles, and quality of life in polish adolescents and young adults with unilateral cleft lip and palate.

    Science.gov (United States)

    Pisula, Ewa; Lukowska, Ewa; Fudalej, Piotr S

    2014-05-01

    Objectives : To evaluate self-esteem, coping styles, and health-related quality of life and their relationships in Polish adolescents and young adults with unilateral complete cleft lip and palate and related sex differences. Design and Participants : Self-report questionnaires measuring self-esteem (Multidimensional Self-Esteem Inventory), coping styles (Coping Inventory for Stressful Situations), and health-related quality of life (WHOQOL-BREF) were completed by 48 participants with cleft lip and palate (age, 16 to 23 years; 31 males, 17 females) and 48 controls without cleft lip and palate (age, 16 to 23 years; 28 males, 20 females) matched for age, place of residence, and socioeconomic status. Results : Regarding self-esteem, individuals with cleft lip and palate scored higher on body functioning (P self-enhancement (P Self-control showed an interaction effect: Females with cleft lip and palate scored higher than controls, but males did not differ between groups (P self-esteem and coping styles, and quality of life (P adolescents and young adults with and without cleft lip and palate differed little in terms of psychological adjustment measures. The higher scores in defensive self-enhancement of individuals with cleft lip and palate suggest the need for instruments measuring social approval in psychosocial adjustment research involving this group.

  15. Prenatal diagnosis of isolate fetal cleft palate by two-dimensional ultrasonography%单纯腭裂的产前二维超声诊断

    Institute of Scientific and Technical Information of China (English)

    张忠路; 王聪; 安霞; 王少春; 陈东风; 崔雪梅

    2015-01-01

    Objective To discussion the value of palate standard section in prenatal ultrasound diagnosis of isolate cleft palate,and summarize the two-dimensional ultrasound characteristics of isolate cleft palate.Methods Two-dimensional ultrasound was performed in 1 8 073 fetuses during 1 8 to 40 gestational weeks of pregnancy.Fetal palate structure were scanned through the oral cleft,the cheek,the neck part,and the standard sagittal section,transverse section and coronal section were obtained to diagnosis cleft palate. The results were compared with labour or postpartum findings.Results In 1 8 073 cases,20 cases of isolate cleft palate,1 9 cases were diagnosed as fetal isolate cleft palate by prenatal ultrasonography,of which 1 8 cases were correctly diagnosed,1 case was misdiagnosed,1 case was missed diagnosed.The sensitivity, specificity,accuracy of prenatal ultrasound detection were 95%,100%,95%,respectively.The ultrasonic characteristics of isolate cleft palate:lack of crack were located in the midline,soft cleft palate was shown as the midline of soft palate interrupted,short of crack was“><”、“‖”、“/\\”形,硬腭裂表现为硬腭正中回声中断,缺裂呈倒“U”形或倒“V”形。结论腭的标准切面在单纯腭裂的产前超声诊断中具有较高的应用价值,可评估裂隙形态、长度、宽度、走向、累及范围等。

  16. Clinical analysis of 302 cases of cleft palate%腭裂患者302例临床资料分析

    Institute of Scientific and Technical Information of China (English)

    刘瑞红; 李新明

    2011-01-01

    目的 通过回顾性调查,了解河南省先天性腭裂的患病情况与特点,从而规范河南省唇腭裂患者的综合序列治疗.方法 收集2005年8月至2009年12月期间在郑州大学第一附属医院口腔科进行腭裂手术及腭裂术后二期修复的302例腭裂患者的临床病历资料,并将所得数据进行统计分析.结果 在本组病例中,男性患者172例,女性患者130例,年龄1.5~41岁,中位年龄3.6岁,男女比例约为1.32∶1; 单纯腭裂的发生男女差异无统计学意义,而唇腭裂的发生男女性别差异有统计学意义; 单纯腭裂和腭裂伴有唇裂的发生率差异有统计学意义;在腭裂的构成比中,主要以不完全腭裂为主,占70.86%,完全腭裂占19.87%,腭裂术后穿孔占6.29%.结论 单纯腭裂的发生男女无明显性别差异;而唇腭裂的发生男女性别差异有统计学意义,男性约是女性的3倍;单纯腭裂的发病率明显高于腭裂伴有唇裂的发病率;在腭裂的构成比中,主要以不完全腭裂为主;腭瘘仍是目前腭裂术后最常见的并发症.%Objective To investigate the characteristics and features of cleft palate and improve comprehensive and sequential therapy of cleft lip and palate (CLP) in Henan province by a retrospective study. Methods A total of 302 CLP were included in the retrospective study, who underwent primary and secondary cleft palate repair during August 2005 to December 2009. Results Three hundred and two patients (172 males,130 females,age ranged from 1.5 years to 41 years with a median age of 3.6 years)were included in the study. There was no significant gender difference in cleft palate, but in cleft lip and palate. And there was significant rate difference between cleft palate and cleft lip and palate. According to cleft types, 214 patients (70.86%) were incomplete cleft palate, 60 patients(19.87%) were complete cleft palate, 12 patients(3.97%) were cleft soft palate, 19 patients(6.29%) were palate fistula

  17. Self-perceptions of romantic appeal in adolescents with a cleft lip and/or palate.

    Science.gov (United States)

    Feragen, Kristin Billaud; Stock, Nicola Marie; Sharratt, Nicholas David; Kvalem, Ingela Lundin

    2016-09-01

    During adolescence, romantic relationships are a key developmental milestone. Coupled with the increasing salience of appearance and social acceptance, adolescents with an appearance-altering condition may feel particularly vulnerable when it comes to romantic relationships. This study aimed to explore the prevalence of romantic experiences among adolescents with a cleft lip and/or palate (CL/P), and to investigate how these experiences could be related to depressive symptoms and global self-worth. The study included 661 Norwegian adolescents with CL/P, who were compared to a large national sample. The prevalence of romantic relationships was lower among adolescents with CL/P compared to the reference group, although the overall impact on depressive symptoms and global self-worth appeared to be low. This study is one of few to explore the impact of a congenital visible condition on experiences of romantic relationships and provides preliminary insight into a significant, yet complex topic. PMID:27459395

  18. Usefulness of videofluoroscopic swallow study in treacher collins syndrome with cleft palate: a case report.

    Science.gov (United States)

    Hwang, Do-Won; Jung, Kang-Jae; Kim, Seung-Yeon; Kim, Jae-Hyung

    2014-10-01

    A 3-year-old girl had multiple anomalies compatible with Treacher Collins Syndrome (TCS). From the neonatal period, sucking was poor, making tube feeding necessary. Excessive saliva was retained in the oral cavity. Nasal leakage caused by the cleft palate was observed when she spoke. The initial videofluoroscopic swallow study (VFSS) showed a poor posterior bolus transit and nasopharyngeal regurgitation. A delayed swallow reflex and bolus stasis at the vallecular and pyriform sinuses were recognized. Based on the VFSS findings, the patient underwent palatoplasty at 20 months of age. At approximately 23 months of age, a follow-up VFSS was performed; poor posterior bolus transit, nasopharyngeal regurgitation, and delayed swallow reflex were not observed. Finally, the patient was able to eat ground or chopped foods and solid foods orally. We deem VFSS to be helpful in deciding the appropriate management of dysphagia in TCS.

  19. Repositioning of premaxilla in bilateral cleft lip and palate using a "J-hook headgear".

    Science.gov (United States)

    Kecik, Defne; Enacar, Ayhan

    2006-11-01

    The purpose of this clinical approach is to present the successful treatment of the severely protruded and extruded premaxilla with high-pull J-hook headgear. Two patients with bilateral cleft lip and palate deformity and a protruding and extruding premaxilla causing a deep bite were treated with high-pull J-hook headgear and fixed orthodontic appliances. The lateral cephalometric measurements before and after orthodontic treatment were evaluated with Ricketts analysis. The premaxillae of the two patients were repositioned, correcting the deep overbite and overjet and a well-functioning occlusion was attained. The repositioning of an inferiorly positioned and protruded premaxilla with J-hook headgear is an alternative treatment approach compared to other treatment modalities.

  20. Comparing caries risk profiles between 5- and 10- year-old children with cleft lip and/or palate and non-cleft controls

    DEFF Research Database (Denmark)

    Sundell, Anna Lena; Ullbro, Christer; Marcusson, Agneta;

    2015-01-01

    of cleft lip and/or palate (CL(P)) children with non-cleft controls in the same age using a computerized caries risk assessment model. METHODS: The study group consisted of 133 children with CL(P) (77 subjects aged 5 years and 56 aged 10 years) and 297 non-cleft controls (133 aged 5 years and 164 aged 10...... years). A questionnaire was used to collect data concerning the child's oral hygiene routines, dietary habits and fluoride exposure. Oral hygiene was assessed using Quigley-Hein plaque Index and the caries prevalence and frequency was scored according to the International Caries Detection and Assessment...... System. Whole saliva samples were analyzed for mutans streptococci, lactobacilli, buffering capacity and secretion rate. The risk factors and risk profiles were compared between the groups with aid of Cariogram and the estimated risk for future caries was categorized as "high" or "low". RESULTS: Children...

  1. Skull thickness in patients with clefts

    DEFF Research Database (Denmark)

    Arntsen, T; Kjaer, I; Sonnesen, L;

    2010-01-01

    The purpose was to analyze skull thickness in incomplete cleft lip (CL), cleft palate (CP), and combined cleft lip and palate (UCLP).......The purpose was to analyze skull thickness in incomplete cleft lip (CL), cleft palate (CP), and combined cleft lip and palate (UCLP)....

  2. Amelogenin gene influence on enamel defects of cleft lip and palate patients

    Directory of Open Access Journals (Sweden)

    Fernanda Veronese OLIVEIRA

    2014-08-01

    Full Text Available The aim of this study was to investigate the occurrence of mutations in the amelogenin gene (AMELX in patients with cleft lip and palate (CLP and enamel defects (ED. A total of 165 patients were divided into four groups: with CLP and ED (n=46, with CLP and without ED (n = 34, without CLP and with ED (n = 34, and without CLP or ED (n = 51. Genomic DNA was extracted from saliva followed by conducting a Polymerase Chain Reaction and direct DNA sequencing of exons 2 through 7 of AMELX. Mutations were found in 30% (n = 14, 35% (n = 12, 11% (n = 4 and 13% (n = 7 of the subjects from groups 1, 2, 3 and 4, respectively. Thirty seven mutations were detected and distributed throughout exons 2 (1 mutation – 2.7%, 6 (30 mutations – 81.08% and 7 (6 mutations – 16.22% of AMELX. No mutations were found in exons 3, 4 or 5. Of the 30 mutations found in exon 6, 43.34% (n = 13, 23.33% (n = 7, 13.33% (n = 4 and 20% (n = 6 were found in groups 1, 2, 3 and 4, respectively. c.261 C > T (rs2106416, a silent mutation, was detected in 26 subjects, and found more significantly (p = 0.003 in patients with CLP (groups 1 and 2 – 23.75%, compared with those without CLP (groups 3 and 4 – 8.23%. In the groups without ED, this silent mutation was also found more significantly (p = 0.032 among subjects with CLP (17.65% in group 2, compared with those without CLP (7.8% in group 4. In conclusion, this study suggested that AMELX may be a candidate gene for cleft lip and palate.

  3. Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate

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    Xu, Hao; Niu, Yonghua; Wang, Tao; Liu, Simin; Xu, Hua; Wang, Shaogang; Liu, Jihong; Ye, Zhangqun

    2015-01-01

    Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia and is sometimes associated with cleft lip/palate (CLP). In order to describe the clinical features, genetic etiology, and treatment outcome of KS males with CLP, we performed genetic screening for 15 known causal IHH genes (KAL1, FGFR1, NELF, FGF8, CHD7, WDR11, SEMA3A, KISS1R, KISS1, PROKR2, PROK2, TAC3, TACR3, GNRH1, and GNRHR) in four KS with CLP patients and six IHH patients without CLP. Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. These two mutations were not presented in their healthy parents and 200 normal controls. One novel heterozygous missense mutation in KISS1R, (NM_032551): c.587C>A (p.P196H), was identified in an 18-year-old KS male with cleft lip and dental agenesis who developed sperm after being treated with gonadotropin. This mutation was also presented in his healthy father and grandfather. These results have implications for the diagnosis, genetic counseling, and treatment of KS and CLP males with mutations in FGFR1 gene. PMID:26199944

  4. Osteopontin, osteocalcin, and osteoprotegerin expression in human tissue affected by cleft lip and palate

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    Smane L.

    2016-01-01

    Full Text Available Cleft lip and palate (CLP is a common congenital anomaly with a complex etiology which has not been elucidated yet. This study investigated whether expression of osteopontin (OPN, osteoprotegerin (OPG, and osteocalcin (OC, which are essential for the normal craniofacial bone remodelling, is not regulated in children with CLP. Alveolar bone tissue samples were obtained from patients with complete bilateral (CB CLP (n = 14 during corrective plastic surgery and unaffected control subjects (n = 9. OPN, OPG, and OC expression was assessed by immunohistochemistry, and data were analyzed with the Mann-Whitney test. OPN expression was observed only sporadically in the alveolar bone of 3 patients, in contrast to the control group (z = −2.962; P < 0.003. The number of OPG-positive bone cells varied from occasional to moderate, in contrast to the control group (z = −2.247; P = 0.025. OC-positive osteocytes were present in moderate to numerous numbers in both patients and controls, with no significant difference between them (z = −1.356; P < 0.175. The prominent expression of OC characteristic for CBCLP affected hard tissue indicates a high potential of bone mineralization. Few OPG-positive osteocytes in the bone tissue implicate the disregulation of osteoclast differentiation, maturation, and activity, but few OPN-containing cells may prove the common disregulation of bone remodelling during cleft morphopathogenesis.

  5. The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

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    Han, Hyun Ho; Choi, Eun Jeong; Kim, Ji Min; Shin, Jong Chul

    2016-01-01

    Background The prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P) and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center. Methods The multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation. Results The abortion rate was 28% (3/11). The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91%) reported that they were satisfied with the multidisciplinary management in our center. Conclusions Although a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy. PMID:27019808

  6. The effect of Delaire cheilorhinoplasty on midfacial growth in patients with unilateral cleft lip and palate.

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    Rullo, Rosario; Laino, Gregorio; Cataneo, Marisa; Mazzarella, Nicoletta; Festa, Vincenzo Maria; Gombos, Fernando

    2009-02-01

    The aim of this research was to evaluate the effect of the Delaire surgical technique on the midfacial morphology in a group of subjects with a congenital unilateral cleft of lip and palate (UCLP), prior to orthodontic treatment. Thirty-five UCLP (15 left and 20 right) patients (16 males and 19 females, mean age 7.03+/-0.9 years; age range 8.7-5.0 years), treated for the correction of congenital malformation, were retrospectively selected. Analysis of midfacial growth was undertaken on lateral cephalograms, and the data were compared with reference values (Ricketts analysis). A Mann-Whitney ranked sum test was used to detect significant differences between the findings and reference values. P cleft lip might be responsible for excessive maxillary retropositioning with a downward rotation.

  7. Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population

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    Suazo José

    2011-12-01

    Full Text Available Abstract Background Bone morphogenetic protein 4 gene (BMP4 plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP and BMP4 polymorphisms by detecting transmission deviations for haplotypes that include a region containing a BMP4 promoter in case-parent trios. The aim of the present study was to search for possible causal mutations within BMP4 promoters (BMP4.1 and BMP4.2. Methods We analyzed the sequence of BMP4.1 and BMP4.2 in 167 Chilean NSCLP cases and 336 controls. Results We detected three novel variants in BMP4.1 (c.-5514G > A, c.-5365C > T and c.-5049C > T which could be considered as cleft risk factors due to their absence in controls. Additionally, rs2855530 G allele (BMP4.2 carriers showed an increased risk for NSCLP restricted to males (OR = 1.52; 95% C.I. = 1.07-2.15; p = 0.019. For this same SNP the dominant genotype model showed a higher frequency of G/G+G/C and a lower frequency of C/C in cases than controls in the total sample (p = 0.03 and in the male sample (p = 0.003. Bioinformatic prediction analysis showed that all the risk variants detected in this study could create new transcription factor binding motifs. Conclusions The sex-dependent association between rs2855530 and NSCLP could indirectly be related to the differential gene expression observed between sexes in animal models. We concluded that risk variants detected herein could potentially alter BMP4 promoter activity in NSCLP. Further functional and developmental studies are necessary to support this hypothesis.

  8. Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate.

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    Gerson Shigeru Kobayashi

    Full Text Available Non-syndromic cleft lip/palate (NSCL/P is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here, using a combination of transcriptomic profiling and functional approaches, we report that NSCL/P dental pulp stem cells exhibit dysregulation of a co-expressed gene network mainly associated with DNA double-strand break repair and cell cycle control (p = 2.88×10(-2-5.02×10(-9. This network included important genes for these cellular processes, such as BRCA1, RAD51, and MSH2, which are predicted to be regulated by transcription factor E2F1. Functional assays support these findings, revealing that NSCL/P cells accumulate DNA double-strand breaks upon exposure to H2O2. Furthermore, we show that E2f1, Brca1 and Rad51 are co-expressed in the developing embryonic orofacial primordia, and may act as a molecular hub playing a role in lip and palate morphogenesis. In conclusion, we show for the first time that cellular defences against DNA damage may take part in determining the susceptibility to NSCL/P. These results are in accordance with the hypothesis of aetiological overlap between this malformation and cancer, and suggest a new pathogenic mechanism for the disease.

  9. Prenatal diagnosis of cleft lip/palate: The surface rendered oro-palatal (SROP) view of the fetal lips and palate, a tool to improve information-sharing within the orofacial team and with the parents.

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    Levaillant, Jean-Marc; Nicot, Romain; Benouaiche, Laurence; Couly, Gérard; Rotten, Daniel

    2016-07-01

    The ultrasonographic surface rendered oro-palatal (SROP) view is a 3D reconstructed view of the fetal perioral region, which combines ultrasound insonation in a trans oral, upward directed axial direction and the surface rendered mode. It allows the simultaneous visualization on a single scan of the superior lip, alveolar ridge and secondary palate. It corresponds prenatally to the submental intra oral photography of the palate of neonates. The aim of the study was to demonstrate the benefice of using the SROP view in the management of cleft lip with or without cleft palate, uni- or bi-lateral, diagnosed prenatally (22-28 gestational weeks). The SROP view allowed the representation on a single view of the characteristics of the defect useful to the different members of the orofacial team to exactly evaluate the difformity and to plan the ulterior therapeutic steps (e.g. side, extension of the cleft to the secondary palate, tooth organization). Also, being easier to read by lay people thanks to the use of a surface rendered representation rather than the usual multiplanar reconstructions in the three traditional orthogonal planes, the SROP view makes it easier to bring exact information to the parents about the malformation and its consequences. PMID:27211349

  10. Centralisation of services for children with cleft lip or palate in England: a study of hospital episode statistics

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    Fitzsimons Kate J

    2012-06-01

    Full Text Available Abstract Background In 1998, a process of centralisation was initiated for services for children born with a cleft lip or palate in the UK. We studied the timing of this process in England according to its impact on the number of hospitals and surgeons involved in primary surgical repairs. Methods All live born patients with a cleft lip and/or palate born between April 1997 and December 2008 were identified in Hospital Episode Statistics, the database of admissions to English National Health Service hospitals. Children were included if they had diagnostic codes for a cleft as well as procedure codes for a primary surgical cleft repair. Children with codes indicating additional congenital anomalies or syndromes were excluded as their additional problems could have determined when and where they were treated. Results We identified 10,892 children with a cleft. 21.0% were excluded because of additional anomalies or syndromes. Of the remaining 8,606 patients, 30.4% had a surgical lip repair only, 41.7% a palate repair only, and 28.0% both a lip and palate repair. The number of hospitals that carried out these primary repairs reduced from 49 in 1997 to 13, with 11 of these performing repairs on at least 40 children born in 2008. The number of surgeons responsible for repairs reduced from 98 to 26, with 22 performing repairs on at least 20 children born in 2008. In the same period, average length of hospital stay reduced from 3.8 to 3.0 days for primary lip repairs, from 3.8 to 3.3 days for primary palate repairs, and from 4.6 to 2.6 days for combined repairs with no evidence for a change in emergency readmission rates. The speed of centralisation varied with the earliest of the nine regions completing it in 2001 and the last in 2007. Conclusions Between 1998 and 2007, cleft services in England were centralised. According to a survey among patients’ parents, the quality of cleft care improved in the same period. Surgical care became more

  11. Fistula Rate after primary palatal repair with intravelarveloplasty: a retrospective three-year audit of six units (NorCleft) in the UK.

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    Moar, Kanwalraj K; Sweet, Christopher; Beale, Victoria

    2016-07-01

    Our aim was to evaluate the rate of fistulation after one-stage palatal repair by intravelarveloplasty in the NorCleft Cleft Services (Scotland and Northern England), this being a primary outcome measure after repair of a cleft palate. We designed a retrospective, three-year clinical audit of six cleft units in the UK, and retrospectively reviewed the casenotes of babies with cleft palate born in 2006-2008 who were treated by intravelarveloplasty. We recorded type of cleft and procedure, including lateral relieving incisions, and our main outcome measure was the presence of a fistula behind the incisive foramen at 3 years of age, or a history of repair of a fistula. A total of 743 patients had cleft palates, but 69 (9%) were excluded (because they had not been operated on, or had not been reviewed by the age of 3 years, or their records were unavailable). A total of 626 patients had had a Sommerlad intravelarveloplasty repair, and 48 had had mixed procedures including Veau-Wardill-Kilner, Furlow, or two-stage repairs, and were not studied further. Eighty-seven (14%) who had had intravelarvoloplasty had a fistula behind the incisive foramen. There was no significant difference in age at time of repair between those who developed a fistula and those who did not (p=0.65). The fistula rate of 14% is comparable with that of Sommerlad. The fistula rate was higher in patients who had had lateral releasing incisions (58/275, 21%) or who had bilateral cleft palate (16/63, 25%). To our knowledge this is the largest review of the fistula rate in patients who had primary palatal repair using the intravelarveloplasty technique in the UK, and shows significant correlation between lateral releasing incisions and formation of a fistula, except in the unilateral cleft lip and palate group (p=0.12). PMID:27118617

  12. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP - Part 1: overall aspects

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    José Alberto de Souza Freitas

    2012-02-01

    Full Text Available Cleft lip and palate is the most common among craniofacial malformations and causes several esthetic and functional implications that require rehabilitation. This paper aims to generally describe the several aspects related to this complex pathology and the treatment protocol used by the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP along 40 years of experience in the treatment of individuals with cleft lip and palate.

  13. Comparison of the Pharyngeal Airway Volume between Non-Syndromic Unilateral Cleft Palate and Normal Individuals Using Cone Beam Computed Tomography

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    Shoaleh Shahidi

    2016-09-01

    Full Text Available Statement of the Problem: Individuals with cleft lip and cleft palate mostly have airway problems. Introduction of cone beam computed tomography (CBCT and imaging software has provided the opportunity for a more precisely evaluating 3D volume of the airway. Purpose: The purpose of this study was to analyze and compare 3D the pharyngeal airway volumes of cleft palate patients with normal individuals using CBCT. Materials and Method: 30 complete cleft palate patients were selected from the Department of Orthodontics; Dental University (Shiraz, Iran who had CBCT scans of the head. The control group included 30 individuals with Class I angle occlusion who were matched for age and gender with the experimental group. ITK-SNAP 2.4.0 PC software was used to build 3D models of the airways for the subjects and measuring airway volumes. The statistical analyses were performed using SPSS software (version 19. Mann-Whitney test was adopted with p< 0.05 as statistical significance. Results: The average volume of the pharyngeal airway of cleft group was 18.6 cm3, with mean volumes of 6.8 cm3 for the superior component and 11.3 cm3 for the inferior component. The total and superior airway volume of cleft group were significantly lower than non-cleft groups (p= 0.008, p= 0.00, respectively but the inferior airway volumes were not significantly different between the cleft and non-cleft groups. There was a significant and positive correlation between superior airway volume and inferior airway volume in cleft palate patients (r=+0.786, p< 0.001 and control group (r=+0.575, p= 0.001. Conclusion: 3D analysis showed that the nasal and total airway was restricted in individuals with cleft palate but the inferior airway was not compromised in these individuals. This would be a crucial data to be considered for surgeons during surgical planning.

  14. Self-esteem, coping styles, and quality of life in polish adolescents and young adults with unilateral cleft lip and palate.

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    Pisula, Ewa; Lukowska, Ewa; Fudalej, Piotr S

    2014-05-01

    Objectives : To evaluate self-esteem, coping styles, and health-related quality of life and their relationships in Polish adolescents and young adults with unilateral complete cleft lip and palate and related sex differences. Design and Participants : Self-report questionnaires measuring self-esteem (Multidimensional Self-Esteem Inventory), coping styles (Coping Inventory for Stressful Situations), and health-related quality of life (WHOQOL-BREF) were completed by 48 participants with cleft lip and palate (age, 16 to 23 years; 31 males, 17 females) and 48 controls without cleft lip and palate (age, 16 to 23 years; 28 males, 20 females) matched for age, place of residence, and socioeconomic status. Results : Regarding self-esteem, individuals with cleft lip and palate scored higher on body functioning (P self-enhancement (P Self-control showed an interaction effect: Females with cleft lip and palate scored higher than controls, but males did not differ between groups (P self-esteem and coping styles, and quality of life (P self-enhancement of individuals with cleft lip and palate suggest the need for instruments measuring social approval in psychosocial adjustment research involving this group. PMID:23902271

  15. Speech outcomes in 10-year-old children with complete unilateral cleft lip and palate after one-stage lip and palate repair in the first year of life.

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    Hortis-Dzierzbicka, M.; Radkowska, E.; Fudalej, P.S.

    2012-01-01

    An evaluation of the results of one-stage repair of unilateral cleft lip and palate (UCLP) performed at the Institute of Mother and Child, Warsaw, Poland, has shown that the dentofacial outcomes are comparable with those of the best cleft centres. The aim of this study was to assess speech developme

  16. Perceptions of family members of children with cleft lip and palate in hyderabad, India, and its rural outskirts regarding craniofacial anomalies: a pilot study

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    Naram, A.; Makhijani, S.N.; Naram, D.; Reddy, S.G.; Reddy, R.R.; Lalikos, J.F.; Chao, J.D.

    2013-01-01

    Objective : This pilot study aimed to understand cultural perspectives on cleft anomalies in the community of Hyderabad, India, and its rural outskirts. Design : Interviews focusing on perceptions of cleft lip and palate were conducted using a 21-item interview guide approved by the director of the

  17. Dental arch relationship in children with complete unilateral cleft lip and palate following one-stage and three-stage surgical protocols

    NARCIS (Netherlands)

    Fudalej, P.S.; Katsaros, C.; Bongaarts, C.; Dudkiewicz, Z.; Kuijpers-Jagtman, A.M.

    2011-01-01

    The objective of this study is to compare dental arch relationship following one-stage and three-stage surgical protocols of unilateral cleft lip and palate. Dental casts of 61 children (mean age, 11.2 years; SD, 1.7), consecutively treated in one center with one-stage closure of the complete cleft

  18. Dental arch relationship in children with complete unilateral cleft lip and palate following warsaw (one-stage repair) and oslo protocols.

    NARCIS (Netherlands)

    Fudalej, P.S.; Hortis-Dzierzbicka, M.; Dudkiewicz, Z.; Semb, G.

    2009-01-01

    OBJECTIVE: To compare the dental arch relationship following one-stage repair of unilateral cleft lip and palate (UCLP) in Warsaw with a matched sample of patients treated by the Oslo Cleft Team. MATERIAL: Study models of 61 children (mean age, 11.2; SD, 1.7) with a nonsyndromic complete UCLP consec

  19. Selected aspects of the oral environment in cleft palate patients – a problem evidently beyond dentists’ scope

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    Joanna AntoszewskaABCD

    2010-12-01

    Full Text Available Introduction:The oral cavity is a specialized ecosystem composed of dentition and mucosa exposed to the effects of saliva and gingival liquid. Its structure provides advantageous conditions for various microorganisms, both aerobic streptococci and anaerobic bacilli. The dynamic balance of the oral cavity ecosystem can be threatened by various factors. Lip and palatal clefts are the most frequent disorders in embryonic facial development. The aim of the study was to evaluate whether Streptococcus mutans and Lactobacillus acidophilus and oral cavity hygiene in patients with cleft palate treated orthodontically are significantly different compared with patients without these congenital malformations.Material/Methods:The study group consisted of 200 patients aged 6–21 who were divided into two groups depending on the presence of cleft palate and treatment method. Group C (control consisted of 50 orthodontically untreated patients with occlusal dental defects. The performed studies consisted of 2 parts: the clinical-laboratory part and statistical analysis.Clinical-laboratory partResults:High bacteria levels of Streptococcus mutans and Lactobacillus acidophilus in saliva of patients were comparably frequent between groups, but there were statistically significant differences in inter-group comparisons.Conclusions:As the orthodontic treatment changes the oral environment, control of proper hygienic behavior is an essential element of health education. Introduction of preventive programs is also very important.

  20. Exposure of Cleft Lip and Palate Patients to Toxic Elements Released during Orthodontic Treatment in the Study of Non-Invasive Matrices

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    Mikulewicz, Marcin; Kachniarz, Krzysztof; Chojnacka, Katarzyna

    2015-01-01

    The Objective The aim of the study was evaluation of metal ions (nickel and chromium) released from orthodontic appliances in cleft lip and palate patients and the usefulness of non-invasive matrices (saliva and hair). Materials and Methods The material studied consisted of 100 individuals, including 59 females and 41 males of 5 to 16 years of age, which were divided into 3 groups: experimental–patients with cleft lip and palate (36 individuals, the average treatment time 5.74 years); control group–patients without cleft lip and palate, during orthodontic treatment (32 individuals, the average treatment time 1.78 years) and the control group patients without cleft lip and palate, without any orthodontic appliances (32 individuals). Samples (saliva, hair) were collected and subjects underwent a survey by questionnaire. Multi-elemental analyses of the composition of non-invasive matrices was conducted in an accredited laboratory by inductively coupled plasma spectrometry technique ICP-OES. The results were reported as mean contents of particular elements (Cd, Cr, Cu, Fe, Mn, Mo, Ni, Si) in hair and in saliva. Results The concentration of Cr, Ni, Fe and Cu ions in saliva of cleft lip and palate patients were several times higher as compared with not treated orthodontically control groups and higher than in the group with orthodontic appliances. Among the assessed matrices, hair of cleft lip and palate patients seem to be not a meaningful biomarker. Conclusion It was found that orthodontic appliances used in long-term treatment of cleft lip and palate patients do not release toxic levels of Cr and Ni ions. PMID:26544176

  1. Exposure of Cleft Lip and Palate Patients to Toxic Elements Released during Orthodontic Treatment in the Study of Non-Invasive Matrices.

    Directory of Open Access Journals (Sweden)

    Marcin Mikulewicz

    Full Text Available The aim of the study was evaluation of metal ions (nickel and chromium released from orthodontic appliances in cleft lip and palate patients and the usefulness of non-invasive matrices (saliva and hair.The material studied consisted of 100 individuals, including 59 females and 41 males of 5 to 16 years of age, which were divided into 3 groups: experimental-patients with cleft lip and palate (36 individuals, the average treatment time 5.74 years; control group-patients without cleft lip and palate, during orthodontic treatment (32 individuals, the average treatment time 1.78 years and the control group patients without cleft lip and palate, without any orthodontic appliances (32 individuals. Samples (saliva, hair were collected and subjects underwent a survey by questionnaire. Multi-elemental analyses of the composition of non-invasive matrices was conducted in an accredited laboratory by inductively coupled plasma spectrometry technique ICP-OES. The results were reported as mean contents of particular elements (Cd, Cr, Cu, Fe, Mn, Mo, Ni, Si in hair and in saliva.The concentration of Cr, Ni, Fe and Cu ions in saliva of cleft lip and palate patients were several times higher as compared with not treated orthodontically control groups and higher than in the group with orthodontic appliances. Among the assessed matrices, hair of cleft lip and palate patients seem to be not a meaningful biomarker.It was found that orthodontic appliances used in long-term treatment of cleft lip and palate patients do not release toxic levels of Cr and Ni ions.

  2. Teleducation about Cleft Lip and Palate: An Interdisciplinary Approach in the Promotion of Health

    Science.gov (United States)

    Corrêa, Camila de Castro; Freire, Thais; Zabeu, Júlia Speranza; Martins, Aline; Ferreira, Rafael; Francisconi, Paulo Afonso Silveira; Dutka, Jeniffer de Cássia Rillo; Blasca, Wanderléia Quinhoeiro

    2015-01-01

    Introduction The Young Doctor Project (YDP) uses Telehealth and Interactive Teleducation instruments to promote the integration of different areas of health and to build knowledge. This methodology can also foster public awareness on various issues related to health. In this context, the objective of this study was to emphasize cleft lip and palate (CLP), which is one of the most common birth defects in Brazil. Objective The study aimed to apply a model of education regarding CLP, based on the dynamics of the YDP, and to evaluate the participants' knowledge acquired after participating in the YDP. Methods The participants were 41 students, 13 to 15 years of age and at the eight- and ninth-grade levels in a private elementary school in Bauru (Brazil). To analyze the performance of the participants, a questionnaire was administered before and after the completion of the training program. The training program was structured in three steps using: (1) interactive teleducation classes, (2) a cybertutor, and (3) practical activities. Results There was a statistically significant difference between the pre- and postparticipation questionnaire results. The improved performance of participants is evidenced by the increase in the rate of correct answers on all issues. Conclusion The YDP on CLP was applied in the school setting following the three steps recommended by the project, and, after the implementation of the training program, there was a significant increase in participants' knowledge of CLP. The YDP on CLP proved an effective tool in promoting health education. PMID:25992163

  3. Automatic detection of articulation disorders in children with cleft lip and palate.

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    Maier, Andreas; Hönig, Florian; Bocklet, Tobias; Nöth, Elmar; Stelzle, Florian; Nkenke, Emeka; Schuster, Maria

    2009-11-01

    Speech of children with cleft lip and palate (CLP) is sometimes still disordered even after adequate surgical and nonsurgical therapies. Such speech shows complex articulation disorders, which are usually assessed perceptually, consuming time and manpower. Hence, there is a need for an easy to apply and reliable automatic method. To create a reference for an automatic system, speech data of 58 children with CLP were assessed perceptually by experienced speech therapists for characteristic phonetic disorders at the phoneme level. The first part of the article aims to detect such characteristics by a semiautomatic procedure and the second to evaluate a fully automatic, thus simple, procedure. The methods are based on a combination of speech processing algorithms. The semiautomatic method achieves moderate to good agreement (kappa approximately 0.6) for the detection of all phonetic disorders. On a speaker level, significant correlations between the perceptual evaluation and the automatic system of 0.89 are obtained. The fully automatic system yields a correlation on the speaker level of 0.81 to the perceptual evaluation. This correlation is in the range of the inter-rater correlation of the listeners. The automatic speech evaluation is able to detect phonetic disorders at an experts'level without any additional human postprocessing.

  4. Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

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    Pengelly, Reuben J; Arias, Liliana; Martínez, Julio; Upstill-Goddard, Rosanna; Seaby, Eleanor G; Gibson, Jane; Ennis, Sarah; Collins, Andrew; Briceño, Ignacio

    2016-01-01

    Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes. Through exome sequencing of multi-case families ascertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging by at least one predictive score. We discuss the functional impact of candidate variants identified. In one family we find a coding variant in the MSX1 gene which is predicted damaging by multiple scores. This variant is in exon 2, a highly conserved region of the gene. Previous sequencing has suggested that mutations in MSX1 may account for ~2% of NSCLP. Our analysis further supports evidence that a proportion of NSCLP cases arise through monogenic coding mutations, though further work is required to unravel the complex interplay of genetics and environment involved in facial clefting. PMID:27456059

  5. [The impact of cleft lip and palate on the parent-child relationships].

    Science.gov (United States)

    Grollemund, B; Galliani, E; Soupre, V; Vazquez, M-P; Guedeney, A; Danion, A

    2010-09-01

    Cleft lips and palates (CLPs) are the most common human facial malformations. Depending on the ethnic and/or geographical origin of the studied populations, they can affect up to 1/500 newborns. The treatment of these patients is multidisciplinary because these malformations have not only aesthetic consequences but also functional consequences as the phonation, hearing, deglutition, mastication and ventilation are altered. These consequences can also be psychological since the building of the body image, the way others perceive it, is likely to be seriously altered. In Europe there are over 210 reference hospitals for children affected by CLP. Besides, about 190 different protocols were identified. So far no generic protocol was recognized by the medical community as a whole. This discrepancy can be explained by the fact that the aesthetic and functional result of a protocol cannot be accurately assessed before adulthood when the child's growth is complete. Patients presenting with CLP don't usually seem to present with any serious psychological or psychiatric pathology. Yet a close review of the related literature shows that disorders are actually described: behavioural troubles, anxiety, depression and esthetic dissatisfaction with one's face in children as well as in adults. The difficulty in interpreting these disorders lies in the various factors that are likely to impact this condition (family setting, importance and type of the cleft, surgery protocol, growth, social environment). A multidisciplinary examination of the face and a careful consideration of concerned families show the importance of the psychological context and the risks of a dis-harmonious structuring of the parents-child relationships on the child's development. The identification of the difficulties faced by these families, depending on the child's age, can be easily identified. Of course they can be identified at birth when the family first sees the child and later on at each stage of the

  6. 完全性唇腭裂患者两阶段手术的初步研究%Preliminary Study of Closing Cleft of Soft Palate at an Early Age for Complete Cleft Palate

    Institute of Scientific and Technical Information of China (English)

    徐慧芬; 廖小宜; 郑谦; 乔鞠; 石冰; 田薇; 何勇

    2001-01-01

    目的:介绍采用两阶段手术方法治疗完全性唇腭裂患儿的初步结果。方法:对37例患儿采用两阶段手术方法进行治疗的临床资料进行分析并采用了石膏模型进行测量。结果:除2例软腭裂修复术后有伤口裂开外,余未发生任何并发症。软腭裂修复后,硬腭裂逐渐缩窄。结论:早期软腭裂修复是可行的,它为采用兰氏手术修复硬腭裂创造了条件。%Objective: The aim is to introduce the method closing the soft palate at an early age in order to produce better speech and lessen interruption to the development of maxilla. Methods: Clinical data of 37 cases with treated cleft were preliminarily analyzed. Some dental casts were measured. Results: ① No complications of anaesthesia and surgery. Except 2 cases whose soft palates were split after surgery were observed as they were coughing. ②A reduction in the width of the hard palate cleft was noticed. Conclusion: Closing the soft palate at an early age is possible and safe. It shows that the Langebeck method could be used to close the hard palate of patients at an early age.

  7. Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

    Science.gov (United States)

    Prontera, Paolo; Garelli, Emanuela; Isidori, Ilenia; Mencarelli, Amedea; Carando, Adriana; Silengo, Margherita Cirillo; Donti, Emilio

    2011-11-01

    Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (LMS), and differs from these disorders mainly by the absence of cleft lip and/or palate. We report on a 39-year-old patient who was found to be heterozygous for a c.401G > T (p.Gly134Val) de novo mutation of TP63. This patient had the ADULT phenotype associated with cleft palate. Our findings, rather than extend the clinical spectrum of ADULT syndrome, suggest that cleft palate can no longer be considered an element for differential diagnosis for ADULT, EEC, and LMS. Our data, added to other reports on overlapping phenotypes, support the combining of these three phenotypes into a unique entity that we propose to call "ELA syndrome," which is an acronym of ectrodactyly-ectodermal dysplasia-cleft lip and palate, limb-mammary, and ADULT syndromes.

  8. Prevalence of caries in Brazilian children with cleft lip and∕or palate, aged 6 to 36 months

    Directory of Open Access Journals (Sweden)

    Agda Maria de Moura

    2013-09-01

    Full Text Available The aim of this study was to assess the prevalence of caries in children with cleft lip and∕or palate aged 6–36 months of life. This study was conducted at the University of São Paulo School of Dentistry, Brazil. A total of 143 children were selected (73 male, 70 female, all of whom had at least two erupted teeth. The children were distributed as follows: 88 had cleft lip and palate, 35 had cleft palate, 20 had cleft lip. Dental caries disease was diagnosed according to criteria set by the World Health Organization. It was observed that 18.9% of the study children had caries. No correlation between prevalence of caries and gender or type of cleft was observed. Mean dmf-t was 0.47. The prevalence of caries was higher in the upper arch, and the most affected tooth was the central incisor (p = 0.001. Children with cleft lip and∕or palate did not have high caries indices.

  9. GOS.SP.ASS.'98: an assessment for speech disorders associated with cleft palate and/or velopharyngeal dysfunction (revised).

    Science.gov (United States)

    Sell, D; Harding, A; Grunwell, P

    1999-01-01

    In 1994 the present authors proposed a speech assessment protocol for speech disorders associated with cleft palate and/or velopharyngeal dysfunction known as GOS.SP.ASS. (Great Ormond Street Speech Assessment). In a recent survey undertaken to review the different speech assessment protocols used in six cleft palate centres in the UK, GOS.SP.ASS. was selected from six protocols as the optimal procedure for clinical and research purposes. The process of identifying an optimal procedure involved analysis of completed forms for each assessment. Analysis of the completed GOS.SP.ASS. forms revealed significant ambiguities in the protocol which led to differences in form completion. This paper describes important revisions to the original GOS.SP.ASS. protocol in order to ensure comparable data from different clinicians. This detailed speech assessment is now complemented by the Cleft Audit Protocol for Speech (CAPS), a tool recommended for clinical audit. As a result of close collaboration in their preparation, the results are directly comparable. In addition, the speech elicitation sentences and the phonetic diagram have been modified.

  10. Observation of the human fetal corpses with maxillofacial malformations. 1. CT and MRI examinations of the fetal cleft lip and/or palate

    Energy Technology Data Exchange (ETDEWEB)

    Saito, Chikara; Nakano, Yoko; Shigematsu, Shiro [Tokyo Dental Coll., Chiba (Japan)] (and others)

    1999-06-01

    Of the various types of congenital malformations, the cleft lip and/or palate is one of the most frequent. Observation of human fetal corpses exhibiting cleft lip and palate is very important to research on its onset of its mechanism and development. In recent years, some of researchers have performed clinical studies on prenatal diagnosis and surgical treatment for the entirey. However, there have hardly been any reports on detailed observations of the maxillofacial structure of a fetus with cleft lip and palate. We seized an opportunity of observing the maxillofacial structure of fetuses with cleft lip and/or palate using three-dimensional CT (3D-CT) and MR imaging as non-disjunctive methods. In the present study, nine fetal corpses having cleft lip and/or palate were examined. The results were as follows: CT and MRI were useful for non-invasive observation of the maxillofacial structure, including soft tissues. Because the osseous tissues of young fetus tissue is not fully mature, observation of bone structures was slightly difficult. When corpses were immersed in formalin for a long time, osseous tissue was decalcified, thus making it difficult to obtain clear images. We could observe the details of the maxillofacial structures such as the alveolar process, the hard palate, the maxillary sinus, the nasal cavity, the nasal bone, and the vomer, in some of the cases. 3D-CT and MR findings observed in the fetuses with cleft lip and/or palate should provide some basement of the imaging diagnosis of congenital disorder. (author)

  11. Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Cooper, Margaret E;

    2016-01-01

    OBJECTIVE: Monozygotic twins of an individual with an orofacial cleft have a significantly elevated risk for orofacial cleft compared with the general population, but still the concordance rate for orofacial cleft in monozygotic twins is about 40% to 50%. The goal of this study was to determine w...

  12. Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data.

    Science.gov (United States)

    Dunkhase, Eva; Ludwig, Kerstin U; Knapp, Michael; Skibola, Christine F; Figueiredo, Jane C; Hosking, Fay Julie; Ellinghaus, Eva; Landi, Maria Teresa; Ma, Hongxia; Nakagawa, Hidewaki; Kim, Jong-Won; Han, Jiali; Yang, Ping; Böhmer, Anne C; Mattheisen, Manuel; Nöthen, Markus M; Mangold, Elisabeth

    2016-12-01

    Previous research suggests a genetic overlap between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and cancer. The aim of the present study was to identify common genetic risk loci for NSCL/P and cancer entities that have been reported to co-occur with orofacial clefting. This was achieved through the investigation of large genome-wide association study datasets. Investigations of 12 NSCL/P single nucleotide polymorphisms (SNPs) in 32 cancer datasets, and 204 cancer SNPs in two NSCL/P datasets, were performed. The SNPs rs13041247 (20q12) and rs6457327 (6p21.33) showed suggestive evidence for an association with both NSCL/P and a specific cancer entity. These loci harbor genes of biological relevance to oncogenesis (MAFB and OCT4, respectively). This study is the first to characterize possible pleiotropic risk loci for NSCL/P and cancer in a systematic manner. The data represent a starting point for future research by identifying a genetic link between NSCL/P and cancer. PMID:27630819

  13. Overview of orthodontic care for children with cleft lip and palate, 1915-2015.

    Science.gov (United States)

    Vig, Katherine W L; Mercado, Ana M

    2015-10-01

    The purpose of this article is to review and discuss the advances in the management of children born with cleft lip and palate (CLP) as it has evolved over the past 100 years. This overview is based on articles published in the American Journal of Orthodontics, which frequently changed its name, over the past century. Additionally, other journals will be cited as craniofacial anomalies became recognized during the 20th century and the biologic basis became refined, with the new discipline of genetics replacing the term hereditary and its connotations of eugenics. The Human Genome Project, completed in 2003, has now provided an understanding of syndromic and nonsyndromic CLP that has led to advances in the diagnosis and treatment of CLP in the 21st century. These evolving concepts will be discussed in an overview of the types of procedures published from 1915 to 2015 and the major transition in the mid-20th century from multiple uncoordinated interventions from various specialists to a coordinated team approach in which the orthodontist has a specific role in the timing and sequencing of interdisciplinary treatment goals. Major technologic advancements in treatment modalities and the contemporary approach to the health-related quality of life of the patient and the caregiver have resulted in their participation in treatment options and decisions. The requirement of informed consent reflects the legal doctrine that now emphasizes the ethical imperative of greater respect for patient autonomy in the decision-making process. The orthodontist no longer makes decisions alone, but rather with the team and the patient or the caregiver. PMID:26432310

  14. Acute liver failure following cleft palate repair: a case of therapeutic acetaminophen toxicity.

    Science.gov (United States)

    Iorio, Matthew L; Cheerharan, Meera; Kaufman, Stuart S; Reece-Stremtan, Sarah; Boyajian, Michael

    2013-11-01

    Background : Acetaminophen is a widely used analgesic and antipyretic agent in the pediatric population. While the hepatotoxic effects of the drug have been well recognized in cases of acute overdose and chronic supratherapeutic doses, the toxic effects of acetaminophen are rarely documented in cases where therapeutic guidelines are followed. Case : An 8-month-old boy underwent cleft palate repair and placement of bilateral myringotomy tubes. His anesthetic course was uneventful, consisting of maintenance with desflurane and fentanyl. He received acetaminophen for routine postoperative pain management and was tolerating liquids and discharged home on postoperative day 1. On day 3, the child was profoundly lethargic with multiple episodes of emesis and was taken to the emergency department. He suffered a 45-second tonic-clonic seizure in transport to the regional children's medical center, and initial laboratory results demonstrated acute hepatitis with AST 24,424 U/L, ALT 12,885 U/L, total bilirubin 3.1 mg/dL, and a serum acetaminophen level of 83 μg/mL. Aggressive supportive measures including blood products and periprocedural fresh frozen plasma, piperacillin/tazobactam, and intravenous infusions of N-acetylcysteine, sodium phenylacetate and sodium benzoate, carnitine, and citrulline were administered. His metabolic acidosis and acute hepatitis began to correct by day 4, and he was discharged home without further surgical intervention on day 15. Conclusion : Although acetaminophen is an effective and commonly used analgesic in pediatric practice, hepatotoxicity is a potentially devastating complication. This report challenges the appropriateness of existing guidelines for acetaminophen administration and emphasizes the importance of close follow-up and hydration after even relatively minor surgery.

  15. Surgical management of a large cleft palate in a Pierre Robin sequence: A case report and review of literature.

    Science.gov (United States)

    Andrews, Sherry; Sam, Mathew; Krishnan, Ramesh; Ramesh, Maya; Kunjappan, Shiji M

    2015-08-01

    Pierre Robin syndrome or Pierre Robin sequence (PRS) is a congenital etiologically heterogeneous condition presenting with various malformations. Here we are reporting the surgical management of an 18-month-old female baby who was referred from Department of Pediatrics with a complaint of a large cleft palate. She was taken up for palatoplasty with consent for elective tracheostomy. After genetic evaluation, the authors conclude that the presented case was a PRS in isolation with mild cardiac anomalies and an inferiorly placed hypoplastic epiglottis. Patient should be followed up and growth modifications of the jaws should be done.

  16. Oral health related quality of life in cleft lip and palate patients rehabilitated with conventional prostheses or dental implants

    OpenAIRE

    Papi, Piero; Giardino, Rita; Sassano, Pierpaolo; Amodeo, Giulia; Pompa, Giorgio; Cascone, Piero

    2015-01-01

    Objectives: Cleft lip and/or palate (CLP) is the most common congenital craniofacial abnormality, with a prevalence of 9.92 per 10,000 live births. In treating patients with CLP, oral rehabilitation is definitely a very important phase of the treatment in order to improve the patient's oral health related quality of life (OH-QoL). The aim of this retrospective study is to assess the OH-QoL in patients rehabilitated with different prosthetic options, thus comparing the conventional treatments,...

  17. Contribution to facial morphology study of the unilateral cleft lip and palate patients, by cephalometric radiographs, in frontal norm

    International Nuclear Information System (INIS)

    A study by cephalometric radiography, in frontal norm, is used to measure the magnitude of some linear dimensions of the face, in a sample of a 100 Brazilian, caucasian people. They were from both sexes, with average age of 20 years and were distributed into two groups: control group and unilateral cleft lip and palate group. Cephalometric radiography in frontal norm is obtained of each patient. In each teleradiography some parameters were measured by using a computer. An statistic analysis of the values obtained is presented. (M.A.C.)

  18. Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

    Science.gov (United States)

    Gamba, Bruno F.; Rosenberg, Carla; Costa, Silvia; Richieri-Costa, Antonio; Ribeiro-Bicudo, Lucilene A.

    2015-01-01

    The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few well-known human phenotypes, namely HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and DGS2 (DiGeorge syndrome 2), but a number of variable phenotypes have also been reported. Cleft lip/palate seems to be a very unusual finding within the clinical spectrum of patients with this deletion. Here, we report a male child born with short stature, cleft lip/palate, and feeding problems who was found to have a 5.6-Mb deletion at 10p15.3p14. PMID:25852446

  19. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

    Science.gov (United States)

    Mangold, Elisabeth; Böhmer, Anne C.; Ishorst, Nina; Hoebel, Ann-Kathrin; Gültepe, Pinar; Schuenke, Hannah; Klamt, Johanna; Hofmann, Andrea; Gölz, Lina; Raff, Ruth; Tessmann, Peter; Nowak, Stefanie; Reutter, Heiko; Hemprich, Alexander; Kreusch, Thomas; Kramer, Franz-Josef; Braumann, Bert; Reich, Rudolf; Schmidt, Gül; Jäger, Andreas; Reiter, Rudolf; Brosch, Sibylle; Stavusis, Janis; Ishida, Miho; Seselgyte, Rimante; Moore, Gudrun E.; Nöthen, Markus M.; Borck, Guntram; Aldhorae, Khalid A.; Lace, Baiba; Stanier, Philip; Knapp, Michael; Ludwig, Kerstin U.

    2016-01-01

    Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in 576 Europeans with nsCL/P and 96 with nsCPO. Most strikingly, nsCPO-affected individuals had a higher minor allele frequency for rs41268753 (0.099) than control subjects (0.049; p = 1.24 × 10−2). This association was replicated in nsCPO/control cohorts from Latvia, Yemen, and the UK (pcombined = 2.63 × 10−5; ORallelic = 2.46 [95% CI 1.6–3.7]) and reached genome-wide significance in combination with imputed data from a GWAS in nsCPO triads (p = 2.73 × 10−9). Notably, rs41268753 is not associated with nsCL/P (p = 0.45). rs41268753 encodes the highly conserved p.Thr454Met (c.1361C>T) (GERP = 5.3), which prediction programs denote as deleterious, has a CADD score of 29.6, and increases protein binding capacity in silico. Sequencing also revealed four novel truncating GRHL3 mutations including two that were de novo in four families, where all nine individuals harboring mutations had nsCPO. This is important for genetic counseling: given that VWS is rare compared to nsCPO, our data suggest that dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO. Thus, with rare dominant mutations and a common risk variant in the coding region, we have identified an important contribution for GRHL3 in nsCPO. PMID:27018475

  20. THREE-DIMENSIONAL ASSESSMENT OF THE PHARYNGEAL AIRWAY AND MAXILLARY SINUS VOLUMES IN INDIVIDUALS WITH NON-SYNDROMIC CLEFT LIP AND PALATE

    Directory of Open Access Journals (Sweden)

    Ana NEMȚOI

    2015-09-01

    Full Text Available Introduction: Children with cleft lip and palate (CLP are known to have airway problems. Introduction of ConeBeam CT (CBCT and imaging software has facilitated generation of 3D images for assessing the volume of maxillary sinuses and pharyngeal airway. Consequently, the present study aimed at evaluating and comparing the maxillary sinus and pharyngeal airway volume of patients with cleft lip and palate in healthy patients, using cone beam computed tomography (CBCT images. Materials and method: The sample group included 27 individuals (15 with cleft lip and palate subjects and 12 healthy subjects. The pharyngeal airway and each maxillary sinus were three-dimensionally assessed, segmented and their volume was calculated. A comparison between the right and left sinus was performed by Student t-test, and the differences between the control and cleft groups were calculated using ANOVA. Results: No statistically significant differences were found when the maxillary sinuses volumes from each side were compared (p >0.05. The unilateral CLP patients presented the lowest sinus volume. Individuals with CLP did not exhibit a total airway volume smaller than the nonCLP controls. Conclusions: 3D imaging using CBCT and Romexis software is reliable for assessing maxillary sinus and pharyngeal airway volume. The present study showed that the pharyngeal airway is not compromised in CLP individuals. The unilateral CLP individuals present maxillary sinuses with smaller volumes, no differences being recorded between the cleft and non-cleft side.

  1. The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.

    OpenAIRE

    Gorski, S M; Adams, K. J.; Birch, P H; Friedman, J M; Goodfellow, P J

    1992-01-01

    Human craniofacial malformations are a class of common congenital anomalies in which the etiology is heterogeneous and often poorly understood. To better delineate the molecular basis of craniofacial development, we have undertaken a series of experiments directed toward the isolation of a gene involved in human secondary palate formation. DNA marker linkage studies have been performed in a large British Columbia (B.C.) Native family in which cleft palate segregates as an X-linked trait. We h...

  2. Survey of the patients with cleft lip and palate in China who were funded for surgery by the Smile Train Program from 2000 to 2002

    Institute of Scientific and Technical Information of China (English)

    ZHOU Qiao-juan; SHI Bing; SHI Zong-dao; ZHENG Qian; WANG Yan

    2006-01-01

    Background Cleft lip (CL) and cleft palate (CP) are two of the most frequent congenital malformations.Many epidemiologic studies on this deformity have been conducted worldwide, often producing inconsistent results. This study assessed epidemiology and some genetic aspects of cleft lip and palate in a Chinese sample from the Smile Train Program and to compare with other methodologically sound surveys.Methods The general information, family history, classification of cleft and associated malformations of 8000CL and CP surgery patients were analyzed.Results Of the 8000 cases, 7812 had complete data. The distribution of cleft types is 17.04% with CP, 23.39%with CL and 59.58% with cleft lip and palate (CLP). Unilateral clefts were more common than bilateral, with involved 29 CP cases, 41 CL and 156 CLP. The frequency of associated malformations in CLP (3.35%) was higher than CL (2.24%) and CP (2.22%) (P<0.05). Patients with CP or CLP were born less often in the winter than in the summer (P<0.05). A history of family members having clefts occurred in 6.84% of patients. The proportion of CLP cases (7.56%) was significantly higher than that of CL cases (5.64%) (P<0.05).Conclusions The different types of clefts appeared in the highest proportion in CLP and lowest proportion in CP. Males are more common with CL and CLP and less common with CP. These characteristics are the same as those of other Chinese surveys but different from some European reports.

  3. Prevalence of cleft lip and palate among four provinces in the West and North-West of Iran

    Science.gov (United States)

    Jalilevand, Nahid; Jalaie, Shohreh

    2015-01-01

    Background: One of the most common anomalies in newborn infants is cleft lip and/or cleft palate (CL/P). In spite of several studies about the prevalence of this, no investigation evaluated this prevalence in the West and North-West of Iran. With due attention to different ethnic groups in this area, the aim of this study is to investigate whether the distribution of CL/P live births varies regionally in this area of Iran. Materials and Methods: A cross-sectional study was conducted using hospital registry records to identify all children born with CL/P. The hospitals with a maternity unit were selected in the capital cities of four provinces in the West and North-West of Iran, East Azarbaijan, Kurdestan, Gilan, and Markazi. The population under study included all infants born alive from 2008 to 2012. Results: During the study period, 107,317 live births were registered in the hospitals with a maternity unit of four cities, and 52 infants (0.485/1000 live births) were born with CL/P. The prevalence in Rasht, Arak, Sanandaj, and Tabriz cities was 0.557, 0.352, 0.503, and 0.559/1000 live births, respectively (P 0.05), whereas the prevalence of CL/P based on sex was statistically different among the four provinces (P < 0.05). Conclusion: This study shows regional variations in the birth prevalence of clefts and various cleft types. The different effects of gender on the birth prevalence of CL/P from city-to-city may be explained environmentally and/or by genetic factors affecting the development of oral clefts. PMID:26600829

  4. Prevalence of cleft lip and palate among four provinces in the West and North-West of Iran

    Directory of Open Access Journals (Sweden)

    Nahid Jalilevand

    2015-01-01

    Full Text Available Background: One of the most common anomalies in newborn infants is cleft lip and/or cleft palate (CL/P. In spite of several studies about the prevalence of this, no investigation evaluated this prevalence in the West and North-West of Iran. With due attention to different ethnic groups in this area, the aim of this study is to investigate whether the distribution of CL/P live births varies regionally in this area of Iran. Materials and Methods: A cross-sectional study was conducted using hospital registry records to identify all children born with CL/P. The hospitals with a maternity unit were selected in the capital cities of four provinces in the West and North-West of Iran, East Azarbaijan, Kurdestan, Gilan, and Markazi. The population under study included all infants born alive from 2008 to 2012. Results: During the study period, 107,317 live births were registered in the hospitals with a maternity unit of four cities, and 52 infants (0.485/1000 live births were born with CL/P. The prevalence in Rasht, Arak, Sanandaj, and Tabriz cities was 0.557, 0.352, 0.503, and 0.559/1000 live births, respectively (P 0.05, whereas the prevalence of CL/P based on sex was statistically different among the four provinces (P < 0.05. Conclusion: This study shows regional variations in the birth prevalence of clefts and various cleft types. The different effects of gender on the birth prevalence of CL/P from city-to-city may be explained environmentally and/or by genetic factors affecting the development of oral clefts.

  5. Evaluation of alveolar bone grafting in unilateral cleft lip and palate patients using a computer-aided diagnosis system

    Energy Technology Data Exchange (ETDEWEB)

    Sutthiprapaporn, Pipop; Kongsomboon, Supaporn; Limmonthol, Saowaluck; Pisek, Poonsak; Keinprasit, Chutimaporn [Khon Kaen University, Khon Kaen (Thailand); Tanimoto, Keiji; Nakamoto, Takashi [Dept. of Oral and Maxillofacial Radiology, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima (Japan)

    2012-09-15

    This study aimed to evaluate the trabecular bone changes after alveolar bone grafting in unilateral cleft lip and palate (UCLP) patients using a computer-aided diagnosis (CAD) system. The occlusal radiographs taken from 50 UCLP patients were surveyed retrospectively. The images were categorized as: 50 images in group 0 (before bone grafting), 33 images in group 1 (one month after bone grafting), 24 images in group 2 (2-4 months after bone grafting), 15 images in group 3 (5-7 months after bone grafting), and 21 images in group 4 (8 or more months after bone grafting). Each image was grouped as either 'non-cleft side' or 'cleft side'. The CAD system was used five times for each side to calculate the pixel area based on the mathematical morphology. Significant differences were found using a Wilcoxon signed ranks test or paired samples t test. The pixel area showed a significant difference between the 'non-cleft side' and 'cleft side' in group 0 (404.27{+-}103.72/117.73{+-}92.25; p=0.00), group 1 (434.29{+-}86.70/388.31{+-}109.51; p=0.01), and group 4 (430.98{+-}98.11/366.71{+-}154.59; p=0.02). No significant differences were found in group 2 (423.57{+-}98.12/383.47{+-}135.88; p=0.06) or group 3 (433.02{+-}116.07/384.16{+-}146.55; p=0.19). Based on the design of this study, alveolar bone grafting was similar to normal bone within 2-7 months postoperatively.

  6. An Analysis of the Frame-Content Theory in Babble of Nine-Month-Old Babies with Cleft Lip and Palate

    Science.gov (United States)

    Stout, Gwendolyn; Hardin-Jones, Mary; Chapman, Kathy L.

    2011-01-01

    The aim of this study was to examine the consonant-vowel co-occurrence patterns predicted by the Frame-Content theory in 16 nine-month-old babies with unrepaired cleft palatecleft lip) and 16 age-matched non-cleft babies. Babble from these babies was phonetically transcribed and grouped according to the intrasyllabic predictions of the theory (labial-central, alveolar-front, and velar-back). Both groups demonstrated the three consonant-vowel co-occurrence patterns predicted by the Frame-Content theory. Other patterns not predicted by the Frame-Content theory emerged as strong patterns as well. PMID:21889772

  7. Diagnostic/genetic sreening - approach for genetic diagnoses and prevention of cleft lip and/or palate.

    Science.gov (United States)

    Natsume, Nagato; Kato, Tomoki; Hayakawa, Toko; Imura, Hideto

    2013-01-01

    The treatment, research and volunteer work for cleft lip and/or palate (CL/P) has been led for over 30 years by our team. Within this period, more than 4,000 cases of CL/P were treated and at the same time, and approximately 400 papers were published as the first or partner researcher in Nature Genetics, New England Journal of Medicine and others. In addition, with $20 million that was donated from companies and laypeople, and the grant from the Japanese government, CL/P centres in many countries and in Japan, the oral and craniofacial congenital anomaly gene bank in our CL/P centre was established by our leadership. In the bank there are genes from approximately more than 8,000 cases. The genes were mapped with Professor Jeffery Murray of Iowa University in the United States, the findings about genetic syndromes such as Van der Woude Syndrome and basal cell nevus syndrome were applied in clinical settings. The genetic counselling section that specialises in the oral and maxillofacial field was established by our effort for the first time in Japan. In this review, our clinical experience and approach for genetic diagnoses and prevention of cleft lip and/or palate will be discussed.

  8. Comparison of videonasoendoscopy and auditory-perceptual evaluation of speech in individuals with cleft lip/palate

    Directory of Open Access Journals (Sweden)

    Paniagua, Lauren Medeiros

    2014-01-01

    Full Text Available Introduction: The velopharyngeal sphincter (VPS is a muscle belt located between the oropharynx and the nasopharynx. Investigations of velopharyngeal function should include an auditory-perceptual evaluation and at least 1 instrument-based evaluation such as videonasoendoscopy. Aim:To compare the findings of auditory-perceptual evaluation (hypernasality and videonasoendoscopy (gap size in individuals with cleft lip/palate. Method: This was a retrospective, cross-sectional study assessing 49 subjects, of both sexes, with cleft lip/palate followed up at the Otorhinolaryngology Service and the Speech Therapy outpatient clinic of Hospital de Clínicas de Porto Alegre (HCPA. The results from the auditory-perceptual evaluation and the videonasoendoscopy test were compared with respect to the VPS gap size. Results: Subjects with moderate/severe hypernasality had more severe velopharyngeal closure impairment than those with a less severe condition. The interaction between hypernasality severity and the presence of other speech disorders (p = 0.035, whether compensatory and/or obligatory, increased the likelihood of having a moderate-to-large gap in the velopharyngeal closure. Conclusions: We observed an association between the findings of these 2 evaluation methods.

  9. 成批唇腭裂患儿的治疗%Treatment in batches for children with cleft lip and palate

    Institute of Scientific and Technical Information of China (English)

    傅跃先; 甘立强; 邱林; 田晓菲; 刘燕; 向代理

    2009-01-01

    Objective:To summarize the experience on treatment in batches for the child patients with cleft lip and palates, including pre-operative preparation, communication with the parents, operative technique, postoperative care and follow-up. Methods: The 745 cases were treated in batches, including 180 cases of cleft lip,373 cases of clef palate and 192 cases of cleft lip companied with cleft palate. Preoperative preparation were completed according to medical treatment criterion.The knowledge of the sequence treatment of cleft lip and palate was informed to the parents. The individual surgery treatment was operated to improve effects in routine way. All cases received the routine postoperative care. Results: All patients left hospital with primary healing of wound. The patients with cleft lip had a good wound healing and a good diaplasis of anatomic sign. The patients with cleft palate had a good wound healing too, without palate fistulas and the uvulas were reconstructed well. The phonetic function was improved to certain extent. The parents of the patients were satisfied. Conclusion: It is feasible to treat in batches the patients with cleft lip and palate in the hospital, which has a good conditions of surgery, anaesthesia and nursing.%目的:总结成批收治唇腭裂患儿过程中,围术期处理与手术治疗的特点和经验.方法:成批收治唇腭裂患儿745例,其中单纯唇裂180例,腭裂373例,唇裂伴腭裂192例.术前准备按规范的医疗程序进行,注重医患沟通.手术按常规方式操作,并寻求个体化处理,以提高整复质量.结果:所有病例均一期愈合出院.唇裂患儿创口愈合好,解剖标志复位.腭裂患儿腭部愈合好,悬雍垂重建良好,无腭瘘发生,语言功能有不同程度改善.患儿家长均感满意.结论:在具备可靠的手术、麻醉与护理条件的单位,成批收治唇腭裂患儿是可行的.

  10. Comparison of dermatoglyphic traits and dental anomalies associated with cleft lip or cleft lip and palate patients with normal healthy children

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    Neha Maheshwari

    2013-01-01

    Full Text Available Background: Dermatoglyphics are considered as a window of congenital abnormalities and is known to be one of the best available diagnostic tools in genetic disorders. Objective: The present study was conducted to observe and compare the differences in the dermatoglyphic patterns between cleft lip/palate (CL/P and normal healthy children and evaluate their associated dental findings. Setting: This is a cross-sectional prevalence study in which dermatoglyphic patterns and dental anomalies of 90 (CL/P and normal healthy children aged 0-15 years were recorded under standard conditions of seating and lighting. Materials and Methods: Dermatoglyphic traits were recorded using ink stamp pad method. Dental findings were recorded through clinical and radiographic examination. Results: The most frequently seen dermatoglyphic trait in the study and control group was loops followed by whorls and arches. A highly significant (P < 0.001 difference between loops in the study and control group and statistically significant difference in the whorls (P = 0.001 were found using Student′s t-test. The comparison of dental anomalies was accomplished using Chi-square test and hypodontia (50% was seen maximum in cleft patients. Conclusion: Any deviation in dermatoglyphics features indicates a genetic etiology.

  11. A clinical and demographic profile of the cleft lip and palate in Sub-Himalayan India: A hospital-based study

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    Jyoti Dvivedi

    2012-01-01

    Full Text Available Objectives: To study the cleft lip and cleft palate in the poverty stricken Sub-Himalayan Garhwal region of India, being a commonly seen congenital abnormality and scarcity of studies about the demography of cleft in this region. Design: A prospective cohort observational case series was performed on 4657 cleft patients at a Tertiary care Hospital in Dehradun, India, over a period of 5 years. Outcome measures: The authors investigated the differences between age and sex with cleft status and family history of clefts, birth order, religion, socioeconomic status, parent literacy, source of information for treatment, haematological investigations showing the status of infection and coagulation in such children and satisfaction after treatment. Results: Seventy-two percent parents of cleft lip patients were illiterate, and only 8% were graduates, the majority of patients were from the low socioeconomic class. The siblings of 1.1% of the cleft patients had similar deformity. Anemia was seen in 83.16% cases which was commonly microcytic hypochromic type and eosinophilia was seen in 25.50% of cases. In the coagulation profile, International Nationalized Ratio was found to be raised in 52.12%. Almost 95% of the families were fully satisfied by the treatment and results. Conclusion: This study will provide baseline information on the status of these less privileged cleft patients in this mountainous region for future reference to health workers.

  12. Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil

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    A.P.C. Brandalize

    2007-06-01

    Full Text Available Non-syndromic cleft lip and palate (CL/P occurs due to interaction between genetic and environmental factors. Abnormalities in homocysteine metabolism may play a role in its etiology due to polymorphisms in genes involved in this pathway. Because of the involvement of MTHFR, MTR and MTRR genes with folate metabolism and the evidence that maternal use of folic acid in early pregnancy reduces the risk for CL/P, we evaluated the influence of their polymorphisms on the etiology of CL/P through a case-control study. The analyses involved 114 non-syndromic phenotypically white children with clefts (case and 110 mothers, and 100 non-affected (control children and their mothers. The polymorphisms 677C>T of MTHFR, 2756A>G of MTR, and 66A>G of MTRR genes were analyzed by PCR-RFLP. Allelic frequencies did not differ from other studies conducted on white populations for MTHFR 677T allele (0.35 and for MTR 2756G allele (0.17, but MTRR 66G allele frequency (0.35 was lower than observed elsewhere. The genotypic distribution of the 677C>T polymorphisms under study did not show significant differences between CL/P patients, their mothers and controls. These results suggest that the alterations of folate metabolism related to these polymorphisms are not involved in clefting in the population under study.

  13. A phonetic investigation of single word versus connected speech production in children with persisting speech difficulties relating to cleft palate.

    Science.gov (United States)

    Howard, Sara

    2013-03-01

    Objective : To investigate the phonetic and phonological parameters of speech production associated with cleft palate in single words and in sentence repetition in order to explore the impact of connected speech processes, prosody, and word juncture on word production across contexts. Participants : Two boys (aged 9 years 5 months and 11 years 0 months) with persisting speech impairments related to a history of unilateral cleft lip and palate formed the main focus of the study; three typical adult male speakers provided control data. Method : Audio, video, and electropalatographic recordings were made of the participants producing single words and repeating two sets of sentences. The data were transcribed and the electropalatographic recordings were analyzed to explore lingual-palatal contact patterns across the different speech conditions. Acoustic analysis was used to further inform the perceptual analysis and to make specific durational measurements. Results : The two boys' speech production differed across the speech conditions. Both boys showed typical and atypical phonetic features in their connected speech production. One boy, although often unintelligible, resembled the adult speakers more closely prosodically and in his specific connected speech behaviors at word boundaries. The second boy produced developmentally atypical phonetic adjustments at word boundaries that appeared to promote intelligibility at the expense of naturalness. Conclusion : For older children with persisting speech impairments, it is particularly important to examine specific features of connected speech production, including word juncture and prosody. Sentence repetition data provide useful information to this end, but further investigations encompassing detailed perceptual and instrumental analysis of real conversational data are warranted.

  14. Anterior maxillary segmental distraction in the treatment of severe maxillary hypoplasia secondary to cleft lip and palate

    Science.gov (United States)

    Li, Hongliang; Dai, Jiewen; Si, Jiawen; Zhang, Jianfei; Wang, Minjiao; Shen, Steve Guofang; Yu, Hongbo

    2015-01-01

    Anterior maxillary segmental distraction (AMSD) is an effective surgical procedure in the treatment of maxillary hypoplasia secondary to cleft lip and palate. Its unique advantage of preserving velopharyngeal function makes this procedure widely applied. In this study, the application of AMSD was described and its long-term stability was explored. Eight patients with severe maxillary hypoplasia secondary to CLP were included in this study. They were treated with AMSD using rigid external distraction (RED) device. Cephalometric analysis was performed twice at three time points for evaluation: before surgery (T1), after distraction (T2), and 2 years after treatment (T3). One-way analysis of variance was used to assess the differences statistically. All the distractions completed smoothly, and maxilla was distracted efficiently. The value of SNA, NA-FH, Ptm-A, U1-PP, overjet and PP (ANS-PNS) increased significantly after the AMSD procedure (P 0.05). Changes of palatopharyngeal depth and soft palatal length were insignificant. AMSD with RED device provided an effective way to correct maxillary hypoplasia secondary to CLP, extended the palatal and arch length, avoided damage on velopharyngeal closure function and reduced the relapse rate. It is a promising and valuable technique in this potentially complicated procedure. PMID:26629107

  15. Self-esteem, coping styles, and quality of life in polish adolescents and young adults with unilateral cleft lip and palate

    NARCIS (Netherlands)

    Pisula, E.; Lukowska, E.; Fudalej, P.S.

    2014-01-01

    Objectives : To evaluate self-esteem, coping styles, and health-related quality of life and their relationships in Polish adolescents and young adults with unilateral complete cleft lip and palate and related sex differences. Design and Participants : Self-report questionnaires measuring self-esteem

  16. Phonological development of toddlers with unilateral cleft lip and palate who were treated with and without infant orthopedics: a randomized clinical trial.

    NARCIS (Netherlands)

    Konst, E.M.; Rietveld, T.; Peters, H.F.M.; Prahl-Andersen, B.

    2003-01-01

    OBJECTIVE: To investigate the phonological development of toddlers from 2 to 3 years of age with complete unilateral cleft lip and palate (UCLP) treated during the first year of life with and without infant orthopedics (IO). DESIGN: In a randomized clinical trial (Dutchcleft), two groups of children

  17. Is Presurgery and Early Postsurgery Performance Related to Speech and Language Outcomes at 3 Years of Age for Children with Cleft Palate?

    Science.gov (United States)

    Chapman, Kathy

    2004-01-01

    This study examined the relationship between presurgery speech measures and speech and language performance at 39 months as well as the relationship between early postsurgery speech measures and speech and language performance at 39 months of age. Fifteen children with cleft lip and palate participated in the study. Spontaneous speech samples were…

  18. 胎儿期唇腭裂的诊断和治疗%Diagnosis and treatment of fetal cleft lip and palate

    Institute of Scientific and Technical Information of China (English)

    丛林; 赵保静

    2011-01-01

    The occurrence of fetal cleft lip and palate, related factors, diagnosis and treatment are reviewed in this article. We summary the relationship between the incidence of chromosomal abnormalities and fetal cleft lip and palate. As the improvement of prenatal diagnosis techniques (ultrasound, MRI,etc. ), more and more fetals of cleft lip and palate are dioagnosed. Fetoscope and other technologies also contribute to the development of fetal treatment. Intrauterine treatment of cleft lip and palate is a major trend. But a lot of research is still confined to the stage of using animal models.%文章概述了胎儿期唇腭裂的发生、相关因素、诊断和治疗.介绍了胎儿唇腭裂与染色体异常发生率的关系.随着产前诊断技术(超声、MRI等)的提高,越来越多的胎儿唇腭裂得到诊断.胎儿镜等技术促进了胎儿宫内治疗的发展,唇腭裂的宫内治疗亦是一个趋势,但目前大量的研究仍然是局限在动物模型.

  19. Gender Issues in Parenting Cleft Lip and Palate Babies in Southern Nigeria: A Study of the University of Benin Teaching Hospital

    Science.gov (United States)

    Umweni, A. A.; Okeigbemen, S. A.

    2009-01-01

    There is a scarcity of studies on gender issues in parenting cleft lip and palate (CLAP) babies. The birth of a CLAP child presents an immediate visible handicap that is distressing to parents. The aims and objectives of this study are to determine the influence of gender on the attitude of parents on the birth of CLAP babies, to articulate the…

  20. Causal Inferences from Mining ToxCast Data and the Biomedical Literature for Molecular Pathways and Cellular Processes in Cleft Palate (SOT)

    Science.gov (United States)

    Sixty-five chemicals in the ToxCast high-throughput screening (HTS) dataset have been linked to cleft palate based on data from ToxRefDB (rat or rabbit prenatal developmental toxicity studies) or from literature reports. These compounds are structurally diverse and thus likely to...

  1. Current Training and Continuing Education Needs of Preschool and School-Based Speech-Language Pathologists regarding Children with Cleft Lip/Palate

    Science.gov (United States)

    Bedwinek, Anne P.; Kummer, Ann W.; Rice, Gale B.; Grames, Lynn Marty

    2010-01-01

    Purpose: The purpose of this study was to obtain information regarding the education and experience of preschool and school-based speech-language pathologists (SLPs) regarding the assessment and treatment of children born with cleft lip and/or palate and to determine their continuing education needs in this area. Method: A 16-item mixed-methods…

  2. RETINOIC ACID INDUCTION OF CLEFT PALATE IN EGF AND TGF-ALPHA KNOCKOUT MICE: STAGE SPECIFIC INFLUENCES OF GROWTH FACTOR EXPRESSION

    Science.gov (United States)

    ABBOTT, B. D., LEFFLER, K.E. AND BUCKALEW, A.R, Reproductive Toxicology Division, NHEERL, ORD, US EPA, Research Triangle Park, North Carolina. Retinoic acid induction of cleft palate (CP) in EGF and TGF knockout mice: Stage specific influences of growth factor expression.<...

  3. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C;

    2016-01-01

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP h...

  4. Facial esthetics in children with unilateral cleft lip and palate 3 years after alveolar bonegrafting combined with rhinoplasty between 2 and 4 years of age

    NARCIS (Netherlands)

    Offert, B.; Janiszewska-Olszowska, J.; Dudkiewicz, Z.; Brudnicki, A.; Katsaros, C.; Fudalej, P.S.

    2013-01-01

    OBJECTIVES: To evaluate facial esthetics in patients with unilateral cleft lip and palate (UCLP) after alveolar bone grafting combined with rhinoplasty between 2 and 4 years of age. DESIGN: Retrospective case-control study. SETTING: The Department of Pediatric Surgery, Institute of Mother and Child,

  5. Facial esthetics in children with unilateral cleft lip and palate 3 years after alveolar bonegrafting combined with rhinoplasty between 2 and 4 years of age.

    NARCIS (Netherlands)

    Offert, B.; Janiszewska-Olszowska, J.; Dudkiewicz, Z.; Brudnicki, A.; Katsaros, C.; Fudalej, P.S.

    2013-01-01

    OBJECTIVES: To evaluate facial esthetics in patients with unilateral cleft lip and palate (UCLP) after alveolar bone grafting combined with rhinoplasty between 2 and 4 years of age. DESIGN: Retrospective case-control study. SETTING: The Department of Pediatric Surgery, Institute of Mother and Child,

  6. Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

    Science.gov (United States)

    Enriquez, Annabelle; Krivanek, Michael; Flöttmann, Ricarda; Peters, Hartmut; Wilson, Meredith

    2016-09-01

    We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post-delivery examination showed split hand and foot malformation, and bilateral cleft lip and palate. These findings are consistent with ectrodactyly-ectodermal dysplasia-cleft lip with or without cleft palate syndrome (EEC). Both fetuses were found to have the same missense mutation in TP63 (c.1051G > A; p.D351N). Parental clinical examinations and lymphocyte DNA analyses were normal. This report illustrates the potential severity of urogenital defects in TP63-related disorders, which may be detectable with fetal ultrasonography. It highlights the need to counsel for the possibility of germline mosaicism in TP63-associated disorders. © 2016 Wiley Periodicals, Inc. PMID:27351625

  7. Activation of Notch1 inhibits medial edge epithelium apoptosis in all-trans retinoic acid-induced cleft palate in mice.

    Science.gov (United States)

    Zhang, Yadong; Dong, Shiyi; Wang, Weicai; Wang, Jianning; Wang, Miao; Chen, Mu; Hou, Jinsong; Huang, Hongzhang

    2016-08-26

    Administration of all-trans retinoic acid (atRA) on E12.0 (embryonic day 12.0) leads to failure of medial edge epithelium (MEE) disappearance and cleft palate. However, the molecular mechanism underlying the relationship between atRA and MEE remains to be identified. In this study, atRA (200 mg/kg) administered by gavage induced a 75% incidence of cleft palate in C57BL/6 mice. Notch1 was up-regulated in MEE cells in the atRA-treated group compared with the controls at E15.0, together with reduced apoptosis and elevated proliferation. Next, we investigated the mechanisms underlying atRA, Notch1 and MEE degradation in palate organ culture. Our results revealed that down-regulation of Notch1 partially rescued the inhibition of atRA-induced palate fusion. Molecular analysis indicated that atRA increased the expression of Notch1 and Rbpj and decreased the expression of P21. In addition, depletion of Notch1 expression decreased the expression of Rbpj and increased the expression of P21. Moreover, inhibition of Rbpj expression partially reversed atRA-induced MEE persistence and increased P21 expression. These findings demonstrate that atRA inhibits MEE degradation, which in turn induces a cleft palate, possibly through the Notch1/RBPjk/P21 signaling pathway. PMID:27343556

  8. Prenatal Diagnosis of Cleft Palates Through Oral Fissure%经口裂超声扫查诊断胎儿腭裂的探讨

    Institute of Scientific and Technical Information of China (English)

    尹春林; 罗琼秀; 刘燕飞; 贺新兰; 黄金娟; 康秋香; 杨引洪

    2012-01-01

    Objective To study the two dimensional ultrasonic diagnosis of fetus cleft palates through the oral fissure. Methods Every fetus was scaned the hard palate and soft palate through oral fissure and submaxilla triangle except the detailed rountine ultrasound sacn. Results The display rates of hard palate and soft palate is 94. 82%(238/ 251) and 91. 63% (230/251)respectively by the sound beam through oral fissure, and the display rates of hard palate and soft palate is 13. 15%(33/251) ,14. 34% (36/251)respectively by the sound beam through submaxilla triangle. The results demonstrated that display rates of hard palate and soft palate be significantly higher by the sound beam through oral fissure than that through submaxilla triangle. Conclusions The examination of cleft palate through the fetal oral fissure can improve the display rates of the hard palate and soft palate, and provide definitive diagnosis and degree of cleft palate.%目的 探讨二维超声经胎儿口裂扫查诊断腭裂的价值.方法 对胎儿完成超声系统检查后,分别经胎儿口裂及颌下三角扫查硬腭及软腭.结果 经口裂扫查法胎儿硬腭显示率94.82% (238/251)、软腭显示率91.63% (230/251).经颌下三角扫查法胎儿硬腭显示率13.15% (33/251)、软腭显示率14.34% (36/251).结果显示经口裂扫查法对软硬腭的显示率显著高于经颌下三角扫查法.结论 经口裂扫查法能提高硬腭及软腭的显示率,明确有无腭裂及其程度,能提高腭裂的产前检出率.

  9. Population-based study of birth prevalence and factors associated with cleft lip and/or palate in Taiwan 2002-2009.

    Directory of Open Access Journals (Sweden)

    Ruoh-Lih Lei

    Full Text Available BACKGROUND: Facial cleft deformities, including cleft lip with or without cleft palate (CL/P and cleft palate (CP, are common congenital birth anomalies, especially in Asia. This study aimed to analyze the prevalence of CL/P and CP and to identify associated factors in Taiwan. METHODS: This population-based epidemiological study retrospectively analyzed birth data obtained from the Department of Health in Taiwan for years 2002-2009. Frequency distribution, percentages and related predictors were investigated, and findings were presented by types of cleft deformities. Logistic regression analysis was performed to identify factors associated with cleft deformities. RESULTS: Overall prevalence of cleft deformities among 1,705,192 births was 0.1% for CL/P and 0.04% for CP over the 8-year study period. Higher prevalence of CL/P or CP was observed with multiple pregnancies, being male for CL/P, being female for CP, gestational age ≤37 weeks and lower birth weight (<1.5 kg. Both CL/P and CP were significantly associated with gestational age <37 weeks and birth weight<1.5 kg (all P <0.0001. CL/P was significantly associated with multiple parities (P = 0.0004-0.002. Male newborns and female newborns were significantly associated with CL/P and CP, respectively (both P<0.0001. CONCLUSIONS: Overall prevalence for congenital cleft deformities in study subjects was 0.1%, in keeping with high rates in Asia. Results suggest the need for awareness and early identification of those at high risk for cleft deformities, including newborns with gestational age <37 weeks, weighing <1.5 kg at birth and women with multiple parities, as a potential strategy to counter long-term adverse effects on speech and language in this population.

  10. Researches on optimizing treatment of Chinese cleft lip and/or palate

    Institute of Scientific and Technical Information of China (English)

    Bing Shi; Qian Zheng; Yang Li; Sheng Li; Yan Wang; Heng Yin; Wei Zheng

    2008-01-01

    @@ We all know that the development of the sequential therapy ameliorates the clefts treatment. Modes and methods of the sequential therapy differ among different countries and places because of the differences of economy, medical system and sanitary status.

  11. Effect of vitamin B12 on cleft palate induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin and dexamethasone in mice.

    Science.gov (United States)

    Zhao, Shu-Fan; Chai, Mao-Zhou; Wu, Min; He, Yong-Hong; Meng, Tian; Shi, Bing

    2014-03-01

    The purpose of this study was to investigate the effect of vitamin B12 on palatal development by co-administration of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) and dexamethasone (DEX). We examined the morphological and histological features of the palatal shelf and expression levels of key signaling molecules (transforming growth factor-β3 (TGF-β3) and TGF-β type I receptor (activin receptor-like kinase 5, ALK5)) during palatogenesis among a control group (Group A), TCDD+DEX exposed group (Group B), and TCDD+DEX+vitamin B12 exposed group (Group C). While we failed to find that vitamin B12 decreased the incidence of cleft palate induced by TCDD+DEX treatment, the expression levels of key signaling molecules (TGF-β3 and ALK5) during palatogenesis were significantly modulated. In TCDD+DEX exposed and TCDD+DEX+vitamin B12 exposed groups, palatal shelves could not contact in the midline due to their small sizes. Our results suggest that vitamin B12 may inhibit the expression of some cleft palate inducers such as TGF-β3 and ALK5 in DEX+TCDD exposed mice, which may be beneficial against palatogenesis to some degree, even though we were unable to observe a protective role of vitamin B12 in morphological and histological alterations of palatal shelves induced by DEX and TCDD.

  12. A Comparative Study of Facial Asymmetry in Philippine, Colombian, and Ethiopian Families with Nonsyndromic Cleft Lip Palate

    Directory of Open Access Journals (Sweden)

    Liliana Otero

    2012-01-01

    Full Text Available Objective. To compare the asymmetry displayed by Philippine, Colombian, and Ethiopian unaffected parents of patients with nonsyndromic cleft palate (NSCLP and a control population. Methods. Facial measurements were compared between unaffected parents of NSCLP patients and those in the control group for three populations from South America, Asia, and Africa by anthropometric and photographic measurements. Fluctuating and directional asymmetries, height and width proportions, were analyzed and compared. Results. Fluctuating asymmetries (ear length, middle line to Zigion perpendicular for left and right sides and variations in the facial thirds demonstrated statistical significance in the study group of unaffected parents from Colombia and Philippines, while increased interorbital distance was evident in the unaffected Ethiopian parents of NSCLP patients. Conclusions. The facial differences in unaffected parents could indicate an underlying genetic liability. Identification of these differences has relevance in the understanding of the etiology of NSCLP.

  13. Doubts of caregivers of children with cleft lip and palate on postoperative care after cheiloplasty and palatoplasty

    Directory of Open Access Journals (Sweden)

    Armando dos Santos Trettene

    2014-12-01

    Full Text Available Objective To identify the main doubts of caregivers of children with cleft lip and palate on postoperative care after cheiloplasty and palatoplasty. Method Cross-sectional study carried out in a reference hospital, between September and November 2012. The sample was composed of 50 individuals divided in two groups, of which 25 caregivers of children submitted to cheiloplasty, and 25 of children submitted to palatoplasty. The doubts were identified by an interview applied during the preoperative nursing consultation and were then categorized by similarity. Descriptive statistics was used for analysis of the outcomes. Results Concerning cheiloplasty, the doubts were related to feeding (36%, hygiene and healing (24% each, pain and infection (8% each. With regard to palatoplasty, the doubts were related to feeding (48%, hygiene (24%, pain (16%, bleeding (8% and infection (4%. Conclusion The study evidenced the concern of caregivers in relation to feeding and care of the postoperative wound.

  14. Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate.

    Science.gov (United States)

    Mitra, Amit K; Stessman, Holly A F; Schaefer, Robert J; Wang, Wen; Myers, Chad L; Van Ness, Brian G; Beiraghi, Soraya

    2016-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital birth defects. NSCL/P is a complex multifactorial disease caused by interactions between multiple environmental and genetic factors. However, the causal single nucleotide polymorphism (SNP) signature profile underlying the risk of familial NSCL/P still remains unknown. We previously reported a 5.7-Mb genomic region on chromosome 18q21.1 locus that potentially contributes to autosomal dominant, low-penetrance inheritance of NSCL/P. In the current study, we performed exome sequencing on 12 familial genomes (six affected individuals, two obligate carriers, and four seemingly unaffected individuals) of a six-generation family to identify candidate SNPs associated with NSCL/P risk. Subsequently, targeted bidirectional DNA re-sequencing of polymerase chain reaction (PCR)-amplified high-risk regions of MYO5B gene and sequenom iPLEX genotpying of 29 candidate SNPs were performed on a larger set of 33 members of this NSCL/P family (10 affected + 4 obligate carriers + 19 unaffected relatives) to find SNPs significantly associated with NSCL/P trait. SNP vs. NSCL/P association analysis showed the MYO5B SNP rs183559995 GA genotype had an odds ratio of 18.09 (95% Confidence Interval = 1.86-176.34; gender-adjusted P = 0.0019) compared to the reference GG genotype. Additionally, the following SNPs were also found significantly associated with NSCL/P risk: rs1450425 (LOXHD1), rs6507992 (SKA1), rs78950893 (SMAD7), rs8097060, rs17713847 (SCARNA17), rs6507872 (CTIF), rs8091995 (CTIF), and rs17715416 (MYO5B). We could thus identify mutations in several genes as key candidate SNPs associated with the risk of NSCL/P in this large multi-generation family. PMID:27242896

  15. Association of Single Nucleotide Polymorphisms in IRF6 and TGFA Genes With Nonsyndromic Cleft Lip With Or Without Cleft Palate in Chinese Patients

    Institute of Scientific and Technical Information of China (English)

    Ya Shen; Yugui Cu; Weidong Wan; Xiaoping Zhou; Lu Cheng; Zuhong Lu; Jiayin Liu

    2009-01-01

    Objective:Nonsyndromic cleft lip with or without cleft palate(NSCL/P) is a common birth defect with unclear etiology.Both genetic and environmental factors may contribute to NSCL/P.Many genes have been identified as candidate genes associated with this disease.Interferon regulatory factor6(IRF6) gene and transforming growth factor-a(TGFA) gene seem to be cmcial in the predisposition of NSCL/P.Here we evaluated some single nucleotide polymorphisms(SNPs) loci of TGFA and IRF6 genes in Chinese nuclear families consisting of fathers,mothers and affected offspring with NSCL/P.Methods:Fifty patients of NSCL/P were confirmed by the plastic surgeons.They and their parents were included in the study,all with the informed consents.SNPs loci of TGFA and IRF6 genes were analyzed by microarray technology.Some PCR products were randomly chosen and sequenced to check microarray results.The distribution of gene type and allele frequency between patient group and parents group were compared.Then a Haplotype Relative Risk(HRR) and Transmis-sion Disequilibrium Test(TDT) were performed.Results:The sequences of randomly selected PCR products were all consistent with the microarray results.All loci were in Hardy-Weinberg equilibrium.There were no significant differences in the distribution of genotypes and alleles between patients and their parents.Using HRR and TDT analyses the V2741 of IRF6 was associated with NSCL/P,while another SNP locus of IRF6 was not.Strong evidence of linkage disequilibrium was found between the2 SNP loci of TGFA and disease with the HRR analysis,but not with the TDT analysis.Conclusion:Our study confirms the contribution of IRF6 in the etiology of NSCL/P in populations of Asian ancestry.The association of TGFA with NSCL/P requires further research.

  16. Fine-mapping of 18q21.1 locus identifies single nucleotide polymorphisms associated with nonsyndromic cleft lip with or without cleft palate

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    AMIT KUMAR MITRA

    2016-05-01

    Full Text Available Nonsyndromic cleft lip with or without cleft palate (NSCL/P is one of the most common congenital birth defects. NSCL/P is a complex multifactorial disease caused by interactions between multiple environmental and genetic factors. However, the causal single nucleotide polymorphism (SNP signature profile underlying the risk of familial NSCL/P still remains unknown. We previously reported a 5.7-Mb genomic region on chromosome 18q21.1 locus that potentially contributes to autosomal dominant, low-penetrance inheritance of NSCL/P. In the current study, we performed exome sequencing on 12 familial genomes (6 affected individuals, 2 obligate carriers, and 4 seemingly unaffected individuals of a six-generation family to identify candidate SNPs associated with NSCL/P risk. Subsequently, targeted bidirectional DNA re-sequencing of polymerase chain reaction (PCR-amplified high-risk regions of MYO5B gene and sequenom iPLEX genotpying of 29 candidate SNPs were performed on a larger set of 33 members of this NSCL/P family (10 affected + 4 obligate carriers + 19 unaffected relatives to find SNPs significantly associated with NSCL/P trait. SNP versus NSCL/P association analysis showed the MYO5B SNP rs183559995 GA genotype had an odds ratio of 18.09 (95% Confidence Interval=1.86-176.34; gender-adjusted Pvalue=0.0019 compared to the reference GG genotype. Additionally, the following SNPs were also found significantly associated with NSCL/P risk: rs1450425 (LOXHD1, rs6507992 (SKA1, rs78950893 (SMAD7, rs8097060, rs17713847 (SCARNA17, rs6507872 (CTIF, rs8091995 (CTIF and rs17715416 (MYO5B.We could thus identify mutations in several genes as key candidate SNPs associated with the risk of NSCL/P in this large multi-generation family.

  17. Adults' Narratives of Growing up With a Cleft Lip and/or Palate: Factors Associated With Psychological Adjustment.

    Science.gov (United States)

    Stock, Nicola Marie; Feragen, Kristin Billaud; Rumsey, Nichola

    2016-03-01

    Background Growing up with a cleft lip and/or palate presents a number of challenges for those affected and their families. Understanding why some individuals cope well while others struggle is key to psychological research in this field. A better appreciation of the factors and processes that contribute to psychological adjustment to cleft lip and/or palate (CL/P) from the patient perspective would be of value to both researchers and clinicians. Design Qualitative data elicited from individual interviews with 52 adults born with CL/P. Results Inductive thematic analysis identified three main themes: "background" factors (age, gender, sexual orientation, culture, additional conditions, socioeconomic status, and adoption), "external" factors (treatment autonomy, familial coping and support, salience, public understanding, psychological input, and peer support), and "internal" psychological factors (perceptions of difference, noticeability and teasing, social confidence, internalization of beauty ideals, valence, expectations of treatment, responding to challenges, social comparisons, acceptance, faith, dispositional style, and recognition of strengths and positive growth). Conclusions The number and breadth of factors identified in this study are testament to the importance of psychology in the field of CL/P and may offer guidance in relation to developing and assessing the value of psychological interventions. There is a clear role for psychologists in tackling appearance-related concerns, designing materials, supporting patient decision making, and improving social interaction, as well as providing specialist psychological support. The findings illustrate the potential degree of individual variation in perspectives and offer insight into the conflicting results found within current literature. PMID:25650758

  18. 腭裂相关基因mcprl在小鼠腭突发育及腭裂发生中的表达研究%Expression Pattern of Mouse Cleft Palate Related Gene 1 Between Normal Murine Palatal Shelves and Cleft Palatal Ones

    Institute of Scientific and Technical Information of China (English)

    轩东英; 章锦才; 谢宝仪

    2011-01-01

    目的 检测mcprl基因的蛋白在正常腭突及小鼠腭裂模型腭突发育中的时空表达模式.方法 实验组管饲含全反式维甲酸的植物油诱导建立小鼠腭裂模型,对照组小鼠管饲植物油.2组取胎龄12,13,14,16 d的胎鼠各3只,包埋切片,HE染色观察2组胎鼠腭部发育的形态学变化,免疫组织化学方法 观察MCPRI蛋白在2组胎鼠腭突中的表达差异.结果 成功建立小鼠腭裂模型.切片HE染色观察发现实验组双侧腭突体积较对照组小,两侧腭突未接触;而对照组聘突融合,腭骨形成.免疫组织化学检查结果 表明对照组小鼠胎龄12 d时MCPRI蛋白在腭突上皮细胞呈强阳性表达;而实验组小鼠胎龄12 d时腭突间充质细胞内MCPRI蛋白的表达较强,实验组胎龄16 d小鼠仅在上皮细胞附近的间充质细胞中有阳性表达.同一时间点比较,MCPRI蛋白的表达在实验组均强于对照组(P<0.05).结论 MCPRI蛋白的表达变化随腭部发育存在时空表达差异.%Objective To determine the expression pattern of mcprl in murine palatogenesis between the normal mu-rine palatal shelves and the cleft palatal ones. Methods The murine embryonic model with cleft palate was established by inducing with retinoic acid. Immunohistochemical staining was used to detect the expression of mcprl gene during the murine embryonic development. Results The embryonic mouse with cleft palate was established successfully. At embryonic day 12 (E12), when palatal shelves have elongated and grown vertically, MCPR1 was expressed strongly in epithelial cells in normal palatal shelves, and in mesenchymal cells in cleft palatal shelves. At E16, MCPR1 was expressed in the mesenchymal cells near the epithelial components. At the corresponding time points, the expression of MCPR1 protein was stronger in normal palatal shelves than in cleft ones respectively. Conclusion The expression of MCPR1 protein was different between the normal and the cleft palate

  19. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

    Science.gov (United States)

    Leslie, Elizabeth J.; Liu, Huan; Carlson, Jenna C.; Shaffer, John R.; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A.; Jain, Deepti; Laurie, Cathy C.; Doheny, Kimberly F.; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R.; Neiswanger, Katherine; Standley, Jennifer; Czeizel, Andrew E.; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G.; Lie, Rolv T.; Wilcox, Allen; Romitti, Paul A.; Field, L. Leigh; Padilla, Carmencita D.; Cutiongco-de la Paz, Eva Maria C.; Lidral, Andrew C.; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Castilla, Eduardo E.; Mereb, Juan C.; Poletta, Fernando A.; Orioli, Iêda M.; Carvalho, Flavia M.; Hecht, Jacqueline T.; Blanton, Susan H.; Buxó, Carmen J.; Butali, Azeez; Mossey, Peter A.; Adeyemo, Wasiu L.; James, Olutayo; Braimah, Ramat O.; Aregbesola, Babatunde S.; Eshete, Mekonen A.; Deribew, Milliard; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M.; Moreno, Lina; Cornell, Robert A.; Murray, Jeffrey C.; Marazita, Mary L.

    2016-01-01

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized. To identify such risk factors, we performed a genome-wide association study of this disorder. We discovered a genome-wide significant association with a missense variant in GRHL3 (p.Thr454Met [c.1361C>T]; rs41268753; p = 4.08 × 10−9) and replicated the result in an independent sample of case and control subjects. In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1–16.8; OR = 2.16, 95% CI 1.43–3.27, respectively). In luciferase transactivation assays, p.Thr454Met had about one-third of the activity of wild-type GRHL3, and in zebrafish embryos, perturbed periderm development. We conclude that this mutation is an etiologic variant for nonsyndromic CP and is one of few functional variants identified to date for nonsyndromic orofacial clefting. This finding advances our understanding of the genetic basis of craniofacial development and might ultimately lead to improvements in recurrence risk prediction, treatment, and prognosis. PMID:27018472

  20. Toward a reconsideration of inclusion and exclusion criteria in cleft lip and palate: implications for psychological research.

    Science.gov (United States)

    Feragen, Kristin Billaud; Stock, Nicola Marie; Rumsey, Nichola

    2014-09-01

    Background : This article investigates the prevalence of conditions that affect cognitive and/or psychosocial functioning in 10-year-old children born with a cleft lip and/or palate (CL/P) and explores how the presence of such additional difficulties may affect the reporting of outcomes in psychological research. Design : Cross-sectional data derived from routine psychological assessments. Setting : Centralized treatment, Norway. Participants : Data on cleft type and additional conditions were collected for 754 children with CL/P from 11 consecutive birth cohorts. Data on psychological adjustment were collected for three consecutive birth cohorts (n = 169). Main Outcome Measures : The Strengths and Difficulties Questionnaire (SDQ), completed by children and parents. Results : A total of 240 children (32%) in the sample had an additional condition, such as developmental delay, attention deficit/hyperactivity disorder, or a specific language impairment or dyslexia. Analysis of SDQ scores using conventional exclusion criteria (approach 1) was compared with a second method (approach 2), which included all children and categorized them according to the presence or absence of additional conditions. Significant variation in profiles of psychosocial adjustment was found depending on the approach to exclusion. Conclusions : The presence of additional conditions in a sample may affect results and subsequently the conclusions drawn in relation to the psychosocial adjustment of children born with CL/P. The present study emphasizes the importance of careful assessments and reporting of all associated conditions, in order to improve the understanding of the impact of a cleft and the consequences of associated conditions in this population.

  1. Etiology and genetic factors in clefts of lip and/or palate reported at children′s hospital, Lahore, Pakistan

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    Muhammad Yaqoob

    2013-01-01

    Full Text Available The etiology of cleft lip (CL and/or cleft palate (CP has been extensively studied in industrialized countries and is suggested to be heterogeneous with increasing evidence that both genetic and environmental factors are operating. To evaluate this assertion in a developing country like Pakistan, a case finding cross-sectional study was completed from 1 st July 2010 to 31 st May 2011 for 100 cases of CL and/or CP referred to the Genetic Clinic of the Children′s Hospital, Lahore, Pakistan. A clinical examination followed by necessary diagnostic work-up was completed for each case. The cause of CL and/or CP was clear in 18% of the children ( n = 18. Environmental causes were found in 6 children (four mothers developed hyperthermia during the 2 nd month of gestation, one mother was diabetic, and one mother was a known case of epilepsy and took sodium valproate throughout her pregnancy. Six children were suffering from known genetic malformation syndromes (each with Jarcho-Levin syndrome, Oral-Facial-Digital syndrome type XI, Oral-Duplication syndrome, Kabuki syndrome, Fronto-nasal dysplasia and Nager syndrome. Novel chromosomal aberrations were identified in 2 children. In 82% of the children ( n = 82 the cause of oro-facial clefts remained unknown. Impact of gender and consanguinity on the development of CL and/or CP was also studied. Prevalence of CP was significantly more among female children as compared to that in males ( P < 0.05. Associated anomalies were present in 18% of the cases, anomalies of the craniofacial region being the most common. These findings were compared with regional and international studies.

  2. TBX22基因变异与国人部分人群唇腭裂发病的关系%TBX22 Mutation Associated with Non-syndromic Cleft Lip and/or Cleft Palate in the Chinese Population

    Institute of Scientific and Technical Information of China (English)

    徐晨; 乌丹旦; 王国民; 梁赟; 杨育生

    2013-01-01

    Objective:This study purposed to investigate TBX22 gene population profile in Chinese patients and families with cleft lip and/or cleft palate (CL/P),and examine whether mutations or genetic polymorphisms in TBX22 are related to the formation of cleft lip and/or palate.Methods:100 CPI (cleft palate isolated) and 51 CL/P patients were enrolled in the study.TBX22 mutations were revealed by sequencing in patients with different cleft types,and analyzed by using statistical and bioinformatical methods.Results:Five TBX22 variants were found including a hemizygous missense mutation 874G>A (D292N) in a family with cleft lip,one synonymous variant and three single nucleotide alterations in introns.The first is potential pathogenic.Conclusion:The study provided a population profile in Chinese CPI and CL/P patients,and confirmed the important role of TBX22 in patients with cleft lip accompanied with/without cleft palate.%目的:在中国唇腭裂患者中,对TBX22基因进行检测,研究TBX22基因变异或者多态性与部分中国人群唇腭裂的关系.方法:采用基因测序的方法,在100例唇腭裂患者中进行TBX22基因测序,对得到的变异位点,在正常人中进行验证,并对结果进行生物信息学分析.结果:共发现5个TBX22基因变异位点:876G>A(D292N),72C>T(L24L)和其他3个内含子区域的单核苷酸多态性位点.结论:首次在中国人群唇腭裂患者中进行TBX22基因全部外显子区域及附近序列的测序,得出了中国唇腭裂患者TBX22基因的变异情况.

  3. Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population.

    Science.gov (United States)

    Babu Gurramkonda, Venkatesh; Syed, Altaf Hussain; Murthy, Jyotsna; V K S Lakkakula, Bhaskar

    2016-09-01

    The aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) is complex involving multiple interacting genes and environmental factors. The primary objective of the present study was to investigate the role of TFAP2A gene single nucleotide polymorphisms (SNPs) in the pathogenesis of NSCL/P. In this study, 173 unrelated NSCL/P patients and 176 controls without clefts were genotyped with TFAP2A rs1675414 (Exon 1), rs3798691 (Intron 1), and rs303050 (Intron 4) variants by allele-specific amplification using the KASPar SNP genotyping system. The method of multifactor dimensionality reduction (MDR) was used to analyze gene-gene interactions. TFAP2A polymorphisms are not found to be associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) at either the genotype or allele levels. No linkage disequilibrium (LD) was found between TFAP2A variants. MDR analysis did not show a significant effect of the TFAP2A gene polymorphisms on susceptibility to NSCL/P (p > 0.05). These results suggest that the analyzed variations in TFAP2A gene might not be associated with NSCL/P pathogenesis in south Indian population. PMID:27617216

  4. Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population

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    Venkatesh Babu Gurramkonda

    2016-09-01

    Full Text Available The aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P is complex involving multiple interacting genes and environmental factors. The primary objective of the present study was to investigate the role of TFAP2A gene single nucleotide polymorphisms (SNPs in the pathogenesis of NSCL/P. In this study, 173 unrelated NSCL/P patients and 176 controls without clefts were genotyped with TFAP2A rs1675414 (Exon 1, rs3798691 (Intron 1, and rs303050 (Intron 4 variants by allele-specific amplification using the KASPar SNP genotyping system. The method of multifactor dimensionality reduction (MDR was used to analyze gene-gene interactions. TFAP2A polymorphisms are not found to be associated with non-syndromic cleft lip with or without cleft palate (NSCL/P at either the genotype or allele levels. No linkage disequilibrium (LD was found between TFAP2A variants. MDR analysis did not show a significant effect of the TFAP2A gene polymorphisms on susceptibility to NSCL/P (p > 0.05. These results suggest that the analyzed variations in TFAP2A gene might not be associated with NSCL/P pathogenesis in south Indian population.

  5. Description of the methodology used in an ongoing pediatric care interventional study of children born with cleft lip and palate in South America [NCT00097149

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    Mariona Alejandra

    2006-03-01

    Full Text Available Abstract Background The contribution of birth defects, including cleft lip and palate, to neonatal and infant mortality and morbidity is substantial. As other mortality and morbidity causes including infections, hygiene, prematurity, and nutrition are eradicated in less developed countries, the burden of birth defects will increase proportionally. Methods/Design We are using cleft lip and palate as a sentinel birth defect to evaluate its burden on neonatal and infant health and to assess the effectiveness of systematic pediatric care during the first month and first two years of life in decreasing this burden. The neonatal intervention, consisting of weekly pediatric evaluation and referral to appropriate care, is delivered to about 696 infants born with cleft lip and/or palate in 47 hospitals in South America. Neonatal mortality in this group will be compared to that in a retrospective control group of about 464 infants born with cleft lip and/or palate in the same hospitals. The subgroup of infants with isolated clefts of both the lip and palate (about 264 is also randomized into two groups, intervened and non-intervened, and further followed up over 2 years. Intervened cases are evaluated by pediatricians every three months and referred for appropriate care. The intervened and non-intervened cases will be compared over study outcomes to evaluate the intervention effectiveness. Non-intervened cases are matched and compared to healthy controls to assess the burden of cleft lip and palate. Outcomes include child's neurological and physical development and family social and economic conditions. Discussion Large-scale clinical trials to improve infant health in developing countries are commonly suggested, making it important to share the methods used in ongoing studies with other investigators implementing similar research. We describe here the content of our ongoing pediatric care study in South America. We hope that this may help researchers

  6. Primary septoplasty in the repair of unilateral complete cleft lip and palate

    NARCIS (Netherlands)

    Gosla Reddy, S.; Nagy, K.; Mommaerts, M.Y.; Reddy, R.R.; Bronkhorst, E.M.; Prasad, R.; Kuijpers-Jagtman, A.M.; Berge, S.J.

    2011-01-01

    BACKGROUND: The purpose of this study was to assess and compare nasal symmetry in patients who underwent correction of a complete unilateral cleft lip using the Afroze incision without and with primary septoplasty using a standardized two-dimensional photographic analysis. METHODS: A prospective coh

  7. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP Part 4: Oral Rehabilitation

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    Jose Alberto de Souza FREITAS

    2013-06-01

    Full Text Available Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose of this article is to describe the types of prosthetics treatment, which are performed at HRAC/USP for the rehabilitation of cleft area in adult patients.

  8. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 4: oral rehabilitation.

    Science.gov (United States)

    Freitas, José Alberto de Souza; Almeida, Ana Lúcia Pompéia Fraga de; Soares, Simone; Neves, Lucimara Teixeira das; Garib, Daniela Gamba; Trindade-Suedam, Ivy Kiemle; Yaedú, Renato Yassutaka Faria; Lauris, Rita de Cássia Moura Carvalho; Oliveira, Thais Marchini; Pinto, João Henrique Nogueira

    2013-01-01

    Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose of this article is to describe the types of prosthetics treatment, which are performed at HRAC/USP for the rehabilitation of cleft area in adult patients.

  9. Experimental study on cleft palate repair of rat using rat fetal membrane%鼠胎膜修复大鼠腭裂的实验研究

    Institute of Scientific and Technical Information of China (English)

    张驰; 娜荷雅; 张幸竹; 王丝墨; 唐喜乐; 马振宇; 肖晶; 李武伟

    2013-01-01

    目的 以鼠胎膜对腭裂进行整复手术,研究修复腭裂的效果.方法 建立腭裂动物模型实验.30只SD大鼠按照腭部裂隙大小分为3组,每组10只.a组:长7 mm×宽0.9 mm;b组:长7 mm×宽1.1 mm;c组:长7mm×宽1.3 mm.术后12周处死所有大鼠,观察裂隙变化.手术关闭裂隙实验.10只SD大鼠分为3组.A组大鼠5只,手术造腭裂并以新鲜双层胎膜关闭裂隙;B组大鼠3只,手术造腭裂,令裂隙自行生长;C组2只作为空白对照组.术后4周处死动物,大体观察;制作切片,行组织学观察.结果 腭裂动物模型成功建立,确立b组7mm×1.1 mm为临界缺损.A组大鼠腭裂得到成功修复,口鼻腔黏膜分别愈合,完全覆盖腭裂,镜下见腭裂处口腔黏膜层次清楚,存在黏膜下层,顶部有完整的鼻腔黏膜.结论 鼠胎膜对SD大鼠腭裂具有良好的修复效果.%Objective To explore the feasibility of repairing the defect in cleft palate using fetal membrane in a rat model. Methods To establish the animal model of cleft palate. Thirty SD rats were randomly divided into three groups with 10 rats in each group according to the different size of man - made cleft, group a: 7 mm × 0. 9 mm, group b: 7 mm × 1. 1 mm, group c: 7 mm × 1.3 mm. Animals were sacrificed at the end of 12 weeks and the changes of clefts were compared. Repairing experiment for cleft palate. Ten SD rats were randomly divided into three groups, group A was underwent reduction with 5 rats, group B was only performed model operation with 3 rats, group C was blank with 2 rats. All rats were sacrificed at the end of 4 weeks and the gross and histological observation was respectively carried out. Results The animal model of cleft palate was successfully established. Group b was determined to be the animal model group for critical - sized defect. Cleft palate was repaired successfully in group A with fetal membrane of rat, the structure of palate mucosa was similar to that of the group C in gross

  10. Preliminary study of preventive measures of anterior palatal fistula after operation of cleft palate%腭裂术后腭前瘘防治措施的初步探讨

    Institute of Scientific and Technical Information of China (English)

    彭立红; 古松钢; 谢思田; 唐世杰

    2011-01-01

    Objective To discuss the preventive measures of anterior palatal fistula by modified the operation of cleft palate. Methods For 23 patients of complete cleft palate with alveolar ridge cleft, bilateral mucoperiosteum flap was moved forward as possible so as to close fistula front of hard palate, and incised junction of the hard and soft palate to prolong soft palate and the wound was repaired by buccal mucosal flap.The incidence of anterior palatal fistula and velopharyngeal closure after operation was observed. Results Twenty-three patients were rechecked 1 month after operation ,there was no anterior palatal fistula occurring,10 cases were examined by epipharyngoscope 1 year after operation,the velopharyngeal closure was 90%-100%. Six cases were followed up for 6 months,the velopharyngeal closure was 80%-85%. Conclusions For second-stage operation methods of anterior palatal fistula, there are too many discussions of selection criterias, advantages and disadvantages. If first-stage operation is taken measures to prevent anterior palatal fistula or decrease the diameter of fistula as possible. It reduces percentage of second-stage operation or decreases the difficulty. It should get more attention in the clinical works.%目的 探讨腭裂术后腭前瘘的防治措施.方法 对于23例完全性腭裂伴牙槽嵴裂患者,采用两瓣后退术式时,两侧黏骨膜瓣尽量前移,封闭硬腭前端腔隙,于软硬腭交界处切开,交界处创面以颊肌黏膜瓣覆盖,延长软腭,观察术后腭前瘘发生率及腭咽闭合情况.结果 23例患者,采用以上术式,术后1个月复查,无一例腭前瘘并发症出现,10例术后1年鼻咽镜检查腭咽闭合90%~100%,6例随访6个月,腭咽闭合80%~85%.结论 在一期手术中采取措施避免腭前瘘的发生或尽量缩小瘘口,减少二期手术几率或降低难度,减轻患者痛苦,不失为一种较好的预防措施.

  11. 生物蛋白胶在腭裂整复术中的应用%Application of Fibrin Glue in the Cleft Palate Surgery

    Institute of Scientific and Technical Information of China (English)

    郑俊发; 赵建江; 景向东

    2001-01-01

    Objective To observe the possible effect of Fibrin Glue(FG) onthe healing of wound after cleft palate surgery. Method FG was distributed on the bone surfaces and the lateral palate incisions after suturing the palate flaps. Results 28 of 30 cases got good healing, 2 caces occured ulceration in the area between hard and soft palate but no perforation. Conclusion FG can be appplied in the cleft palate surgery and it is reliable and safe.%目的 观察生物蛋白胶在腭裂整复术创口中的应用对伤口愈合效果的影响。方法 将已配制的生物蛋白胶涂在腭裂双侧松弛切口及裸露创面,达到完全封闭状态。结果 30例腭裂术后28例伤口愈合良好,无出现糜烂,2例于软硬腭交界处口腔粘膜侧有糜烂,但肌层及鼻腔侧粘膜层无裂开,未出现穿孔。结论 生物蛋白胶可通过封闭创口促进伤口愈合,在腭裂整复术中应用可靠、安全。

  12. MRI findings of fetal cleft lip and palate%胎儿唇腭裂的MRI表现

    Institute of Scientific and Technical Information of China (English)

    王光彬; 魏煜龙; 丁蕊; 孙雪芹; 陈立光; 朱向玉; 王翠艳; 张迎华; 王丽娟; 李慧华; 邱秀玲; 曲蕾

    2010-01-01

    Objective To investigate the MR findings of fetal cleft lip (CL) and evaluate the advantages and limitations of MRI in the diagnosis. Methods Twelve pregnant women suspicious of fetal CL/cleft palate(CP) on ultrasonography were enrolled in the study. The findings of ultrasonography, MRI and following-up were compared. Results MRI and ultrasonography detected 12 fetuses with CL/CP. The following-up results showed 1 case with incomplete cleft lip and the other 11 cases with complete cleft lips and cleft palates. MRI and unltrasonography were consistent with the follow-up in CL detection, showing completed or uncompleted soft tissue interruption of the fetal lips with amniotic fluid filling which is high signal on T_2WI. On MRI, CP showed discontinuous of the soft tissue which were interrupted by long T_2 signal and communicating with oral cavity and nasal cavity. MRI missed 1 case and excluded 1 case of CP. Ultrasonography predicted 5 case of CL, excluded 1 CP but missed 6 cases. The accuracy, sensitivity and specificity in detection CL/CP was 91.7% (11/12), 90.9% (10/11), 100% (1/1) for MRI and 50.0% (6/12),45.5% (5/11), 100% (1/1) for ultrasonography, respectively. Conclusion MR imaging had advantage over ultrasonography in detecting CP, MRI is an essential when CP is suspicious on ultrasonography.%目的 探讨MRI诊断胎儿唇腭裂的征象及其优缺点.方法 对12例超声怀疑胎儿唇腭裂的孕妇进行胎儿MR检查,并将超声、MRI及随访结果进行对照.结果 12例孕妇,检出胎儿12例,随访结果显示1例为不完全型唇裂、11例为完全唇裂并合并腭裂.B超和MRI诊断唇裂的结果与随访一致.胎儿唇裂的MRI表现为胎儿唇部软组织连续性不完全或完全中断,内充填羊水,T2WI呈高信号.腭裂的MRI表现为胎儿腭部组织信号不连续、局部被长T_2高信号中断,口腔与鼻腔直接相通.MRI漏诊腭裂1例,正确诊断腭裂10例,正确排除腭裂1例,诊断正确率为91.7%(11/12),

  13. Bilateral ocular coloboma associated with nonsyndromic cleft lip and palate%双眼眼部缺损合并非综合征性唇腭裂

    Institute of Scientific and Technical Information of China (English)

    Pinar Saatci; Aylin Yaman; Mahmut Kaya; Handan Cakmakci; Salih kavukcu; Ali osman Saatci

    2009-01-01

    患儿,男,2mo,非综合征性唇腭裂.检查发现患者下方虹膜缺损,玻璃体盖膜,视乳头和脉络膜缺损.核磁共振(MRI)检查显示双侧缺损性小眼球,眼球后囊肿,视神经细.每位唇腭裂患儿需经眼科医师检查以排除可能合并的眼部畸形.%·The authors describe a 2-month-old boy with nonsyndromic cleft lip and palate. On examination, he had bilateral inferior iris colobomas, vitreous veils, optic disc and choroid colobomas. Magnetic resonance imaging(MRI) revealed bilateral colobomatous microphthalmia, retrobulber cysts and thinned optic nerves. Every infant with cleft lip and palate should be examined by an ophthalmologist to detect possible associated ocular abnormalities.

  14. Computer-Assisted Orthognathic Surgery for Patients with Cleft Lip/Palate: From Traditional Planning to Three-Dimensional Surgical Simulation

    Science.gov (United States)

    Lonic, Daniel; Pai, Betty Chien-Jung; Yamaguchi, Kazuaki; Chortrakarnkij, Peerasak; Lin, Hsiu-Hsia; Lo, Lun-Jou

    2016-01-01

    Background Although conventional two-dimensional (2D) methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D) simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method. Patients and Methods This prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years). All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment. Results 83.3% of 2D plans were modified, mostly concerning yaw (63.3%) and midline (36.7%) adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation. Conclusion Based on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is

  15. Computer-Assisted Orthognathic Surgery for Patients with Cleft Lip/Palate: From Traditional Planning to Three-Dimensional Surgical Simulation.

    Directory of Open Access Journals (Sweden)

    Daniel Lonic

    Full Text Available Although conventional two-dimensional (2D methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method.This prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years. All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment.83.3% of 2D plans were modified, mostly concerning yaw (63.3% and midline (36.7% adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation.Based on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is regularly missed in conventional 2D

  16. An observational study of the feasibility of Airtraq guided intubations with Ring Adair Elvin tubes in pediatric population with cleft lip and palate

    Science.gov (United States)

    Sharma, Ashima; Durga, Padmaja; Gurajala, Indira; Ramchandran, Gopinath

    2015-01-01

    Context: The airway management requires refined skills and technical help when associated with cleft lip and palate. Airtraq has improved our airway management skills and has been successfully used for rescue intubation in difficult pediatric airways. Aims: This study was to evaluate the efficacy of Airtraq as the primary intubation device in patients with cleft lip and palate. The study adheres to the STrengthening the Reporting of OBservational Studies Epidemiology Statement. Subjects and Methods: A total of 85 children posted consecutively for lip and palate repair were enrolled. Children were intubated with Ring Adair Elvin (RAE) tube using size 1 and 2 of Airtraq device. The design of Airtraq has an anatomical limitation to hold RAE tubes. The preformed bend of the tube was straightened with a malleable stylet. The intubations were assessed for device manipulations and time taken for glottis visualization and intubation, airway complications such as bleeding, laryngospasm and failed intubations. Statistical Analysis Used: The outcome data were reported as numbers and percentages or range with identified median value, where applicable. Results: The success rate of Airtraq guided intubations was 98.21%. The cumulative insertion times and intubation times were 31.50 ± 12.57 s and 48.04 ± 35.73 s respectively. Airtraq manipulations were applied in 25.45% subjects. Conclusions: The presence of cleft lip or palate did not hamper the insertion of Airtraq. The use of malleable stylet to facilitate the loading of the preformed tube into the guide channel is a simple and efficacious improvisation. Airtraq can be utilized as a primary intubation device in children with orofacial clefts. PMID:26712974

  17. The Importance of Integration of Stakeholder Views in Core Outcome Set Development: Otitis Media with Effusion in Children with Cleft Palate

    OpenAIRE

    Harman, Nicola L.

    2015-01-01

    Background Approximately 75% of children with cleft palate (CP) have Otitis Media with Effusion (OME) histories. Evidence for the effective management of OME in these children is lacking. The inconsistency in outcome measurement in previous studies has led to a call for the development of a Core Outcome Set (COS). Despite the increase in the number of published COS, involvement of patients in the COS development process, and methods to integrate the views of patients and health professiona...

  18. The Importance of Integration of Stakeholder Views in Core Outcome Set Development: Otitis Media with Effusion in Children with Cleft Palate

    OpenAIRE

    Harman, Nicola L.; Bruce, Iain A; Kirkham, Jamie J.; Tierney, Stephanie; Callery, Peter; O'Brien, Kevin; Bennett, Alex M. D.; Chorbachi, Raouf; Hall, Per N; Harding-Bell, Anne; Parfect, Victoria H.; Rumsey, Nichola; Sell, Debbie; Sharma, Ravi; Williamson, Paula R

    2015-01-01

    Background Approximately 75% of children with cleft palate (CP) have Otitis Media with Effusion (OME) histories. Evidence for the effective management of OME in these children is lacking. The inconsistency in outcome measurement in previous studies has led to a call for the development of a Core Outcome Set (COS). Despite the increase in the number of published COS, involvement of patients in the COS development process, and methods to integrate the views of patients and health professionals,...

  19. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) Part 4: Oral Rehabilitation

    OpenAIRE

    Jose Alberto de Souza FREITAS; Ana Lucia Pompeia Fraga de ALMEIDA; SOARES, Simone; NEVES, Lucimara Teixeira das; GARIB, Daniela Gamba; TRINDADE-SUEDAM, Ivy Kiemle; Renato Yassutaka Faria YAEDU; Lauris, Rita de Cassia Moura Carvalho; OLIVEIRA, Thais Marchini; Joao Henrique Nogueira PINTO

    2013-01-01

    Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose ...

  20. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 4: Oral Rehabilitation

    OpenAIRE

    FREITAS, José Alberto de Souza; de Almeida, Ana Lúcia Pompéia Fraga; SOARES, Simone; NEVES, Lucimara Teixeira das; GARIB, Daniela Gamba; TRINDADE-SUEDAM, Ivy Kiemle; YAEDÚ, Renato Yassutaka Faria; LAURIS, Rita de Cássia Moura Carvalho; OLIVEIRA, Thais Marchini; João Henrique Nogueira PINTO

    2013-01-01

    Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose ...

  1. Investigation of psychological needs of parents of children with cleft lip and palate%唇腭裂患儿家长的心理需求调查

    Institute of Scientific and Technical Information of China (English)

    阿依努尔·达吾提; 阿孜古丽; 魏红

    2015-01-01

    目的::了解唇腭裂患儿家长的心理需求,为临床治疗提供基础性资料。方法:通过问卷和访谈的方式,对375例唇腭裂患儿家长进行了解,并对资料进行整理和分析。结果:患儿家长存在着巨大的精神压力,表现为由初期的惊恐、绝望转变为无奈接受现实,对孩子的未来充满了忧虑。结论:唇腭裂患儿家长的心理存在巨大压力,需要医护人员情感支持与良好沟通。%Objective: To understand psychological needs of parents of children with cleft lip and palate, in order to provide a basis for clinical treatment. Methods: The data of 375 parents, whose children had cleft lip and palate, were collected through ques-tionnaire and interview, then summarized and analyzed. Results: The parents, whose children had cleft lip and palate, had psycholog-ical pressure, expressed from being terrified and hopelessness in early age to receiving hopelessly, and were full of anxious for their children's future. Conclusions: These parents, whose children get cleft lip and palate, have great psychological pressure and need e-motional supporting and favorable communication from medical personnels.

  2. Oral health related quality of life in cleft lip and palate patients rehabilitated with conventional prostheses or dental implants

    Science.gov (United States)

    Papi, Piero; Giardino, Rita; Sassano, Pierpaolo; Amodeo, Giulia; Pompa, Giorgio; Cascone, Piero

    2015-01-01

    Objectives: Cleft lip and/or palate (CLP) is the most common congenital craniofacial abnormality, with a prevalence of 9.92 per 10,000 live births. In treating patients with CLP, oral rehabilitation is definitely a very important phase of the treatment in order to improve the patient's oral health related quality of life (OH-QoL). The aim of this retrospective study is to assess the OH-QoL in patients rehabilitated with different prosthetic options, thus comparing the conventional treatments, which include removable partial dentures and fixed partial dentures, with the implant-supported prostheses. Materials and Methods: Sixty-three patients were enrolled in this retrospective survey [44 females (69.84%) and 19 males (30.16%)] with a mean age of 34.93 ± 7.04 years (age range 21–53 years). They were all treated for CLP and rehabilitated with a conventional prosthesis or an implant-supported denture. Two different questionnaires were used in the present study to evaluate patients’ OH-QoL: The Italian version of the 49-item Oral Health Impact Profile (OHIP-49) and the Italian version of the Cleft Evaluation Profile (CEP). Statistical analysis was performed using analysis of variance (ANOVA) test, with a significant P < 0,05. Results: Data analysis revealed that patients rehabilitated with implant-supported dentures and fixed partial dentures showed a good level of satisfaction with their prostheses, scoring low values in the OHIP-49 and high values in the CEP, while subjects with removable partial dentures scored the highest values in the OHIP-49 and the lowest values in the CEP, which means an unsatisfactory feeling (P < 0.05). Conclusions: OH-QoL is a challenging demand for all prosthodontists. Our results show, clearly, that patients rehabilitated with implant-supported dentures are more satisfied compared to subjects with fixed partial dentures and removable partial dentures. PMID:26759802

  3. A modified presurgical orthopedic (nasoalveolar molding) device in the treatment of unilateral cleft lip and palate.

    Science.gov (United States)

    Subramanian, Chitravelu Siva; Prasad, N K K Koteswara; Chitharanjan, Arun B; Liou, Eric Jein Wein

    2016-01-01

    Nasoalveolar molding (NAM) can be done effectively to reshape the nasal cartilage and mold the maxillary dentoalveolar arch before surgical cleft lip repair and primary rhinoplasty. Presurgical NAM helps as an adjunct procedure to enhance the esthetic and functional outcome of the surgical procedures. We have developed a modified NAM device to suit to the needs of the patients coming from distant places for the treatment. This device helps in reducing the number of frequent visits the patient needs to take to the craniofacial center. The purpose of this presentation is to report this treatment technique and discuss its application. PMID:27403068

  4. [Nasal breath recovery and rhinoplasty in cleft lip and palate patient with unilateral choanal atresia].

    Science.gov (United States)

    Chkadua, T Z; Ivanova, M D; Daminov, R O; Brusova, L A; Savvateeva, D M

    2016-01-01

    The paper presents the analysis of clinical case of endoscopic nasal breath restoration and elimination of the secondary cleft lip nasal deformity in 27 years old patient with unilateral choanal atresia and secondary nasal deformity after rhinocheiloplasty. Preoperative examination revealed the absence of nasal breathing on collateral side due to complete bone choanal atresia. Surgical treatment included endoscopic choanal repair, elimination of the secondary nasal deformity, septoplasty, conchotomy and lateroposition of the inferior conchae. The treatment resulted in nasal breath restoration and elimination of nasal deformity. Long-term follow-up at 1 and 12 months post-operatively proved stable positive aesthetic and functional results. PMID:26925564

  5. Application of biomedical fibrin glue in the cleft palate surgery%医用生物蛋白胶在腭裂修复术中的应用

    Institute of Scientific and Technical Information of China (English)

    胡广伟; 廖天安

    2012-01-01

    目的:观察医用生物蛋白胶在腭裂修复术创口中的应用对伤口愈合效果的影响.方法:将已配制的医用生物蛋白胶喷涂在腭裂双侧松弛切口及裸露创面.结果:48例腭裂术后伤口愈合良好,未出现明显伤口出血、糜烂及穿孔.结论:生物蛋白胶可通过封闭创口促进伤口愈合,在腭裂整复术中应用可靠、安全.%Objective To observe the possible effect of biomedical fibrin glue (BFG) on the healing of wound after cleft palate surgery. Methods BFG was distributed on the bone surfaces and the lateral palate incisions after suturing the palate flaps. Results All cases got good healing without ulceration and perforation. Conclusion BFG is safe and reliable in the application of the cleft palate surgery by blocking operative wound and promoting healing.

  6. Parents' age and the risk of oral clefts

    DEFF Research Database (Denmark)

    Bille, C.; Skytthe, A.; Vach, W.;

    2005-01-01

    . METHODS: Among the 1,489,014 live births in Denmark during 1973-1996, there were 1920 children with nonsyndromic cleft lip with or without cleft palate and 956 children with nonsyndromic cleft palate. We used logistic regression to assess the impact of parental age on the occurrence of cleft lip...... with or without cleft palate and cleft palate. Interaction between mother's and father's age was included in the analysis. RESULTS: Separate analyses of mother's and father's age showed that older age was associated with increased risk of both cleft lip with or without cleft palate and cleft palate only....... In a joint analysis, both maternal and paternal ages were associated with the risk of cleft lip with or without cleft palate, but the contribution of each was dependent on the age of the other parent. In the analysis of cleft palate only, the effect of maternal age disappeared, leaving only paternal age...

  7. Secondary alveolar bone grafting in cleft of the lip and palate patients

    Directory of Open Access Journals (Sweden)

    Abhilashaa Walia

    2011-01-01

    Full Text Available Aim: The aim was to restore the function and form of both arches with a proper occlusal relationship and eruption of tooth in the cleft area. Materials and Methods: Eleven patients were selected irrespective of sex and socio-economic status and whose age was within the mixed dentition period. Iliac crest is grafted in cleft area and subsequently evaluated for graft success using study models, and periapical and occlusal radiographs. Results: At the time of evaluation teeth were erupted in the area and good alveolar bone levels were present. Premaxilla becomes immobile with a good arch form and arch continuity. There are no major complications in terms of pain, infection, paraesthesia, hematoma formation at donor site without difficulty in walking. There is no complication in terms of pain, infection, exposure of graft, rejection of graft, and wound dehiscence at the recipient site. Discussion: It is evident that secondary alveolar grafting during the mixed dentition period is more beneficial for patients at the donor site as well as the recipient site. Conclusion: Long-term follow-up is required to achieve maximum advantage of secondary alveolar grafting; the age of the patient should be within the mixed dentition period, irrespective of sex, socio-economic status. It may be unilateral or bilateral.

  8. 152例幼儿期腭裂手术治疗的临床探讨%Clinical Analysis of Treatment of Cleft Palate Repair in Infancy

    Institute of Scientific and Technical Information of China (English)

    阿依努尔·达吾提; 艾克拜尔·阿合买提; 韩洁; 莫红

    2013-01-01

    目的 探讨基层医院在幼儿期开展早期腭裂修复手术的可行性、安全性和成功率等.方法 分析新疆民政康复医院于2009年1月-2011年12月收治152例先天性腭裂患者的临床资料,所有患者术前常规及辅助检查后均行早期腭裂修复手术.手术年龄11个月~4岁,手术方法单侧完全性腭裂采用两大瓣后推术,双侧完全性腭裂采用犁骨瓣加两大瓣后推术,不完全腭裂采用兰氏术式.手术后给予全身抗炎治疗,局部每日漱口清洁,术后第2日给予0.9%氯化钠注射液20 ml、地塞米松注射液3 mg、庆大霉素注射液2ml雾化吸入,预防术后喉头水肿和切口感染.结果 152例先天性腭裂患者中,治愈149例(98.03%),穿孔3例(1.97%)所有病例均一期愈合出院,腭部愈合好,悬雍垂重建良好,语言功能有不同程度改善,患儿家长均感满意.结论 先天性唇腭裂患儿饮食困难,体质差,手术惠儿普遍年龄小在具备可靠的手术麻醉与护理条件的医院收治腭裂患儿是可行的和安全的.在幼儿期开展早期腭裂修复术为临床上腭裂手术的最佳时机.%Objective To investigate feasibility, safety and achievement ratio of early cleft palate repair in early childhood development in basic hospital. Methods Analysis on Xinjiang home rehabilitation hospital between January 2009 and admitted to 152 cases of congenital cleft palate patients with clinical data,all General and after the auxiliary examination before operation in patients with early surgical repair of cleft palate. Surgery 11 months up to 4 years of age,of unilateral complete cleft palate surgery method uses two push the big flap,double cleft palate with Vomer flap and two great after a flap operation,incomplete cleft palate using Orchid' s operation. Systemic anti-inflammatory therapy after the operation,a local daily mouthwash clean,after second day of 0.9% sodium chloride injection 20ml 3mg 2ml aerosol inhalation of

  9. 非综合征型唇腭裂易感基因的研究进展%Recent Advances on Susceptible Gene Loci Involved in Nonsyndromic Cleft Lip and/or Palate

    Institute of Scientific and Technical Information of China (English)

    徐晨

    2012-01-01

    唇腭裂(cleft lip and palate,CLP)是常见的先天性发育畸形,全世界发病率为1/500~1/1 000.我国为唇腭裂高发国家,发病率高达1.82‰,总发生率占我国出生缺陷的14.01%.先天性唇腭裂常分为综合征型唇腭裂(syndromic cleft lip and/or cleft lip,SCL/P)和非综合征型唇腭裂(nonsyndromic cleft lip and/or palate,NSCL/P).由于遗传学与胚胎学上的不同机制,NSCL/P又分为唇裂伴或不伴腭裂(cleft lip with or without palate,CL±P)和单纯腭裂(cleft palate isolated,CPI)两类.与主要为单基因影响的SCL/P不同,NSCL/P是受多对基因和环境因素共同影响的复杂疾病,约占整个唇腭裂的70%.本文对国内外非综合征型唇腭裂相关基因的研究做一综述.

  10. Convivendo com o portador de fissura lábio-palatal: o vivencial da enfermeira Linving together with the porter of cleft Lip and palate: the life of the nurse

    Directory of Open Access Journals (Sweden)

    Wilza Carla Spiri

    1999-03-01

    Full Text Available O presente estudo teve como objetivo compreender o vivencial das enfermeiras na assistência ao portador de fissura lábio-palatal. Para tal utilizamo-nos de uma abordagem qualitativa na vertente da fenomenologia. Para o resgate das falas realizamos entrevistas com nove sujeitos, participantes do estudo, e norteadas pela questão: "Como é para você cuidar/ assistir, pacientes com fissura de lábio e ou palato ?" Os temas que emergiram revelaram a essência do fenômeno na perspectiva da enfermeira, possibilitando, através de um programa de educação continuada, a melhoria da qualidade da assistência.The purpose of this study was to understand the life of nurses in assisting the porter of cleft lip and palate In order to so we decided for a qualitative approach in the methodology of phenomenology. We interviewed nine subjects who took part of this study and their interviews were guided by this question: "How is it like to watch over/ take care of patients with cleft lip and or palate?"; The themes that emerged revealed the essence of the phenomenon in the nurse's perspective searching with the careful meanings to contribute to the improvement of assistance quality, thus offering subsidies to the developmente of a continuos educational program to the nursing team (staff

  11. Research progress on gingival recession adjacent to the cleft in cleft lip and palate%唇腭裂近裂隙区牙龈退缩的研究进展

    Institute of Scientific and Technical Information of China (English)

    祝士雯; 陈振琦

    2013-01-01

      唇腭裂是口腔颌面部最常见的先天性畸形。唇腭裂患者常先天即有膜龈改变,而唇腭裂需接受的综合序列治疗,特别是整形手术可进一步加重其膜龈改变。在膜龈改变中,常见的是近裂隙区的牙龈退缩。裂隙区位于上颌前牙区,上颌前牙的牙龈退缩不仅会对容貌美观造成一定的影响,而且还可致牙周组织改变,影响其功能;因此,预防和改善近裂隙区的牙龈退缩具有重要的临床意义。本文就唇腭裂患者近裂隙区的牙龈退缩及其流行病学和治疗方法等研究进展作一综述。%The cleft lip and palate is the most common congenital malformation of face. Mucogingival alterations are inherent to clefts, and may be worsened by the comprehensive and sequential therapy, especially plastic surg-eries. Gingival recession adjacent to the cleft is a common mucogingival alteration. The cleft is located in the up-per front teeth area. Gingival recession on upper front teeth usually cause esthetic and even functional problems reulted from periodontal changes. Therefore, prevention and improvement of gingival recesion adjacent to the cleft is of clinical significance. This review summarizes the research progress of gingival recession adjacent to the cleft, its epidemiology and treatment.

  12. Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

    Science.gov (United States)

    Roosenboom, J.; Saey, I.; Peeters, H.; Devriendt, K.; Claes, P.; Hens, G.

    2015-01-01

    Evidence exists for the presence of a specific facial phenotype in nonaffected first-degree relatives of persons with CL/P. An increased risk for olfactory dysfunction has also been reported in CL/P-relatives. These phenotypic features can probably be explained via the presence of CL/P-related susceptibility genes. We aimed at confirming the occurrence of these endophenotypic traits in first-degree CL/P-relatives, and we investigated the link between the facial phenotype and the smell capacity in this group. We studied the facial morphology of 88 nonaffected first-degree relatives of patients with CL/P and 33 control subjects without family history of facial clefting by 3D surface imaging and a spatially dense analysis of the images. Smell testing was performed in 30 relatives and compared with 23 control subjects. Nonaffected relatives showed midface retrusion, hypertelorism, and olfactory dysfunction, compared to controls. In addition, we show for the first time that olfactory dysfunction in relatives is correlated to a smaller upper nasal region. This might be explained by a smaller central olfactory system. The different facial morphology in the relatives with olfactory impairment as compared to the total group may be an illustration of the contribution of different genetic backgrounds to the occurrence of CL/P via different biological pathways. PMID:26064961

  13. Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

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    J. Roosenboom

    2015-01-01

    Full Text Available Evidence exists for the presence of a specific facial phenotype in nonaffected first-degree relatives of persons with CL/P. An increased risk for olfactory dysfunction has also been reported in CL/P-relatives. These phenotypic features can probably be explained via the presence of CL/P-related susceptibility genes. We aimed at confirming the occurrence of these endophenotypic traits in first-degree CL/P-relatives, and we investigated the link between the facial phenotype and the smell capacity in this group. We studied the facial morphology of 88 nonaffected first-degree relatives of patients with CL/P and 33 control subjects without family history of facial clefting by 3D surface imaging and a spatially dense analysis of the images. Smell testing was performed in 30 relatives and compared with 23 control subjects. Nonaffected relatives showed midface retrusion, hypertelorism, and olfactory dysfunction, compared to controls. In addition, we show for the first time that olfactory dysfunction in relatives is correlated to a smaller upper nasal region. This might be explained by a smaller central olfactory system. The different facial morphology in the relatives with olfactory impairment as compared to the total group may be an illustration of the contribution of different genetic backgrounds to the occurrence of CL/P via different biological pathways.

  14. Gene expression profiling analysis contributes to understanding the association between non-syndromic cleft lip and palate, and cancer

    Science.gov (United States)

    WANG, HONGYI; QIU, TAO; SHI, JIE; LIANG, JIULONG; WANG, YANG; QUAN, LIANGLIANG; ZHANG, YU; ZHANG, QIAN; TAO, KAI

    2016-01-01

    The present study aimed to investigate the molecular mechanisms underlying non-syndromic cleft lip, with or without cleft palate (NSCL/P), and the association between this disease and cancer. The GSE42589 data set was downloaded from the Gene Expression Omnibus database, and contained seven dental pulp stem cell samples from children with NSCL/P in the exfoliation period, and six controls. Differentially expressed genes (DEGs) were screened using the RankProd method, and their potential functions were revealed by pathway enrichment analysis and construction of a pathway interaction network. Subsequently, cancer genes were obtained from six cancer databases, and the cancer-associated protein-protein interaction network for the DEGs was visualized using Cytoscape. In total, 452 upregulated and 1,288 downregulated DEGs were screened. The upregulated DEGs were significantly enriched in the arachidonic acid metabolism pathway, including PTGDS, CYP4F2 and PLA2G16; and transforming growth factor (TGF)-β signaling pathway, including SMAD3 and TGFB2. The downregulated DEGs were distinctly involved in the pathways of DNA replication, including MCM2 and POLA1; cell cycle, including CDK1 and STAG1; and viral carcinogenesis, including PIK3CA and HIST1H2BF. Furthermore, the pathways of cell cycle and viral carcinogenesis, with higher degrees of interaction were found to interact with other pathways, including DNA replication, transcriptional misregulation in cancer, and the TGF-β signaling pathway. Additionally, TP53, CDK1, SMAD3, PIK3R1 and CASP3, with higher degrees, interacted with the cancer genes. In conclusion, the DEGs for NSCL/P were implicated predominantly in the TGF-β signaling pathway, the cell cycle and in viral carcinogenesis. The TP53, CDK1, SMAD3, PIK3R1 and CASP3 genes were found to be associated, not only with NSCL/P, but also with cancer. These results may contribute to a better understanding of the molecular mechanisms of NSCL/P. PMID:26795696

  15. Cleft rhinoplasty.

    Science.gov (United States)

    Baskaran, M; Packiaraj, I; Arularasan, S Gidean; Divakar, T K

    2015-08-01

    It is universally accepted that correction of cleft lip nose deformity remains a formidable challenge for any cleft surgeon. The nose is a prominent part of the face, and hence a masterly executed cleft lip repair directs the beholders' eyes from the deformed lip to the deformed nose. A deformed nose that results from unilateral cleft of the lip and palate is likened to a tent whose one side is depressed. Many investigators believe that the deformity of the nose is produced by the malpositioning of essentially normal structures, on the other hand some cleft surgeons contend that it is the intrinsic defects in nasal structures that result in cleft nasal deformity. Depressed and hypoplastic bony scaffolding is the most important aspect of cleft nose deformity and addressing this aspect of cleft nose deformity is the secret of success of a perfect secondary rhinoplasty. Controversy still exists on timing of cleft nasal deformity. Proponents of delayed nasal repair suggest that altering the cartilages in early nasal repair at the time of lip repair would complicate future corrective nasal surgeries if the primary repair would prove unsatisfactory. The correction of nasal deformity could be performed with closed or open technique. This paper highlights one such challenging unilateral cleft lip nasal deformity in a adult patient treated by secondary rhinoplasty by open technique. PMID:26538945

  16. Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.

    Science.gov (United States)

    Aylward, Alana; Cai, Yi; Lee, Andrew; Blue, Elizabeth; Rabinowitz, Daniel; Haddad, Joseph

    2016-07-01

    Studies suggest that nonsyndromic cleft lip and palate (NSCLP) is polygenic with variable penetrance, presenting a challenge in identifying all causal genetic variants. Despite relatively high prevalence of NSCLP among Amerindian populations, no large whole exome sequencing (WES) studies have been completed in this population. Our goal was to identify candidate genes with rare genetic variants for NSCLP in a Honduran population using WES. WES was performed on two to four members of 27 multiplex Honduran families. Genetic variants with a minor allele frequency > 1% in reference databases were removed. Heterozygous variants consistent with dominant disease with incomplete penetrance were ascertained, and variants with predicted functional consequence were prioritized for analysis. Pedigree-specific P-values were calculated as the probability of all affected members in the pedigree being carriers, given that at least one is a carrier. Preliminary results identified 3,727 heterozygous rare variants; 1,282 were predicted to be functionally consequential. Twenty-three genes had variants of interest in ≥3 families, where some genes had different variants in each family, giving a total of 50 variants. Variant validation via Sanger sequencing of the families and unrelated unaffected controls excluded variants that were sequencing errors or common variants not in databases, leaving four genes with candidate variants in ≥3 families. Of these, candidate variants in two genes consistently segregate with NSCLP as a dominant variant with incomplete penetrance: ACSS2 and PHYH. Rare variants found at the same gene in all affected individuals in several families are likely to be directly related to NSCLP. PMID:27229527

  17. Investigating Oral Microbiome Profiles in Children with Cleft Lip and Palate for Prognosis of Alveolar Bone Grafting.

    Science.gov (United States)

    Liu, Luwei; Zhang, Qian; Lin, Jiuxiang; Ma, Lian; Zhou, Zhibo; He, Xuesong; Jia, Yilin; Chen, Feng

    2016-01-01

    In this study, we sought to investigate the oral microbiota structure of children with cleft lip and palate (CLP) and explore the pre-operative oral bacterial composition related to the prognosis of alveolar bone grafting. In total, 28 patients (19 boys, 9 girls) with CLP who were scheduled to undergo alveolar bone grafting for the first time were recruited. According to the clinical examination of operative sites at the third month after the operation, the individuals were divided into a non-inflammation group (n = 15) and an inflammation group (n = 13). In all, 56 unstimulated saliva samples were collected before and after the operation. The v3-v4 hypervariable regions of the 16S rRNA gene were sequenced using an Illumina MiSeq sequencing platform. Based on the beta diversity of the operational taxonomic units (OTUs) in the inflammation and non-inflammation samples, the microbial variation in the oral cavity differed significantly between the two groups before and after the operation (P < 0.05). Analysis of the relative abundances of pre-operative OTUs revealed 26 OTUs with a relative abundance higher than 0.01%, reflecting a significant difference of the relative abundance between groups (P < 0.05). According to a principal component analysis of the pre-operative samples, the inflammation-related OTUs included Tannerella sp., Porphyromonas sp., Gemella sp., Moraxella sp., Prevotella nigrescens, and Prevotella intermedia, most of which were enriched in the inflammation group and showed a significant positive correlation. A cross-validated random forest model based on the 26 different OTUs before the operation was able to fit the post-operative status of grafted sites and yielded a good classification result. The sensitivity and specificity of this classified model were 76.9% and 86.7%, respectively. These findings show that the oral microbiota profile before alveolar bone grafting may be related to the risk of post-operative inflammation at grafted sites. PMID

  18. Investigating Oral Microbiome Profiles in Children with Cleft Lip and Palate for Prognosis of Alveolar Bone Grafting

    Science.gov (United States)

    Liu, Luwei; Zhang, Qian; Lin, Jiuxiang; Ma, Lian; Zhou, Zhibo; He, Xuesong; Jia, Yilin; Chen, Feng

    2016-01-01

    In this study, we sought to investigate the oral microbiota structure of children with cleft lip and palate (CLP) and explore the pre-operative oral bacterial composition related to the prognosis of alveolar bone grafting. In total, 28 patients (19 boys, 9 girls) with CLP who were scheduled to undergo alveolar bone grafting for the first time were recruited. According to the clinical examination of operative sites at the third month after the operation, the individuals were divided into a non-inflammation group (n = 15) and an inflammation group (n = 13). In all, 56 unstimulated saliva samples were collected before and after the operation. The v3-v4 hypervariable regions of the 16S rRNA gene were sequenced using an Illumina MiSeq sequencing platform. Based on the beta diversity of the operational taxonomic units (OTUs) in the inflammation and non-inflammation samples, the microbial variation in the oral cavity differed significantly between the two groups before and after the operation (P < 0.05). Analysis of the relative abundances of pre-operative OTUs revealed 26 OTUs with a relative abundance higher than 0.01%, reflecting a significant difference of the relative abundance between groups (P < 0.05). According to a principal component analysis of the pre-operative samples, the inflammation-related OTUs included Tannerella sp., Porphyromonas sp., Gemella sp., Moraxella sp., Prevotella nigrescens, and Prevotella intermedia, most of which were enriched in the inflammation group and showed a significant positive correlation. A cross-validated random forest model based on the 26 different OTUs before the operation was able to fit the post-operative status of grafted sites and yielded a good classification result. The sensitivity and specificity of this classified model were 76.9% and 86.7%, respectively. These findings show that the oral microbiota profile before alveolar bone grafting may be related to the risk of post-operative inflammation at grafted sites. PMID

  19. Cheiloscopy and dermatoglyphics as genetic markers in the transmission of cleft lip and palate: A case-control study

    Directory of Open Access Journals (Sweden)

    K Saujanya

    2016-01-01

    Full Text Available Background: Determining the relative risk of cleft lip and palate (CL[P] on the basis of lip prints and dermatoglyphics as genetic background may be useful for genetic counseling, and the development of future preventive measures. Aims and Objectives: (1 To analyze the various pattern types of lip prints and dermatoglyphics in parents of CL(P children and to detect if any specific type can be contemplated as a genetic marker in the transmission of CL(P. (2 To compare these patterns with that of parents of unaffected children. Materials and Methods: 31 parents of children with CL(P as a study group, and 31 parents of unaffected children as control group were included. Lip prints and finger prints were collected from all subjects and analysis of both patterns was carried out followed by a comparison of the patterns of unaffected parents with the controls statistically. Results: Among the mothers of the study group, type O followed by type IIa lip patterns were found to be significantly higher in upper and lower lips, and in fathers type IIa followed by type O were significantly higher. In the control group, type IIb followed by type III were higher in both fathers and mothers. Dermatoglyphic analysis of palm and finger prints revealed no significant difference in the pattern types and total ridge counts, but the Atd angle asymmetry was found to be significant between study and control group. Conclusion: Types IIa and O lip patterns, asymmetry of Atd angles can be considered as genetic markers for the transmission of CL(P deformity to offsprings.

  20. Advancement of maxillary anterior segment by distraction osteogenesis for severe maxillary retrusion in cleft lip and palate

    Institute of Scientific and Technical Information of China (English)

    Gao Feng; Yang Minlie; Zhao Zhenmin; Sun Xiaomei; Yin Ningbei; Wang Yongqian; Song Tao

    2014-01-01

    Background Maxillary anterior segmental distraction osteogenesis (MASDO) is a recently used method for correction of severe maxillary retrusion in cleft lip and palate (CLP) patients.In this article,we evaluated the feasibility of MASDO using rigid external distraction (RED) and rapid orthodontic tooth movement to correct severe maxillary retrusion in CLP patients.Methods Fourteen male and five female complete CLP patients between the ages of 18 and 22 years (mean age 19.7 years) at the time of distraction,with severe maxillary retrusion,were treated with the rigid external distraction (RED) device after maxillary anterior osteotomy.Rapid orthodontic tooth movement was started one week after the MASDO.Standard profile photographic,cephalometric films were obtained preoperatively and after therapy.Sella-nasion-point A (SNA) and Sella-nasion-point B (SNB) angles were measured to reflect changes in maxillary and mandibular position,and the distance between anterior nasal spine and posterior nasal spine (ANS-PNS) was measured to represent the maxillary dental arch length.Results The SNA angle increased from an average of 74.6° (range 73.0°-78.0°),preoperatively,to 83.4° (range 78.6°-88.0°) after the RED was removed (P <0.01).All cases of severe maxillary retrusion were improved.Nine patients' profiles became harmonious after therapy.One patient had a bimaxillary protrusion deformity and needed further surgery.The regenerate alveolar crest and edentulous space on both segments was almost completely eliminated after rapid orthodontic tooth movement.Conclusion MASDO with the RED system and rapid orthodontic tooth movement is a successful way of correcting severe maxillary retrusion in CLP patients.

  1. A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

    Directory of Open Access Journals (Sweden)

    Regina Ferreira Rezek

    2014-01-01

    Full Text Available We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22t(8;22(q22.1;p11.1mat. Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other “pure” trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts.

  2. Assessment of Single-Word Production for Children under Three Years of Age: Comparison of Children with and without Cleft Palate

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    Nancy J. Scherer

    2012-01-01

    Full Text Available Background. This study reports comparative phonological assessment results for children with cleft lip and/or palate (CLP to typically developing peers using an evaluation tool for early phonological skills. Methods. Children without clefts (NC = noncleft and 24 children with CLP, ages of 18–36 months, were evaluated using the Profile of Early Expressive Phonological Skills (PEEPSs [1]. Children interacted with toy manipulatives to elicit a representative sample of target English consonants and syllable structures that are typically acquired by children between 18 and 27 months of age. Results. Results revealed significant differences between the two groups with regard to measures of consonant inventory, place of articulation, manner of production, accuracy, and error patterns. Syllable structure did not indicate differences, with the exception of initial consonant clusters. Conclusions. findings provide support for PEEPS as a viable option for single-word assessment of children with CLP prior to 3 years of age.

  3. ESTIMATION OF RECURRENCE RISK AND GENETIC COUNSELLING OF FAMILIES WITH EVIDENCE OF ISOLATED (UNSYNDROMIC CLEFT LIP AND PALATE IN SUCEAVA COUNTY, ROMANIA

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    Crsitian Tudose

    2007-08-01

    Full Text Available : Cleft lip and/or palate are the most frequent facial congenital malformations and represent a dramatic situation at birth, which involves important functional, aesthetic, psychological and social impairment that motivates the necessity of a thorough genetic study in the view of genetic counselling. We have studied the families of 100 children with clefts born during the years 1985-1996 in Suceava county and selected from the evidences of the Children Hospital Suceava. The recurrence risk was determined in accordance with the rules of calculation for multifactorial inheritance; it varied between 2 – 5% for the majority of cases (77% which corresponds to a small risk degree; only in 23% of cases the risk varied between 6 – 15% which corresponds to a medium risk degree

  4. A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence.

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    Zena T Wolf

    2014-04-01

    Full Text Available Cleft palate (CP is one of the most commonly occurring craniofacial birth defects in humans. In order to study cleft palate in a naturally occurring model system, we utilized the Nova Scotia Duck Tolling Retriever (NSDTR dog breed. Micro-computed tomography analysis of CP NSDTR craniofacial structures revealed that these dogs exhibit defects similar to those observed in a recognizable subgroup of humans with CP: Pierre Robin Sequence (PRS. We refer to this phenotype in NSDTRs as CP1. Individuals with PRS have a triad of birth defects: shortened mandible, posteriorly placed tongue, and cleft palate. A genome-wide association study in 14 CP NSDTRs and 72 unaffected NSDTRs identified a significantly associated region on canine chromosome 14 (24.2 Mb-29.3 Mb; p(raw = 4.64 × 10(-15. Sequencing of two regional candidate homeobox genes in NSDTRs, distal-less homeobox 5 (DLX5 and distal-less homeobox 6 (DLX6, identified a 2.1 kb LINE-1 insertion within DLX6 in CP1 NSDTRs. The LINE-1 insertion is predicted to insert a premature stop codon within the homeodomain of DLX6. This prompted the sequencing of DLX5 and DLX6 in a human cohort with CP, where a missense mutation within the highly conserved DLX5 homeobox of a patient with PRS was identified. This suggests the involvement of DLX5 in the development of PRS. These results demonstrate the power of the canine animal model as a genetically tractable approach to understanding naturally occurring craniofacial birth defects in humans.

  5. Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.

    Science.gov (United States)

    Fu, Xiazhou; Cheng, Yibin; Yuan, Jia; Huang, Chunhua; Cheng, Hanhua; Zhou, Rongjia

    2015-02-01

    The cleft palate only (CPO) is a common congenital defect with complex etiology in humans. The molecular etiology of the CPO remains unknown. Here, we report a loss-of-function mutation in X-linked TBX22 gene (T-box 22) in a six-generation family of the CPO with obvious phenotypes of both cleft palate and hyper-nasal speech. We identify a functional -73G>A mutation in the promoter of TBX22, which is located at the core-binding site of transcription factor ETS-1 (v-ets avian erythroblastosis virus E26 oncogene homolog 1). Phylogenetic analysis showed that the sequence around the -73G>A mutation site is specific in primates. The mutation was detected in all five affected male members cosegregating with the affected phenotype and heterozygote occurred only in some unaffected females of the family, suggesting an X-linked transmission of the mutation in the family. The -73G>A variant is a novel single nucleotide mutation. Cell co-transfections indicated that ETS-1 could activate the TBX22 promoter. Moreover, EMSA and ChIP assays demonstrated that the allele A disrupts the binding site of ETS-1, thus markedly decreases the activity of the TBX22 promoter, which is likely to lead to the birth defect of the CPO without ankyloglossia. These results suggest that a loss-of-function mutation in the X-linked TBX22 promoter may cause the cleft palate through disruption of TBX22-ETS-1 pathway.

  6. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP - Part 5: Institutional outcomes assessment and the role of the Laboratory of Physiology

    Directory of Open Access Journals (Sweden)

    Jose Alberto de Souza Freitas

    2013-07-01

    Full Text Available The Laboratory of Physiology provides support for the diagnosis of functional disorders associated with cleft lip and palate and also conducts studies to assess, objectively, the institutional outcomes, as recommended by the World Health Organization. The Laboratory is conceptually divided into three units, namely the Unit for Upper Airway Studies, Unit for Stomatognathic System Studies and the Unit for Sleep Studies, which aims at analyzing the impact of different surgical and dental procedures on the upper airways, stomatognathic system and the quality of sleep of individuals with cleft lip and palate. This paper describes the main goals of the Laboratory in the assessment of procedures which constitute the basis of the rehabilitation of cleft lip and palate, i.e., Plastic Surgery, Orthodontics and Maxillofacial Surgery and Speech Pathology.

  7. Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate

    Science.gov (United States)

    Leslie, Elizabeth J.; Arzi, Boaz; Willet, Cali E.; Cox, Timothy C.; McHenry, Toby; Narayan, Nicole; Feingold, Eleanor; Wang, Xioajing; Sliskovic, Saundra; Karmi, Nili; Safra, Noa; Sanchez, Carla; Deleyiannis, Frederic W. B.; Murray, Jeffrey C.; Wade, Claire M.; Marazita, Mary L.; Bannasch, Danika L.

    2015-01-01

    Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10-13; adjusted p= 2.2 x 10-3). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 – 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3)), which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM) of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6) with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans. PMID:25798845

  8. Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.

    Directory of Open Access Journals (Sweden)

    Zena T Wolf

    2015-03-01

    Full Text Available Cleft lip with or without cleft palate (CL/P is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10(-13; adjusted p= 2.2 x 10(-3. Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 - 10.73 Mb segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3, which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6 with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans.

  9. Alveolar bone grafting in association with polyostotic fibrous dysplasia and bisphosphonate-induced abnormal bone turnover in a bilateral cleft lip and palate patient: a case report.

    Science.gov (United States)

    Kodama, Yasumitsu; Ogose, Akira; Oguri, Yoshimitsu; Ubaidus, Sobhan; Iizuka, Tateyuki; Takagi, Ritsuo

    2012-09-01

    A case is presented of extensive alveolar bone grafting in a patient with bilateral cleft lip and palate and polyostotic fibrous dysplasia. The patient previously underwent bisphosphonate therapy. Because of an abnormal and often decreased bone turnover caused by the fibrous dysplasia and the bisphosphonate therapy, bone grafting in such a patient poses several potential difficulties. In addition, the histomorphometric analysis of the bone grafts showed markedly decreased bone turnover. However, alveolar bone grafting using the iliac crest was performed successfully. Sufficient occlusion was achieved by postoperative low-loading orthodontic treatment.

  10. Early orthodontic intervention followed by fixed appliance therapy in a patient with a severe Class III malocclusion and cleft lip and palate.

    Science.gov (United States)

    Zhang, He; Deng, Feng; Wang, Huaqiao; Huang, Qianqian; Zhang, Yi

    2013-11-01

    This case report describes the treatment of a girl, age 11 years 10 months, with a cleft lip and palate and a postsurgical scar. The clinical examination showed a concave profile, a retrusive maxilla, an asymmetric face, severe dental crowding, a Class III dental relationship, and a complete dental crossbite. Maxillary expansion and distraction, chincap, and high-pull headgear were used to moderate the skeletal discrepancy. These approaches, combined with tooth extraction and fixed orthodontic appliances, finally established a functional and esthetic occlusal relationship, normal overjet and overbite, and a well-balanced facial appearance.

  11. 唇腭裂幼儿行为问题的研究%A study of social behavior problems in toddler with congenital cleft lip and palate

    Institute of Scientific and Technical Information of China (English)

    胡慧君; 欧新荣; 翦新春

    2013-01-01

    Objective:To evaluate the social behavior problems of toddlers with congenital cleft lip and/or palate,and to provide evidences for clinical psychological assessment and intervention.Method:95 toddlers (aged 2~3) with congenital cleft lip and palate were chosen randomly and assessed by Child Behavior Checklist (CBCL,developed by Achenbach) in Xiangya hospital.Result:No gender difference was observed among the investigated toddlers with congenital cleft lip and palate,however,the investigated group got lower scores in element of aggressiveness and higher scores in elements of social withdrawal,depression,sleep,body made,damage behavior (P <0.05).Conclusion:Toddlers with congenital cleft lip and/or palate have more social behavior problems than normal ones.Effective psychological interventions,considering individual differences,should be applied to them.%目的:评价唇腭裂幼儿行为问题,为临床开展心理评估及干预提供参考依据.方法;随机选取2010年1月~2011年12月于中南大学湘雅医院口腔颌面外科住院治疗的唇腭裂患儿95例(年龄2~3岁),采用Achenbach的“儿童行为量表(Child Behavior Checklist,CBCL)”评估并与正常同龄幼儿对照分析.结果:幼儿唇腭裂行为问题无性别差异;但唇腭裂组患儿在攻击行为因子得分较对照组得分低,在社会退缩、抑郁、睡眠问题、躯体诉述、破坏行为5个行为因子方面得分则高于对照组.结论:唇腭裂幼儿行为与正常婴幼儿相比有明显的异常,根据患儿自身行为异常进行及时的行为心理干预治疗是十分必要的.

  12. Comparative study of three techniques of palatoplasty in patients with cleft of lip and palate via instrumental and auditory-perceptive evaluations

    Directory of Open Access Journals (Sweden)

    Paniagua, Lauren Medeiros

    2010-03-01

    Full Text Available Introduction: Palatoplasty is a surgical procedure that aims at the reconstruction of the soft and/or hard palate. Actually, we dispose of different techniques that look for the bigger stretching of the soft palate joint to the nasofaryngeal wall to contribute in the appropriate operation of the velopharyngeal sphincter. Failure in its closing brings on speech dysfunctions. Objective: To compare the auditory-perceptive' evaluations and instrumental findings in patients with cleft lip and palate operate through three distinctive techniques of palatoplasty. Method: A prospective transversal study of a group of patients with complete unilateral cleft lip and palate. Everybody was subjected to a randomized clinical essay, through distinctive techniques of palatoplasty performed for a single surgeon, about 8 years. In the period of the surgery, the patients were divided in three distinctive groups with 10 participants each one. The present study has evaluates: 10 patients of the Furlow technique, 7 patients of the Veau-Wardill-Kilner+Braithwaite technique and, 9 patients of the Veau-Wardill-Kilner+Braithwaite+Zetaplasty technique; having a total sample of 26 individuals. All the patients were subjected to auditory-perceptive evaluation through speech recording. An instrumental evaluation was also performed through video endoscopy exam. Results: The findings were satisfactory in the three techniques, in other words, the majority of the individuals does not present hyper nasality, compensatory articulatory disturbance and audible nasal air emission. In addition, in the instrumental evaluation, the majority of the individuals of the three techniques of palatoplasty present an appropriate velopharyngeal function. Conclusion: Was not found statistically significant difference between the palatoplasty techniques in both evaluations

  13. Desenvolvimento bucal e aleitamento materno em crianças com fissura labiopalatal Oral development and breastfeeding in children with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Luciana Rodrigues V Batista

    2011-12-01

    Full Text Available OBJETIVO: Aspectos funcionais do estado de saúde bucal de crianças portadoras de fissuras de lábio e/ou palato interferem na capacidade natural de serem adequadamente alimentadas, como também em seu crescimento e desenvolvimento. Essa revisão visou verificar a influência do aleitamento materno sobre o desenvolvimento buco-maxilo-facial em crianças com fissuras labiais. FONTES DE DADOS: Revisão das bases de dados Medline e SciELO entre 2000 e 2010, utilizando os termos: "fenda labial", "fissura palatina", "aleitamento materno", "alimentação artificial" e "higiene bucal". As informações foram agrupadas, de modo a estabelecer a relação entre a amamentação natural e artificial no desenvolvimento bucofacial e estado de saúde bucal. SÍNTESE DOS DADOS: A pesquisa inicial selecionou um total de 27.046 artigos, dos quais 26.793 abordaram o aleitamento materno e a alimentação artificial, 119 relacionavam a influência do aleitamento materno sobre o desenvolvimento bucofacial, enquanto 134 analisaram a relação entre a amamentação e o estado de saúde bucal. Foram selecionados para a análise 34 artigos, sendo 20 com crianças portadoras de fendas labiais e/ou fissuras palatinas. CONCLUSÕES: O aleitamento natural em crianças portadoras de fissuras de lábio e/ou palato é fator decisivo para a correta maturação e crescimento craniofacial em nível ósseo, muscular e funcional e na prevenção de problemas bucais. Além disso, essas crianças apresentam maior prevalência de cárie dental, problemas relacionados à doença periodontal, podendo ainda apresentar problemas de má oclusão.OBJECTIVE: Functional aspects of oral health of children with cleft lip and/or palate interfere in their possibility of being naturally fed, as well as in their growth and development. This review aimed to verify the influence of breastfeeding on orofacial development of children with cleft lip and/or palate. DATA SOURCES: Data were obtained by

  14. Effects of early and late cheiloplasty on anterior part of maxillary dental arch development in infants with unilateral complete cleft lip and palate

    Science.gov (United States)

    2016-01-01

    Objectives. The objective of this study is to compare the impact of early and late reconstruction of complete unilateral cleft lip and palate on the growth and development of the front of the dentoalveolar arch. Methods. This study was carried out in the years 2012–2015 at the Clinic of Plastic, Reconstructive and Aesthetic Surgery in Banska Bystrica. Infants with unilateral complete cleft lip and palate were divided into 2 groups according to the timing of lip reconstruction. Group A consisted of infants with early lip reconstruction–realised in the first 14 days of life. Group B consisted of infants with later lip reconstruction–realised in the third month of age. Maxillary dental casts were obtained for each child in four periods–in the first 14 days of life, in the third month, in the sixth month and in the age of one year. These were followed by the identification, measurement and evaluation of anthropometric parameters. Results. Significant differences were occurred after the reconstruction of the lips in linear and angle measurements between infants in the A and B groups. Conclusion. The early surgical reconstruction of the lips in the first 14 days of life has a positive effect on the growth and development of the anterior segment of the dentoalveolar arch. Early lip reconstruction forms a continuous pressure on the frontal segment, resulting in the earlier remedy of anatomical properties and creates appropriate conditions for the best development of this area. PMID:26893957

  15. A Retrospective Study of Cleft lip and palate Patients´ Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla

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    Kristian Andersen

    2012-06-01

    Full Text Available Objectives: To compare cleft lip and palate patients’ satisfaction with aesthetics and functional parameters after conventional advancement of the maxilla or by the use of distraction osteogenesis.Material and methods: Case series observational study. Group of distraction osteogenesis (DO consisted of 15 patients treated with distraction osteogenesis while group conventional (CONV included 10 patients treated with traditional advancement of the maxilla. Patients were asked to fill out a questionnaire about their subjective evaluation of satisfaction with facial aesthetics and functional parameters on a continuous visual analog-scale (VAS when the treatment was finished.Results: The total response rate was 76%. Preoperatively the two groups did not differ significantly according to group characteristics. At follow-up both groups were satisfied with aesthetics and functional parameters. The DO group was less satisfied with the duration of the treatment than the CONV group. There were no statistically significant differences among the groups regarding functional parameters or facial aesthetics.Conclusions: Cleft lip and palate patients experienced a high level of satisfaction with functional parameters and aesthetics as a result of surgical maxillary advancement. The patients treated with distraction osteogenesis were less satisfied with the duration of the treatment. Further studies are needed.

  16. 胎儿单纯腭裂的产前超声诊断%The prenatal ultrasonic diagnosis of isolate fetal cleft palate

    Institute of Scientific and Technical Information of China (English)

    何光智; 张辉; 杨建恩; 熊奕; 吴一彬; 方耿周; 阳爱民; 孔卫萍; 王茜

    2014-01-01

    中枢神经系统畸形(6/12)、小下颌(6/12)、泌尿系畸形(5/12)最多见。2例胎儿合并羊水过多,1例胎儿无羊水。结论系统产科超声检查将胎儿继发腭作为常规检测项目进行规范化检查,在成功获取继发腭显像的胎儿中可以检出单纯腭裂。产前诊断单纯腭裂有利于孕妇进行全面的产前咨询及遗传风险评估。%Objective To summarize the characteristics and associated malformation of fetal isolate cleft palate in prenatal ultrasonography, and analyze the reason of ultrasound misdiagnosis and missed diagnosis in isolate fetal cleft palate prenatally. Methods Systemic screening was performed with two-and three-dimensional ultrasonography in 3 576 cases. The fetal lip and plane were observed especially in nasolabial coronary plane, axial plane through maxilla, median sagittal plane, oblique coronal plane through oral cleft. Meanwhile the accompanied deformity were also screened. And prenatal ultrasound results were compared with postpartum ifndings. Results Eleven in 3 598 cases (0.31%, 11/3 598) were diagnosed as fetal isolate cleft palate by prenatal ultrasonography. The ultrasonic characteristics of isolate cleft palate were:(1) One case ofⅠ° cleft palate, the ultrasonic manifestations:in median sagittal plane, the hyperecho line of median palatine suture was disappeared, and the mucous membranes above and below it were complete;in oblique coronal plane of soft palate through oral cleft, the soft palate was complete and continuous;uvula couldn′t be displayed. (2) Three cases ofⅡ° cleft palate, the ultrasonic manifestations:in median sagittal plane though jaw, the hyperecho line of median palatine suture was shorter;the latter half and the midline of soft palate was disappeared;in both paramedian sagittal plane, the arc-shaped hyperecho line of median palatine suture were displayed;and longer than the hyperecho of midline of palate;in oblique coronal plane of hard palate through oral cleft, the

  17. Desempenho escolar de alunos com fissura labiopalatina no julgamento de seus professores School performance of students with cleft lip and palate in their teachers' point of view

    Directory of Open Access Journals (Sweden)

    Ana Beatriz Cardoso Domingues

    2011-09-01

    Full Text Available OBJETIVO: Verificar o desempenho escolar de alunos com fissura labiopalatina sem anomalias associadas e correlacionar os possíveis fatores interferentes, segundo a opinião dos professores de 1ª a 8ª séries do Ensino Fundamental. MÉTODOS: A metodologia deste estudo compreendeu duas etapas. Na primeira etapa foi realizada uma análise retrospectiva de 61 prontuários de pacientes com fissura labiopalatina sem anomalias associadas, regularmente matriculados em classes de 1ª a 8ª séries do Ensino Fundamental. Esta etapa foi realizada a fim de caracterizar o perfil dos mesmos, quanto ao gênero, nível socioeconômico, tipo de fissura, timpanometria e inteligibilidade de fala. A segunda etapa incluiu a aplicação de um questionário com o intuito de verificar a percepção dos professores sobre o desempenho escolar destes alunos. Os resultados foram analisados estatisticamente. RESULTADOS: A análise dos questionários mostrou que somente 20,7% dos professores consideraram que seus alunos com fissura labiopalatina têm desempenho escolar abaixo da média da classe. Não foi encontrada diferença significativa na associação entre o desempenho escolar e os possíveis fatores interferentes, a saber, gênero, nível socioeconômico, tipo de fissura, timpanometria e inteligibilidade de fala. CONCLUSÃO: O desempenho escolar da maioria dos alunos com fissura labiopalatina sem anomalias associadas foi percebido pelos respectivos professores como satisfatório, ou seja, dentro da média, considerando os demais alunos de sua sala de aula.PURPOSE: To assess the school performance of students from 1st to 8th grade of Elementary School with cleft lip and palate without associated anomalies, and to correlate possible interfering factors, according to the opinion of their teachers. METHODS: The methodology of this study was divided into two stages. The first stage was a retrospective analysis of 61 medical records of patients with cleft lip and palate

  18. Analysis study of/i/nasal formant In different types of cleft palate children%不同腭裂类型儿童/i/音鼻音共振峰分析研究

    Institute of Scientific and Technical Information of China (English)

    马思维; 文抑西

    2011-01-01

    目的:研究单侧腭裂、双侧腭裂、软腭裂儿童的/i/音鼻音共振峰,探讨能够反映不同腭裂类型的客观指标.方法:使用Praat语音分析软件在分析正常儿童以及不同腭裂类型儿童不同元音共振峰的基础上,分析/i/音共振峰,确定及分析不同腭裂类型的鼻音共振峰.结果:/i/音鼻音共振峰的频率值以及能量差可以反映不同腭裂类型间的差别.结论:/i/音鼻音共振峰可作为反映腭裂患者共鸣程度以及鼻音的一个新的客观指标.%Objective To study the nasal formant of/i/in different types of lateral, bilateral and soft cleft palate,and to search the objective phonetic index that could distinguish different types cleft palate. Methods This experiment compared vowel formants of chinese phonetic alpabetic produced by normal children and children of different types cleft palate by Praat software.To Analysis the formant of/i/and to define the nasal formant in different cleft palate types.Results The difference of different cleft palate types showed by the nasal formant of/i/. Conclusion /i/nasal formant is a new objective evaluation indicator of resonance and hypernasality of celft palate patient.

  19. Technique for Preserving Pterygoid Hamuli and Aponeurosis of Palate in Repairing Child's Cleft Palate%保留翼钩及腭腱膜修复小儿腭裂115例总结

    Institute of Scientific and Technical Information of China (English)

    高景恒; 徐振宽; 郑华翔; 王玉明

    1984-01-01

    From July;1969 to May;1982;115 cases of children's cleft palates were treated;58 boys and 57 girls;the 2 youngest being 1.5 years of age.The surgical technic used could be divided into 3 periods:namely;the first period(mainly hypotensive incisi on);the (Second period(synthetical technic)and the third period(technics of preserving pterygoid hamuli and aponeurosis of the palate).The recurrent disruption rate was 9.57%(11:115)among which 9 happened In the first period and 2 in the second.So far as the age for surgical intervention is concerned;it was believed that adequate closure of the cleft;satisfactory restoration of pronunciation;and not to increase the mortality or morbidity must be taken into consideration.Hence;earlier repair is recommendable only under 2 conditions;i.e.the child is well-nourished and the surgeon and anaesthetist are well-experienced.Otherwise;it is better to delay it until the patient is 5 or 6 years old.The principle for the selection of surgical approaches and the importance of preserving pterygoid hamuli and aponeurosis of palate are also discussed.%@@ 理想的腭裂修复不仅应封闭裂隙,而更重要的是创造良好的发音条件.重建正常的腭咽解剖结构是获得优良发音的必要条件.我院自1969年7月到1982年5月共收治小儿腭裂115例.

  20. Micro-structured Beta-Tricalcium Phosphate for Repair of the Alveolar Cleft in Cleft Lip and Palate Patients : A Pilot Study

    NARCIS (Netherlands)

    de Ruiter, AP; Janssen, Nard; van Es, Robert; Frank, Michael; Meijer, Gert; Koole, Ron; Rosenberg, Toine

    2015-01-01

    OBJECTIVES: Can a synthetic bone substitute be used to repair the alveolar cleft to bypass donor site morbidity as well as to shorten the operating time? In earlier experimental studies, micro-structured beta-tricalcium phosphate (β-TCP) provided similar bone healing when compared with grafting with

  1. Nasomaxillary complex in size, position and orientation in surgically treated and untreated individuals with cleft lip and palate: A cephalometric overview

    Directory of Open Access Journals (Sweden)

    Rohit Khanna

    2012-01-01

    Full Text Available Background: This cross-sectional retrospective cephalometric study was designed to clarify whether the maxillary deficiency seen in surgically treated individuals with non-syndromic complete unilateral cleft lip and palate (UCLP is due to inherent growth potential or iatrogenicity. Materials and Methods: 72 adult individuals were randomly selected in the age range of 12-20 years, and were divided into two groups. Group I had 47 untreated individuals. Group II consisted of 25 surgically treated individuals. Lateral and frontal cephalograms of the selected individuals were taken and analysed using Nemoceph software. Results: Group II showed a marked reduction in the cranial base angle, maxillary base length, anterior and posterior maxillary positions, palatal plane angle, maxillary width, maxillary height, occlusal plane height, nasal width and nasal height. Conclusion: Surgical intervention does interfere with growth in the facial region. This could be attributed to the scar tissue in lip and palate region, which has a restraining effect on growth in the facial region. These altered functional matrices play a significant role in determining the growth of facial structures.

  2. Inconformity between soft tissue defect and bony defect in incomplete cleft palate%腭裂软硬组织畸形程度的不一致性观察

    Institute of Scientific and Technical Information of China (English)

    周侠; 马莲

    2014-01-01

    目的 观察不全腭裂中骨性继发腭完全裂开患者的软组织畸形形态,评价其软硬组织畸形的不一致程度.方法 对2012年7月至2013年6月于北京大学口腔医学院·口腔医院唇腭裂门诊诊断为不完全腭裂(包括腭隐裂)的住院患者,术前留取口内腭部像片、选取裂隙前端达切牙孔者及软组织裂隙未裂至切牙孔、但CT三维重建硬腭骨板显示骨裂隙达切牙孔者共75例.根据软组织畸形程度将75例分为4类,Ⅰ类:裂至切牙孔;Ⅱ类:硬软腭裂;Ⅲ类:软腭裂;Ⅳ类:腭隐裂.其中与硬组织畸形程度一致的Ⅰ类为一致组(conformity group,CG组);Ⅱ、Ⅳ类为不一致组(inconformity group,ICG组),ICG组又分3个亚组ICG-Ⅰ、ICG-Ⅱ和ICG-Ⅲ.结果 75例中,ICG组共57例,不一致率76%(57/75),其中ICG-Ⅰ、ICG-Ⅱ和ICG-Ⅲ的比例分别是47%(27/57)、23%(13/57)和30%(17/57).结论 骨性继发腭完全裂开的软组织畸形形态多样,软组织畸形程度大多与骨组织畸形不一致.%Objective To evaluate the inconformity between soft tissue defect and bony defect by observing the cleft extent of palate with complete secondary palate bony cleft in incomplete cleft palate patient.Methods The patients with incomplete cleft palate treated in Hospital of Stomatology Peking University from July 2012 to June 2013 were reviewed,of which 75 cases with complete secondary palate bony cleft were selected in this study.The CT scan and intraoral photograph were taken before operation.The patients were classified as four types according to the extent of soft tissue defect.Type 1:soft tissue defect reached incisive foremen region,Type 2 was hard and soft cleft palate,Type 3 soft cleft palate and Type 4 submucous cleft palate.Type 1 was defined as conformity group (CG).The other three types were defined as inconformity group(ICG) and divided into three subgroups (ICG-Ⅰ),(ICG-Ⅱ) and (ICG-Ⅲ).Results Fifty-seven patients were in ICG group

  3. Cleft Lip and Palate

    Science.gov (United States)

    ... time they drink and not just when they laugh. Fortunately, there are feeding specialists and special baby ... also have beautiful eyes, a great sense of humor, or a terrific slam-dunk! If you have ...

  4. Cleft Lip and Palate

    Science.gov (United States)

    ... from surgery, coping with speech problems, or improving self-esteem. Some teens join support groups or online forums where they can talk to ... Parents MORE ON THIS TOPIC Hearing Impairment Speech Problems ...

  5. Oral health in 4-6 years children with cleft lip/palate: A case control study

    Directory of Open Access Journals (Sweden)

    Amandeep Chopra

    2014-01-01

    Full Text Available Background: Oro-facial clefts are a major public health problem. Children with clefts rarely escape dental complications. Aims: This study was to determine differences in the dental caries experience, gingival health, and prevalence malocclusion, enamel defects and oral mucosal lesions among 4-6 year old children with and without cleft in Panchkula. Materials and Methods: The sampling frame consisted of 4-6 year old children with clefts visiting Swami Devi Dyal Hospital and Dental College, Panchkula, India. As a control group an age (±3 months and gender-matched sample from the same geographical areas were recruited. Dental caries status, gingival health status, developmental defect of enamel, malocclusion and oral mucosal health were assessed and compared between the two groups. Results: Significant differences in dental caries and gingival health status were found between children with and without cleft. Anterior open-bite, increased overjet and oral mucosal lesions (P 0.05. Conclusion: Differences of oral health status exist among 4-6 year old children with and without clefts. Children fare worse in terms of dental caries, gingival health, oral mucosal health and malocclusion.

  6. Diagnóstico Pré-Natal de Fenda Labial e Palatina: Experiência de 40 Casos Prenatal Diagnosis of Lip and Palate Cleft: Experience of 40 Cases

    Directory of Open Access Journals (Sweden)

    Victor Bunduki

    2001-10-01

    Full Text Available Objetivos: avaliar casos de fenda facial fetal quanto ao tipo de lesão, associação com outras malformações e aneuploidias. Métodos: as fendas faciais foram estudadas quanto a idade materna e antecedentes, idade gestacional no diagnóstico, lado da lesão, tipo de lesão, presença de malformações associadas e/ou aneuploidias, mortalidade e seguimento pós-natal. Resultados: em 40 fetos com fenda, a lesão era labial pura em 18 casos (45%, labiopalatina em 19 (47,5% e palatina em 3 (7,5%. Em 10 casos a fenda era isolada (25%, todas unilaterais. No grupo de malformações associadas, a aneuploidia esteve presente em 10/30 (33,3%. A lesão labiopalatina predominou neste grupo (18/30 - 60%, seguida por fenda bilateral (8/30 - 26,7% e mediana (10/30 - 33,3%. Conclusões: as fendas faciais constituíram excelente marcador para malformações associadas e aneuploidias fetais. Casos de fendas faciais devem ser encaminhados para centros especializados para que se realizem adequados exames ultra-sonográfico e genético tecendo em seguida a conduta. O caráter isolado da fenda facial esteve associado a excelente prognóstico.Purpose: to evaluate fetuses with facial cleft as to type of lesion, associated malformations and aneuploidies. Method: the following parameters were evaluated: maternal age and previous history, gestational age at diagnosis, lesion side, type of lesion, presence of associated malformations and aneuploidies, mortality rate and postnatal follow-up. Results: forty fetuses had facial cleft, 18 (45% cases had cleft lip, 19 (47.5% had cleft lip and palate, and 3 (7.5% cases presented with cleft palate. Isolated facial cleft was observed in 10 fetuses (25%, all of them unilaterally located. Aneuploidies were identified in 10/30 (33.33% of the patients with associated malformations. Cleft lip and palate was more often seen in this group (18/30 - 60%, followed by bilateral lesion (8/30 - 26.7% and median cleft (10/30 - 33

  7. Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.

    Science.gov (United States)

    Sutton, V Reid; Plunkett, Katie; Dang, Diane X; Lewis, Richard A; Bree, Alanna F; Bacino, Carlos A

    2009-09-01

    Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome are well-characterized clinical entities caused by mutations in the TP63 gene. While AEC and Rapp-Hodgkin had been thought to be clinically distinct entities, the elucidation of their molecular etiology confirmed that they are a clinical continuum as opposed to distinct disorders. We have evaluated 17 patients with AEC syndrome using a systematic clinical approach. In our study, we have identified new features and others that were thought to occur only rarely. These include short stature and poor weight gain with preservation of head circumference in nearly all subjects, trismus in 35% and hypospadias in 78% of males. In addition, we describe the frequency of phenotypic features and demonstrate the extreme clinical variability in the largest cohort of AEC individuals reported in the literature thus far.

  8. The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X.

    Science.gov (United States)

    Stanier, P; Forbes, S A; Arnason, A; Bjornsson, A; Sveinbjornsdottir, E; Williamson, R; Moore, G

    1993-09-01

    The locus responsible for X-linked, nonsyndromic cleft palate and/or ankyloglossia (CPX) has previously been mapped to the proximal long arm of the human X chromosome between Xq21.31 and q21.33 in an Icelandic kindred. We have extended these studies by analyzing an additional 14 informative markers in the family as well as including several newly investigated family members. Recombination analysis indicates that the CPX locus is more proximal than previously thought, within the interval Xq21.1-q21.31. Two recombinants place DXYS1X as the distal flanking marker, while one recombinant defines DXS326 as the proximal flanking marker, an interval of less than 5 cM. Each of the flanking markers recombines with the CPX locus, giving 2-point lod scores of Zmax = 4.16 at theta = 0.08 (DXS326) and Zmax = 5.80 at theta = 0.06 (DXYS1X).

  9. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?

    Science.gov (United States)

    Zechi-Ceide, Roseli Maria; Guion-Almeida, Maria Leine; Jehee, Fernanda Sarquis; Rocha, Katia; Passos-Bueno, Maria Rita Santos

    2010-07-01

    We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. [2007] and the case with Johnson-McMillin syndrome described by Cushman et al. [2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson-McMillin syndrome.

  10. Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome

    Directory of Open Access Journals (Sweden)

    Alysse J. Sever, MD

    2015-12-01

    Full Text Available A male infant was born with a bilateral cleft lip and/or palate, absent nasal structures, left anophthalmos, right coloboma, and bilateral fifth digit clinodactly. Brain magnetic resonance imaging revealed severe asymmetric hydrocephalus, absent corpus callosum, a suprasellar mass with a high riding third ventricle, and no pituitary gland. He had a normal male karyotype and normal prenatal laboratory testing. He had no significant family history and no renal, vertebral, gastrointestinal, or cardiac malformations. This combination of central nervous system findings, ocular and craniofacial abnormalities, a normal karyotype, and limited skeletal abnormalities to our knowledge has only been previously described once in the literature in association with a disruption in Pax and Sonic Hedgehog protein pathways, and we conclude this patient represents a variant of this described syndrome.

  11. Association of Transforming Growth Factor Alpha and Methylenetetrahydrofolate reductase gene variants with nonsyndromic cleft lip and palate in the Indian population

    Directory of Open Access Journals (Sweden)

    Asavari L Desai

    2014-01-01

    Full Text Available Objectives: The aim was to evaluate the relationship of the K-primer variant of the transforming growth factor-alpha (TGF-α gene and C677T variant of the methylenetetrahydrofolate reductase (MTHFR gene with nonsyndromic cleft lip and palate (CL/P in the Indian population. Setting and Sample Population: The study group consisted of DNA samples of 25 subjects with nonsyndromic CL with or without cleft palate and 25 unrelated controls, already existing in the Department of Orthodontics, D.A.P.M.R.V. Dental College, Bengaluru, Karnataka, India. Materials and Methods: The DNA samples were divided into two categories: Group A which included the 25 subjects with nonsyndromic CL/P; and Group B, which consisted of the 25 unrelated controls. The polymerase chain reaction (PCR test was done for amplification of the region of interest from the DNA samples. Restriction digestion was then performed on the amplified product using the restriction enzyme HinfI, separately for each of the variants. The digested PCR products were separated into channels on a 1.5% agarose gel containing ethidium bromide in an electrophoretic chamber. A U.V. transilluminator was used to see the specific bands of base pairs of the digested PCR products. Results: In Group A, the TGF-α gene variant was present in 16 subjects (P = 0.001 and MTHFR gene variant was present in 8 subjects (P = 0.185. A combination of both gene variants were present in seven subjects, which was an interesting finding. In Group B, four subjects tested positive for the TGF-α and MTHFR gene variants. Conclusions: The TGF-α gene variant and a combination of TGF-α + MTHFR gene variants significantly contribute to the development of nonsyndromic CL/P and can be considered as genetic markers for Indian population. The MTHFR gene variant, though a minor risk factor, cannot be considered as a genetic marker.

  12. Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese population.

    Directory of Open Access Journals (Sweden)

    Di Wu

    Full Text Available Cleft lip with or without palate (CL/P is a common congenital anomaly with a high birth prevalence in China. Based on a previous linkage signal of nonsyndromic CL/P (NSCL/P on the chromosomal region 4q31-q32 from the Chinese populations, we screened the 4q31-q32 region for susceptibility genes in 214 trios of Han Chinese. PDGF-C, an important developmental factor, resides in the region and has been implicated in NSCL/P. However, in our family-based association test (transmission disequilibrium test; TDT, we could not conclude an association between PDGF-C and NSCL/P as previously suggested. Instead, we found strong evidence for parent-of-origin effect at a PDGF-C SNP, rs17035464, by a likelihood ratio test (unadjusted p-value = 0.0018; I(m = 2.46. The location of rs17035464 is 13 kb downstream of a previously reported, NSCL/P-associated SNP, rs28999109. Furthermore, a patient from our sample trios was observed with a maternal segmental uniparental isodisomy (UPD in a region containing rs17035464. Our findings support the involvement of PDGF-C in the development of oral clefts; moreover, the UPD case report contributes to the collective knowledge of rare variants in the human genome.

  13. Tratamiento ortopédico con moldeador nasoalveolar prequirúrgico en la fisura labiopalatina unilateral Orthopaedic treatment with presurgical nasoalveolar moulding in unilateral cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Antonio José España-López

    2012-12-01

    Full Text Available Se describen 2 casos de niños con fisura labiopalatina unilateral total con gran separación de procesos alveolares, remitidos a nuestra unidad. Tras valoración por el equipo multidisciplinar se procede a realizar tratamiento ortopédico mediante moldeamiento nasoalveolar prequirúrgico durante 3,5 meses en un caso y 2 meses en el otro. A los 9 meses se mantiene la coalescencia de ambos procesos alveolares y la simetría nasal en ambos pacientes, existiendo una buena proyección de la punta nasal y longitud de la columela.We present two cases of children with total unilateral cleft lip and palate with a marked separation of alveolar segments. After evaluation by a multidisciplinart team, he children were treated with a presurgical nasoalveolar moulding for 2 months in one of them and 3.5 months in the other. At 9 months after the presurgical nasoalveolar moulding treatment, there was improved dental arch form, the cleft edges moved closer to each other, and improved symmetry of the nose in width, height, and columella lengths in both patients.

  14. The Importance of Integration of Stakeholder Views in Core Outcome Set Development: Otitis Media with Effusion in Children with Cleft Palate.

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    Nicola L Harman

    Full Text Available Approximately 75% of children with cleft palate (CP have Otitis Media with Effusion (OME histories. Evidence for the effective management of OME in these children is lacking. The inconsistency in outcome measurement in previous studies has led to a call for the development of a Core Outcome Set (COS. Despite the increase in the number of published COS, involvement of patients in the COS development process, and methods to integrate the views of patients and health professionals, to date have been limited.A list of outcomes measured in previous research was identified through reviewing the literature. Opinion on the importance of each of these outcomes was then sought from key stakeholders: Ear, Nose and Throat (ENT surgeons, audiologists, cleft surgeons, speech and language therapists, specialist cleft nurses, psychologists, parents and children. The opinion of health professionals was sought in a three round Delphi survey where participants were asked to score each outcome using a bespoke online system. Parents and children were also asked to score outcomes in a survey and provided an in-depth insight into having OME through semi-structured interviews. The results of the Delphi survey, interviews and parent/patient survey were brought together in a final consensus meeting with representation from all stakeholders. A final set of eleven outcomes reached the definition of "consensus in" to form the recommended COS: hearing; chronic otitis media (COM; OME; receptive language skills; speech development; psycho social development; acute otitis media (AOM; cholesteatoma; side effects of treatment; listening skills; otalgia.We have produced a recommendation about the outcomes that should be measured, as a minimum, in studies of the management of OME in children with CP. The development process included input from key stakeholders and used novel methodology to integrate the opinion of healthcare professionals, parents and children.

  15. Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

    Science.gov (United States)

    Leslie, Elizabeth J.; Taub, Margaret A.; Liu, Huan; Steinberg, Karyn Meltz; Koboldt, Daniel C.; Zhang, Qunyuan; Carlson, Jenna C.; Hetmanski, Jacqueline B.; Wang, Hang; Larson, David E.; Fulton, Robert S.; Kousa, Youssef A.; Fakhouri, Walid D.; Naji, Ali; Ruczinski, Ingo; Begum, Ferdouse; Parker, Margaret M.; Busch, Tamara; Standley, Jennifer; Rigdon, Jennifer; Hecht, Jacqueline T.; Scott, Alan F.; Wehby, George L.; Christensen, Kaare; Czeizel, Andrew E.; Deleyiannis, Frederic W.-B.; Schutte, Brian C.; Wilson, Richard K.; Cornell, Robert A.; Lidral, Andrew C.; Weinstock, George M.; Beaty, Terri H.; Marazita, Mary L.; Murray, Jeffrey C.

    2015-01-01

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and European trios, and carried out a series of statistical and functional analyses. Within a cluster of strongly associated common variants near NOG, we found that one, rs227727, disrupts enhancer activity. We furthermore identified significant clusters of non-coding rare variants near NTN1 and NOG and found several rare coding variants likely to affect protein function, including four nonsense variants in ARHGAP29. We confirmed 48 de novo mutations and, based on best biological evidence available, chose two of these for functional assays. One mutation in PAX7 disrupted the DNA binding of the encoded transcription factor in an in vitro assay. The second, a non-coding mutation, disrupted the activity of a neural crest enhancer downstream of FGFR2 both in vitro and in vivo. This targeted sequencing study provides strong functional evidence implicating several specific variants as primary contributory risk alleles for nonsyndromic clefting in humans. PMID:25704602

  16. X-linked genes and risk of orofacial clefts

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Skare, Øivind; Lie, Rolv T;

    2012-01-01

    Orofacial clefts are common birth defects of complex etiology, with an excess of males among babies with cleft lip and palate, and an excess of females among those with cleft palate only. Although genes on the X chromosome have been implicated in clefting, there has been no association analysis...

  17. Strong association of variants around FOXE1 and orofacial clefting

    NARCIS (Netherlands)

    Ludwig, K.U.; Bohmer, A.C.; Rubini, M.; Mossey, P.A.; Herms, S.; Nowak, S.; Reutter, H.; Alblas, M.A.; Lippke, B.; Barth, S.; Paredes-Zenteno, M.; Munoz-Jimenez, S.G.; Ortiz-Lopez, R.; Kreusch, T.; Hemprich, A.; Martini, M.; Braumann, B.; Jager, A.; Potzsch, B.; Molloy, A.; Peterlin, B.; Hoffmann, P.; Nothen, M.M.; Rojas-Martinez, A.; Knapp, M.; Steegers-Theunissen, R.P.M.; Mangold, E.

    2014-01-01

    Nonsyndromic orofacial clefting (nsOFC) is a common, complex congenital disorder. The most frequent forms are nonsyndromic cleft lip with or without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO). Although they are generally considered distinct entities, a recent study has implicat

  18. Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

    Science.gov (United States)

    Savitha, Sathyaprasad; Sharma, S. M.; Veena, Shetty; Rekha, R.

    2015-01-01

    Background: The bone morphogenetic protein (BMP) signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P) and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A) in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations) were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99). The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41). Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality. PMID:26424979

  19. Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

    Directory of Open Access Journals (Sweden)

    Sathyaprasad Savitha

    2015-01-01

    Full Text Available Background: The bone morphogenetic protein (BMP signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99. The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41. Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.

  20. Psychological status as a function of residual scarring and facial asymmetry after surgical repair of cleft lip and palate.

    Science.gov (United States)

    Millar, Keith; Bell, Aileen; Bowman, Adrian; Brown, Denise; Lo, Tsz-Wai; Siebert, Paul; Simmons, David; Ayoub, Ashraf

    2013-03-01

    Objective : Objective measure of scarring and three-dimensional (3D) facial asymmetry after surgical correction of unilateral cleft lip (UCL) and unilateral cleft lip (UCLP). It was hypothesized that the degree of scarring or asymmetry would be correlated with poorer psychological function. Design : In a cross-sectional design, children underwent 3D imaging of the face and completed standardized assessments of self-esteem, depression, and state and trait anxiety. Parents rated children's adjustment with a standard scale. Setting : Glasgow Dental School, School of Medicine, College of Medical, Veterinary and Life Sciences. Patients : Fifty-one children aged 10 years with UCLP and 43 with UCL were recruited from the cohort treated with the surgical protocol of the CLEFTSIS managed clinical network in Scotland. Methods : Objective assessment to determine the luminance and redness of the scar and facial asymmetry. Depression, anxiety, and a self-esteem assessment battery were used for the psychological analysis. Results : Cleft cases showed superior psychological adjustment when compared with normative data. Prevalence of depression matched the population norm. The visibility of the scar (luminance ratio) was significantly correlated with lower self-esteem and higher trait anxiety in UCLP children (P  =  .004). Similar but nonsignificant trends were seen in the UCL group. Parental ratings of poorer adjustment also correlated with greater luminance of the scar. Conclusions : The objectively defined degree of postoperative cleft scarring was associated with subclinical symptoms of anxiety, depression, and low self-esteem. PMID:21846256

  1. The cleft team social worker.

    Science.gov (United States)

    Kaye, Alison; Lybrand, Sandra

    2016-04-01

    The birth of a child with significant medical problems poses challenges for most families. Congenital orofacial clefting is a common condition affecting families worldwide. Orofacial clefting requires long-term medical care and can affect multiple body systems. Having a child with a chronic medical condition such as cleft lip or palate creates many psychosocial ramifications for a family. This article describes the importance of medical social work involvement in the coordinated care for children with cleft lip and palate. Specific cases spanning prenatal care through adolescence are used to highlight the variety of complex psychosocial situations encountered in the multidisciplinary cleft team setting.

  2. 桂中地区先天性唇腭裂1021例发病因素分析%Analysis of Risk Factors of 1 021 Patients with Congenital Cleft Lip and Palate in Central Region of Guangxi

    Institute of Scientific and Technical Information of China (English)

    王伯钧; 韦元强; 玉铭; 秦小云; 韦进

    2012-01-01

    Objective To explore the risk factors of congenital cleft lip and palate in central region of Guangxi, and to investigate the preventive methods of congenital cleft lip and palate. Methods A clinical data of 1021 patients with congenital cleft lip and palate in central region of Guangxi were analyzed in the study. Results Of 1 021 patients, there were 652 men and 369 women, the ratio of male to female was 1.77 : 1,609 patients( 59.65 % ) with cleft lip, 299 patients ( 29.29% ) with cleft palate,113 patientsC 11.07% ) with cleft lip and palate. 940 patientsC 92.07% ) came from rural areas,81 patientsC 7.93% ) from towns;The proportion of patients from rural areas was significantly higher than that of patients from the city. The risk factors ranked in the top three as follows: flu occurred in the first 3 months of pregnancy ( 53. 57% ), pregnancy malnutrition( 14. 40% ), medicine intake during pregnancy( 9. 40% ). 954 patients ( 93. 43% ) with congenital cleft lip and palate experienced risk factors in the early stage of pregnancy,46 patients ( 4.50% ) had familial genetic history. Conclusion Virus infection and nutritional factors are the major risk factors of incidence of congenital cleft lip and palate. It should be paid more attention to universal health care knowledge during pregnancy to reduce the incidence of congenital cleft lip and palate.%目的 分析桂中地区先天性唇腭裂的发病因素,探讨先天性唇腭裂的预防方法.方法 对桂中地区先天性唇腭裂1 021例患者的临床资料进行分析.结果 1 021例患者中,男652例,女369例,男女之比为1.77:1;唇裂609例(59.65%),腭裂299例(29.29%),唇腭裂113例(11.07%).患者来自农村 940例(92.07%),城镇81例(7.93%),农村比例明显高于城市.发病因素前3位分别是妊娠前3个月感冒(53.57%)、孕期营养缺乏(14.40%)、孕期服药(9.30%).孕早期经历危险因素954例占93.43%,有家族遗传病史者46例占4.51%.结论 病毒感染及营养因素是先

  3. Crecimiento maxilar según severidad de hendidura labial, alveolar y palatina unilateral Maxillary growth according to the severity of unilateral cleft lip and palate

    Directory of Open Access Journals (Sweden)

    M.C. Navas-Aparicio

    2012-12-01

    ón de crecimiento anterior del maxilar. Como conclusión, la asimetría transversal del arco maxilar fue el hallazgo más importante en este estudio. Se debe realizar un nueva investigación con respecto a la dimensión transversal del maxilar en niños con labio y paladar hendido, ya que existe una alteración de la misma. La posición anterior del maxilar y la longitud del maxilar no estuvieron influenciadas por la severidad de la hendidura. Es importante considerar que el crecimiento maxilar puede estar afectado por factores individuales, tales como el patrón facial genético. De igual manera, deberá efectuarse también un nueva medición hasta que el crecimiento de la cara haya finalizado.The inhibition of the growth and development resulting of a surgical treatment in patients with cleft lip and palate is a widely discussed topic in the world. According to literature, tissue deficiency, probably due to the cleft width and position of the alveolar segments, is a considerable variable that affects the growth of the maxilla, which is also influenced by the surgical correction of the lip, the nose and the palate by scarring, types of surgical treatment, time of the surgery, surgeon skills and pre-surgical orthopedics. The purpose of this study was to determine the possible associations between the severity of cleft and maxillary growth in patients with non-syndromic unilateral cleft lip and palate, who were born in 2001 and treated at the Hospital Nacional de Niños "Dr. Carlos Sáenz Herrera", Caja Costarricense de Seguro Social, San José, Costa Rica. The study was retrospective and descriptive, based on data obtained from medical records, initial maxillary study casts of the newborn child, cephalometric radiograph and the present study casts of the child at the age of 5 years. The study sample comprised of 13 patients. The maxillary transverse arch of 12 cases was asymmetric, indicating an alteration of growth in this direction. There is a statistically

  4. Research progress on dermatoglyphic features in non-syndromic cleft lip and palate%非综合征性唇腭裂的皮纹学研究进展

    Institute of Scientific and Technical Information of China (English)

    马红芳; 石佳玉

    2012-01-01

    Non-syndromic cleft lip with or without cleft palate is a common birth defect. The relationship between cleft lip and palate and dermatoglyphic features is widely recognized, frequently studied, and poorly understood. We summarized a select group of articles on this topic, and discussed the current understanding of dermatoglyphic features in individuals with cleft and their parents, as well as the relative heredity diseases, oral diseases, epidemiology in this article.%非综合征性唇腭裂是口面部常见的先天性畸形之一,近年来,很多学者对非综合征性唇腭裂患儿及其家属的皮纹学特征进行了一系列研究,并且已经获得了一定的成果.本文就皮纹学与非综合征性唇腭裂等相关遗传疾病、口腔疾病的关系及其流行病学特征等研究进展作一综述.

  5. Polymorphic human (CTAT)n microsatellite provides a conserved linkage marker for mouse mutants causing cleft palate, vestibular defects, obesity and ataxia

    Energy Technology Data Exchange (ETDEWEB)

    Griffith, A.J.; Burgess, D.L.; Kohrman, D. [Univ. of MIchigan, Ann Arbor, MI (United States)] [and others

    1994-09-01

    The Twirler mutation (Tw) causing cleft palate {plus_minus} cleft lip, vestibular defects and obesity is located within 0.5 cM of an ataxia locus (ax) on mouse chromosome 18. We identified a transgene-induced insertional mutation with vestibular and craniofacial defects that appears to be a new allele of Twirler. Mouse DNA flanking the transgene insertion site was isolated from a cosmid library. An evolutionarily conserved, zoo blot positive cosmid subclone was used to probe a human {lambda} genomic library. From the sequence of a highly homologous human {lambda} clone, we designed STS primers and screened a human P1 library. DNA from two positive P1 clones was hybridized with simple sequence probes, and a (CTAT){sub 12} repeat was detected. Analysis of 62 CEPH parents with primers flanking the repeat identified six alleles containing 9 to 14 copies of the repeat, at frequencies of 0.17, 0.17, 0.17, 0.27, 0.15 and 0.07, respectively. The observed heterozygosity was 49/62 with a calculated PIC value of 0.76. This polymorphic microsatellite marker, designated Umi3, was mapped to the predicted conserved human linkage group by analysis of somatic cell hybrid panels. The anticipated short distance between Umi3 and the disease genes will facilitate detection of linkage in small families. We would like to type appropriate human pedigrees with Umi3 in order to identify patients with inherited disorders homologous to the mouse mutations Twirler and ataxia.

  6. Feeling Normal? Long-Term Follow-up of Patients with a Cleft Lip-Palate after Rhinoplasty with the Derriford Appearance Scale (DAS-59).

    Science.gov (United States)

    Albers, Andreas E; Reichelt, Andreas C; Nolst-Trenité, Gilbert J; Menger, Dirk Jan

    2016-04-01

    The stigma of nasal deformity due to a congenital cleft lip-palate has an undeniable influence on the affected patient's life. It is therefore of interest to investigate if efforts to reduce esthetic and functional impairments by rhinoplasty (single or multiple) can result in an increased satisfaction with appearance and a self-perception similar to the noncleft population. Retrospective scoring before and after rhinoplasty using the validated Derriford Appearance Scale (DAS-59) and subsequent statistical evaluation and comparison to datasets available in the literature for further classification was used. Of the 61 patients who underwent at least one rhinoplasty, 26 responded to all questions. The mean age of responders was approximately 30 years of age and the male:female ratio was 1:1.2. The scale showed a significant overall improvement after surgery. The full scale and all subscale scores of the DAS-59 were significantly reduced after surgery demonstrating an improvement in the respective categories. Most importantly, if postoperative results were compared with a population concerned and unconcerned about appearance, no difference "facial self-consciousness" of appearance was apparent. Also postoperative subscores for "general self-consciousness" (GSC) and "social self-consciousness" of appearance (SSC) showed no difference from those obtained from the population concerned about appearance. The postoperative subscore for "sexual and bodily self-consciousness" of appearance (SBSC) indicated improvement beyond the level found in the concerned control population. Due to only a low improvement in the difference compared with the subscore representing a "negative self-concept," a statistically significant difference to the concerned population remained, possibly indicating that therapy beyond surgery is needed for improvement. After rhinoplasty, the investigated group of cleft lip-palate patients with nasal deformities showed an improvement in their self

  7. Crecimiento sagital maxilar en fisurados unilaterales operados funcionalmente Sagittal maxillary growth in unilateral cleft lip and palate patients following functional surgery

    Directory of Open Access Journals (Sweden)

    F. Donoso Hofer

    2007-06-01

    Full Text Available Objetivo. Comparar el crecimiento sagital maxilar en pacientes con fisura labio-máxilo-palatina unilateral operados a los 6 meses con criterio funcional con pacientes normales que tengan relación consanguínea directa con los anteriores. Diseño del estudio. Análisis arquitectural y craneofacial de Delaire en telerradiografías de perfil en ambos grupos de pacientes cuyas edades fluctúan actualmente entre los 7 y los 12 años, determinando el crecimiento sagital del maxilar a través de la medida del ángulo del pilar maxilar anterior (C1/F1, sometiendo las medidas al test T de Student con una significación del 99,5%. Resultados.Se determinó el valor real y esperado para el ángulo del pilar maxilar anterior en todos los casos. Al comparar estadísticamente los resultados, no se encontraron diferencias significativas en los valores promedios obtenidos. Conclusiones.El crecimiento sagital maxilar de los pacientes con fisura labio-máxilo-palatina unilateral operados a los 6 meses con criterio funcional no difiere del de aquellos pacientes normales.Objective. To compare the sagittal maxillary growth between unilateral cleft lip and palate patients operated under functional criterion at the age of 6 months and normal patients who were blood-related. Design. Delaire’s Architectural and Structural craniofacial analysis in conventional lateral radiographs of all the patients with an age range of 7-12 years, determining the sagittal maxillary growth by the anterior maxillary pillar angle (C1/F1. These measurements were analyzed using the T-test with a 99.5% significance. Results. The real and expected value of the anterior maxillary pillar angle was determined in all cases. By comparing the results statistically, no significant differences were found in the mean values obtained. Conclusion. Maxillary sagittal growth in unilateral cleft lip and palate patients operated at the age of 6 months under functional criterion, does not differ from the

  8. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  9. Fissuras lábio palatinas não sindrômicas: relação entre o sexo e a extensão clínica Non sindromic cleft lip and palate: relationship between sex and clinical extension

    Directory of Open Access Journals (Sweden)

    Daniella Reis Barbosa Martelli

    2012-10-01

    Full Text Available A fenda labial e/ou palatina representa a anomalia congênita mais comum na face. OBJETIVO: Descrever a correlação existente entre a fenda labial e/ou palatina não sindrômica e gênero e sua gravidade na população brasileira. MÉTODO: Estudo transversal, conduzido entre 2009 e 2011, em uma amostra de 366 pacientes. Os dados foram analisados com estatística descritiva e regressão logística multinomial com intervalo de 95% para estimar a probabilidade dos tipos de fenda labial e/ou palatina afetar os gêneros. RESULTADOS: Entre os 366 casos de fenda labial e/ou palatina não sindrômica, as fendas mais frequentes foram a fenda lábio-palatina, seguida, respectivamente, pela fenda labial e fenda palatina. As fendas palatinas foram mais frequentes entre as mulheres e a fenda lábio-palatina e fenda labial apenas predominaram nos homens. O risco de fenda labial em relação à fenda palatina foi de 2,19 vezes maior em homens quando comparados às mulheres; enquanto o risco de fenda labial e palatina em relação à fenda palatina apenas foi 2,78 vezes em homens, quando comparados às mulheres. CONCLUSÃO: Este estudo mostrou que há diferenças na distribuição de fendas labiais e/ou palatinas não sindrômicas entre homens e mulheres.Cleft lip and/or palate represent the most common congenital anomaly of the face. AIM: To describe the correlation between non-syndromic cleft lip and/or palate and gender, and its severity in the Brazilian population. METHODS: Cross-sectional study, between 2009 and 2011, in a sample of 366 patients. The data was analyzed with descriptive statistics and multinomial logistic regression with a 95% interval to estimate the likelihood of the types of cleft lip and/or palate affecting the genders. RESULTS: Among the 366 cases of non-syndromic cleft lip and/or palate, the more frequent clefts were cleft lip and palate, followed respectively by cleft lip and cleft palate. The cleft palates were more frequent in

  10. A Preliminary Three-Dimensional Analysis of Nasal Aesthetics Following Le Fort I Advancement in Patients With Cleft Lip and Palate.

    Science.gov (United States)

    Davidson, Edward; Kumar, Anand R

    2015-10-01

    Nasal aesthetic changes after cleft orthognathic surgery remain understudied. Previous scarring associated with prior cleft surgery may affect the predictability of outcomes after jaw surgery. This study evaluates changes in nasal aesthetics using three-dimensional photography after Le Fort I advancement in patients with nonsyndromic cleft-related maxillary hypoplasia. Cephalometric parameters were recorded pre- and postoperatively. Three-dimensional photogrammetric imaging analyzed changes in interalar width (IAW), internostril width (INW), nasal tip projection (NTP), collumelar length (CL), nasal labial angle (NLA), and nasal length (NL). Statistical significance between pre- and postoperative data was determined using T-tests for each parameter. Eleven patients underwent either single piece Le Fort I osteotomy and advancement, (3 bilateral, 4 unilateral cleft lip, and palate), or 2-piece advancement (2 bilateral, 2 unilateral). Average nasal soft tissue changes were IAW 1.9 mm (0.4-4.2), INW -0.2 mm (-2.8 to 1.6), NTP -1.0 mm (-4.0 to 2.0), CL -0.7 mm (-2.9 to 1.5), NLA -0.2° (-13.9 to 15.1), and NL -0.7 mm (-4.3 to 1.5), (P = 0.001, 0.6, 0.08, 0.01, 0.9, 0.2). For single-piece osteotomy alone changes were IAW 2.1 mm (0.6-4.1), INW -0.6 mm (-2.8 to 1.7), NTP -1.9 mm (-4.0 to 0.3), CL -1.2 mm (-2.9 to 0.03), NLA -1.3° (-13.9 to 15.0), and NL -1.1 mm (-4.3 to 0.7), (P = 0.007, 0.3, 0.009, 0.0002, 0.7, 0.2). For 2-piece osteotomy alone changes were IAW 1.6 mm (-0.4 to 3.3), INW 0.5 mm (0.4-1.6), NTP 0.5 mm (-1.1-2.0), CL 0.2 mm (-1.4 to 1.5), NLA 2.8° (-7.6 to 10.1), and NL -0.1 mm (-1.4 to 1.5), (P = 0.2, 0.4, 0.5, 0.6, 0.5, 0.9). Cleft-related scarring and malposition affect changes in nasal aesthetics following maxillary advancement that are different to the noncleft population. Two-piece Le Fort I increases variability of changes in nasal aesthetics compared with single-piece advancement.

  11. Difference in the Surgical Outcome of Unilateral Cleft Lip and Palate Patients with and without Pre-Alveolar Bone Graft Orthodontic Treatment

    Science.gov (United States)

    Chang, Chun-Shin; Wallace, Christopher Glenn; Hsiao, Yen-Chang; Chiu, Yu-Ting; Pai, Betty Chien-Jung; Chen, I-Ju; Liao, Yu-Fang; Liou, Eric Jen-Wein; Chen, Philip Kuo-Ting; Chen, Jyh-Ping; Noordhoff, M. Samuel

    2016-01-01

    Presurgical orthodontic treatment before secondary alveolar bone grafting (SABG) is widely performed for cleft lip/palate patients. However, no randomized controlled trial has been published comparing SABG outcomes in patients with, and without, presurgical orthodontic treatment. This randomized, prospective, single-blinded trial was conducted between January 2012 and April 2015 to compare ABG volumes 6 months postoperatively between patients with and without presurgical orthodontic treatment. Twenty-four patients were enrolled and randomized and 22 patients completed follow-up. Patients who had presurgical orthodontics before SABG had significantly improved inclination (p < 0.001) and rotation (p < 0.001) of the central incisor adjacent to the defect, significantly improved ABG fill volume (0.81 ± 0.26 cm3 at 6 months compared to 0.59 ± 0.22 cm3; p < 0.05) and less residual alveolar bone defect (0.31 ± 0.08 cm3 at 6 months compared to s 0.55 ± 0.14 cm3; p < 0.001) compared to patients who did not have presurgical orthodontic treatment. In conclusion, orthodontic treatment combined with SABG results in superior bone volume when compared with conventional SABG alone. PMID:27041697

  12. Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults

    Directory of Open Access Journals (Sweden)

    Gressner Axel M

    2004-06-01

    Full Text Available Abstract Background Clefts of the lip, alveolus, and palate (CLPs rank among the most frequent and significant congenital malformations. Leu10Pro and Arg25Pro polymorphisms in the precursor region and Thr263Ile polymorphism in the prodomain of the transforming growth factor β1 (TGF-β1 gene have proved to be crucial to predisposition of several disorders. Methods In this study, polymorphism analysis was performed by real-time polymerase chain reaction (LightCycler and TGF-β1 levels determined by enzyme-linked immunosorbent assay. Results Only 2/60 Caucasian non-syndromic patients with CLP (3.3% carried the Arg25Pro and another 2/60 patients (3.3% the Thr263Ile genotypes, whereas, in a control group of 60 healthy Caucasian blood donors, these heterozygous genotypes were more frequent 16.7% having Arg25Pro (10/60; p Conclusions The genetic differences in codons 25 and 263 suggest that TGF-β1 could play an important role in occurrence of CLP, however, functional experiments will be required to confirm the mechanisms of disturbed development.

  13. Resultados del manejo multidisciplinario del labio y paladar fisurado unilateral Results of the multidisciplinary management of unilateral cleft lip and palate patients

    Directory of Open Access Journals (Sweden)

    M. Estrada Sarmiento

    2007-06-01

    Full Text Available Se diseñó un modelo para evaluar el protocolo y la estrategia del equipo multidisciplinario para el tratamiento del labio y paladar fisurado unilateral en el Servicio de Cirugía Máxilo Facial del Hospital Provincial Universitario "Carlos Manuel de Céspedes" de Bayamo. Cuba. El estado presente de 60 pacientes de 14-22 años de edad fue evaluado por un cirujano máxilo facial, un ortodoncista y un foníatra. Los resultados indicaron que más de la mitad de esos pacientes tenían completado el tratamiento por uno de los especialistas. Solo 27 pacientes (16,2% habían completado el tratamiento por los tres especialistas. Los factores que contribuyeron a este porcentaje fueron discutidos.A model was designed to evaluate the protocol and strategy of the interdisciplinary team treating unilateral cleft lip and palate patients at the Maxillofacial Surgery department of the "University Provincial Hospital Carlos Manuel de Cespedes" Bayamo, Granma, Cuba. A maxillofacial surgeon, an orthodontist and a phoniatrician evaluated the current state of 60 patients with ages ranging between 14 and 22. The results showed that more than half of the patients had finished their treatment by one of the specialists. Only 27 patients (16.2% had completed their treatment by the three specialists. The factors contributing to these percentages are discussed.

  14. Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.

    Science.gov (United States)

    Tzschach, Andreas; Grasshoff, Ute; Schäferhoff, Karin; Bonin, Michael; Dufke, Andreas; Wolff, Markus; Haas-Lude, Karin; Bevot, Andrea; Riess, Olaf

    2012-07-01

    Interstitial deletions of chromosome bands 9q34.11-q34.13 are rare. We report on a 16-year-old female patient with severe intellectual disability, congenital hydrocephalus, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs. Array analysis revealed a 3.7 Mb interstitial deletion in 9q34.11-q34.13. The deletion harbors more than 60 genes, including SPTAN1, DYT1/TOR1A, ABL1, ASS1, LAMC3, POMT1, DOLK, and GLE1, mutations in which have previously been associated with monogenic disorders. This is the first patient with a deletion of this size and position in 9q34.11-q34.13. Reports of additional patients with aberrations in this region will be needed to establish karyotype-phenotype correlations and to gain information on the contribution of individual genes for the clinical manifestations. PMID:22639460

  15. A habilidade de atenção auditiva sustentada em crianças com fissura labiopalatina e transtorno fonológico Sustained auditory attention ability in children with cleft lip and palate and phonological disorders

    Directory of Open Access Journals (Sweden)

    Tâmyne Ferreira Duarte de Moraes

    2011-12-01

    Full Text Available OBJETIVO: Verificar a habilidade de atenção auditiva sustentada em crianças com fissura labiopalatina e transtorno fonológico, comparando o desempenho com crianças com fissura labiopalatina e ausência de transtorno fonológico. MÉTODOS: Dezessete crianças com idade entre 6 e 11 anos, com fissura labiopalatina transforame unilateral operada e ausência de queixa e/ou alteração auditiva, separadas em dois grupos: GI (com transtorno fonológico e GII (com auŝencia de transtorno fonológico. Para detecção de alteração auditiva foram realizadas audiometria e timpanometria. Para avaliação fonológica foram utilizados os seguintes instrumentos: Teste de Linguagem Infantil e Consciência Fonológica: Instrumento de Avaliação Sequencial. Para avaliar a habilidade de atenção auditiva foi aplicado o Teste da Habilidade de Atenção Auditiva Sustentada. RESULTADOS: Das sete crianças com transtorno fonológico (41%, duas (29% apresentaram alteração nos resultados do Teste da Habilidade de Atenção Auditiva Sustentada. Não houve diferença entre as crianças com fissura labiopalatina e transtorno fonológico e as crianças com fissura labiopalatina e ausência de transtorno fonológico quanto aos resultados do Teste de Habilidade de Atenção Auditiva Sustentada. CONCLUSÃO: A habilidade de atenção auditiva sustentada nas crianças com fissura labiopalatina e transtorno fonológico não difere da habilidade de atenção auditiva sustentada de crianças com fissura labiopalatina sem transtorno fonológico.PURPOSE: To verify the ability of sustained auditory attention in children with cleft lip and palate and phonological disorder, in comparison with the performance of children with cleft lip and palate and absence of phonological disorder. METHODS: Seventeen children with ages between 6 and 11 years, with repaired unilateral complete cleft lip and palate and absence of auditory complaints or hearing problems, were divided into two

  16. [Palatal necrosis in children. Case report].

    Science.gov (United States)

    Sancho, M A; Parri, F J; Raigosa, J M; Lerena, J; Cacéres, F; Muñoz, M E

    2006-04-01

    Palate necrosis as a consequence of palate infection it's an exceptional condition about there's not too much references at literature. We present a case of a 6 months old child who present a palatal necrosis after a supurative medial otitis that involved hard and soft palate, with positive culture for Pseudomona aeruginosa causing a almost complete absence of the palate that simulate a bilateral palatal cleft. PMID:16846136

  17. Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population

    Energy Technology Data Exchange (ETDEWEB)

    Shi, Jinna, E-mail: kqkjk@yahoo.com.cn [Department of Periodontology, The First Affiliated Hospital, Harbin Medical University, Harbin (China); Song, Tao; Jiao, Xiaohui [Department of Oral Maxillofacial Surgery, The First Affiliated Hospital, Harbin Medical University, Harbin (China); Qin, Chunlin [Department of Biomedical Sciences, Texas A and M Health Science Center, Baylor College of Dentistry, Dallas, TX (United States); Zhou, Jin [Department of Hematology, The First Affiliated Hospital, Harbin Medical University, Harbin (China)

    2011-07-15

    Highlights: {yields} IRF6 rs642961 polymorphism is intensively associated with NSCLP. {yields} IRF6 rs2235371 polymorphism is not associated with NSCLP in the northern Chinese population. {yields} This investigation failed to yield any evidence for the involvement of TFAP2A polymorphisms in NSCLP in the northern Chinese population. -- Abstract: Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect that is presumably caused by genetic factors alone or gene alterations in combination with environmental changes. A number of studies have shown an association between NSCLP and single-nucleotide polymorphisms (SNPs) in the interferon regulatory factor 6 (IRF6) gene in several populations. The transcription factor AP-2a (TFAP2A), which is involved in regulating mid-face development and upper lip fusion, has also be considered a candidate gene contributing to the etiology of NSCLP. The potential importance of IRF6 and TFAP2A in the NSCLP is further highlighted by a study showing that the two molecules are in the same developmental pathway. To further assess the roles of the IRF6 and TFAP2A in NSCLP, we investigated two identified IRF6 SNPs (rs2235371, rs642961) and three TFAP2A tag SNPs (rs3798691, rs1675414, rs303050) selected from HapMap data in a northern Chinese population, a group with a high prevalence of NSCLP. These SNPs were examined for association with NSCLP in 175 patients and 160 healthy controls. We observed a significant correlation between IRF6 rs642961 and NSCLP, and a lack of association between IRF6 rs2235371 polymorphisms and NSCLP in this population. This investigation indicated that there is no association between the three SNPs in the TFAP2A and NSCLP, suggesting that TFAP2A may not be involved in the development of NSCLP in the northern Chinese population. Our study provides further evidence regarding the role of IRF6 variations in NSCLP development and finds no significant association between TFAP2A and NSCLP in this

  18. State of the art in oral and maxillofacial surgery: treatment of maxillary hypoplasia and anterior palatal and alveolar clefts.

    Science.gov (United States)

    Steinberg, B; Padwa, B L; Boyne, P; Kaban, L

    1999-07-01

    As the new millennium approaches, it seems appropriate to look back at where we have been and where we are going with the care of patients with facial deformities. None of us can deny that although changes have been made, many current treatment modalities are no more than modifications of old techniques. We are, however, poised to make dramatic improvements in the management of facial abnormalities as we enter the new century and millennium. Biotechnology, genetic manipulation, and new surgical technology will become pervasive, and perhaps we will move from "modification" of the old into a completely new era of therapeutic approaches to the care of dentofacial deformities. "Opportunities multiply as they are seized" (from Sun Tzu), and the time of opportunity is approaching. This review will attempt to look at the state of the art in cleft care and in oral and maxillofacial surgery: where we have been and where we are going. It will be clear that there is overlap between specialties and that these overlaps will become greater as new regimens in the care of facial deformities come to the forefront.

  19. Relational development in children with cleft lip and palate: influence of the waiting period prior to the first surgical intervention and parental psychological perceptions of the abnormality

    Directory of Open Access Journals (Sweden)

    Grollemund Bruno

    2012-06-01

    Full Text Available Abstract Background The birth of a child with a cleft lip, whether or not in association with a cleft palate, is a traumatic event for parents. This prospective, multidisciplinary and multi-centre study aims to explore the perceptions and feelings of parents in the year following the birth of their child, and to analyse parent–child relationships. Four inclusion centres have been selected, differing as to the date of the first surgical intervention, between birth and six months. The aim is to compare results, also distinguishing the subgroups of parents who were given the diagnosis in utero and those who were not. Methods/Design The main hypothesis is that the longer the time-lapse before the first surgical intervention, the more likely are the psychological perceptions of the parents to affect the harmonious development of their child. Parents and children are seen twice, when the child is 4 months (T0 and when the child is one year old (T1. At these two times, the psychological state of the child and his/her relational abilities are assessed by a specially trained professional, and self-administered questionnaires measuring factors liable to affect child–parent relationships are issued to the parents. The Alarme Détresse BéBé score for the child and the Parenting Stress Index score for the parents, measured when the child reaches one year, will be used as the main criteria to compare children with early surgery to children with late surgery, and those where the diagnosis was obtained prior to birth with those receiving it at birth. Discussion The mental and psychological dimensions relating to the abnormality and its correction will be analysed for the parents (the importance of prenatal diagnosis, relational development with the child, self-image, quality of life and also, for the first time, for the child (distress, withdrawal. In an ethical perspective, the different time lapses until surgery in the different protocols and their

  20. Alimentação do lactente portador de lesão lábio-palatal: aleitamento e introdução alimentar Nourishment of the infant with cleft lip and palate lactant: nursing and nourishing introduction

    Directory of Open Access Journals (Sweden)

    Juliana Genovez PINI

    2001-12-01

    Full Text Available São inquestionáveis as vantagens do leite materno para o neonato. Na sua impossibilidade, é necessária a introdução do leite artificial e de alimentação adequada como forma de reposição de nutrientes, respeitando-se a maturação neuro-fisiológica da criança. Para o estudo, foram investigadas 60 crianças de 2 a 4 anos, de ambos os sexos, portadoras de lesão lábio-palatal, pacientes do Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, quanto a sua história dietética pregressa (aleitamento e introdução alimentar e peso e estatura atuais, a fim de verificar possíveis influências no estado nutricional relacionadas à sua alimentação no primeiro ano de vida. Os dados obtidos mostraram que o aleitamento materno foi significativo, e que o desmame, o aleitamento artificial e a introdução alimentar, apesar de inadequados, pouco influenciaram na antropometria atual.The advantages of the mother's milk for the newborn infants are unquestionable. In its impossibility, it is necessary the introduction of the artificial milk and adequate food as an alternative way of replacing nutrients, respecting the child's neurophysiological maturing. For this study, 60 children aged 2 to 4 years old (male and female, carriers of cleft lip and palate, who were patients of the Hospital de Reabilitação de Anomalias Craniofaciais at the Universidade de São Paulo in the city of Bauru, were investigated, considering their earlier dietary history (nursing and nourishing introduction and present weight and height, in order to verify possible influences on nutritional status related to their feeding in the first year of life. The obtained data showed that the nursing was significant, and that the weaning, the artificial nursing and the nourishing introduction, in spite of inadequate, hardly influenced the current anthropometry.

  1. Vitamin A and clefting: putative biological mechanisms

    NARCIS (Netherlands)

    Ackermans, M.M.; Zhou, J.H.; Carels, C.E.L.; Wagener, F.A.D.T.G.; Hoff, J.W. Von den

    2011-01-01

    Nutritional factors such as vitamin intake contribute to the etiology of cleft palate. Vitamin A is a regulator of embryonic development. Excess vitamin A can cause congenital malformations such as spina bifida and cleft palate. Therefore, preventive nutritional strategies are required. This review

  2. Is an isolated cleft lip an isolated anomaly?

    NARCIS (Netherlands)

    Deelder, J. D.; Breugem, C. C.; de Vries, Iris; de Bruin, M.; van der Molen, A. B. Mink; van der Horst, C. M. A. M.

    2011-01-01

    Introduction: It is well known that patients with cleft lip/palate or cleft palate can have associated anomalies. However, there is a relative paucity of information about the possible anomalies associated with an isolated cleft lip. A recent study (Vallino et al., 2008) showed that children with cl

  3. Case report: unusual dental morphology in a child with ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

    LENUS (Irish Health Repository)

    Fitzgerald, K

    2012-02-01

    BACKGROUND: Anomalies of dental anatomy are common in the ectodermal dysplasia syndromes. These anomalies, when found in combination with dental caries, can pose a restorative challenge for the paediatric dentist. Modification of traditional techniques and approaches may help the practitioner provide a successful treatment outcome. CASE REPORT: A 3 years and 11 months old girl with a diagnosis of ankyloblepharon-ectodermal dysplasiacleft lip\\/palate (AEC) syndrome was referred for treatment to a specialist paediatric dental service. Her abnormal dental anatomy, hypodontia and dental caries formed a triad of challenges for the team. Under general anaesthesia, her dentition was restored using a combination of restorative approaches and techniques, including the placement of both composite resin and preformed metal crown restorations. FOLLOW-UP: At 18-month followup, the family had successfully implemented good home care and dietary practices, and the local dental service had instituted a preventive programme consisting of regular examination, advice and fluoride varnish placement. The restorations remained intact and no further caries was detected. At 24-month follow-up, the first permanent molars were partially erupted, and displayed unusually deep fissures. There was also a degree of ectopic eruption of the first permanent molars, and possibly of one of the maxillary permanent incisors. CONCLUSION: Dental care for children with AEC syndrome is optimised by early intervention, good home care and regular professional review. Dental care providers should be aware of the possibility of complex dental anatomy, and bear this in mind should it become necessary to formulate a restorative treatment plan.

  4. Dental anomalies in different cleft groups related to neural crest developmental fields contributes to the understanding of cleft aetiology

    DEFF Research Database (Denmark)

    Riis, Louise Claudius; Kjær, Inger; Mølsted, Kirsten

    2014-01-01

    OBJECTIVE: To analyze dental deviations in three cleft groups and relate findings to embryological neural crest fields (frontonasal, maxillary, and palatal). The overall purpose was to evaluate how fields are involved in different cleft types. DESIGN: Retrospective audit of clinical photographs......, radiographs, dental casts, and medical records. PATIENTS: Ninety individuals (30 cleft lip, 30 cleft palate, and 30 combined cleft lip and palate), aged 5-27 years. MAIN OUTCOME MEASURES: Visual evaluation of tooth number and tooth morphology. RESULTS: Cleft lip: Dental deviations were predominantly observed...

  5. Patrones de cierre velofaringeo: Estudio comparativo entre población sana y pacientes con paladar hendido Patterns of velopharyngeal closure: comparative study between healthy population and patients with cleft palate

    Directory of Open Access Journals (Sweden)

    J.R. Prada Madrid

    2010-12-01

    its frequency of appearance in a non-probabilistic sample with healthy volunteers and to compare these findings with the ones obtained in patients with surgically repaired cleft lip and palate. We designed a descriptive study of cross section. The evaluations were made in a fourth level hospital and in the Rehabilitation Centre for Children with Cleft lip and Palate (FISULAB, Santa fe de Bogotá (Colombia. One hundred healthy volunteers (university students and 82 patients with surgically repaired cleft palate participated in the study. Videonasopharyngoscopy was performed to determine patterns of velopharyngeal closure present and their frequency of appearance. The statistical analysis indicate that there is no difference in the frequency of presentation of the patterns of velopharyngeal closure between healthy volunteers and the patients with cleft palate. In the healthy group, the most frequently found pattern was the circular (56% of the sample, followed by the coronal (29 % and circular with Passavant´s ridge (15 %. In the group of patients with cleft lip and palate, the circular pattern also prevails (39,02 %, followed by the coronal pattern (24,39 %, and the circular pattern with Passavant´s ridge (19,51 %. In neither group was found the sagittal pattern. As a conclusion, there was not any statistical difference in the frequency of presentation of the patterns of velopharyngeal closure between the healthy volunteers and the patients with cleft palate.

  6. 大龄腭裂患者咽后壁组织瓣咽成形术后语音特征%Articulatory characteristics of cleft palate patients over eight years old after pharyngoplasty with posterior pharyngeal flap

    Institute of Scientific and Technical Information of China (English)

    秦瑞峰; 胡开进; 封兴华; 吴炜

    2005-01-01

    背景:根据唇腭裂序列治疗的现代概念,腭裂修复应在语音发育开始前即出生后9~12个月左右进行,但由于诸多因素延误了就诊和手术时机,仍存在一些大于8岁而未手术的腭裂患者.选择合适的手术方法进行治疗,使发音功能及腭部外形得以改善显得更为重要. 目的:探讨对大龄(8岁以上)腭裂患者的特点,同期行腭裂关闭术和咽后壁组织瓣转移术对语音的影响,以提高修复效果. 设计:以患者为观察对象,对照观察. 单位:解放军第四军医大学口腔医学院的颌面外科. 对象:选择2000-01/2003-12第四军医大学口腔医学院颌面外科收治大龄腭裂患者24例,男14例,女10例;年龄8~20岁,平均13.8岁;双侧完全性腭裂3例,单侧完全性腭裂12例,不完全性腭裂9例. 方法:全部腭裂均采用常规的两瓣后推术和蒂在上的咽后壁组织瓣转移术.术后30 d在安静的语音实验室内,麦克风距受试者唇10 cm,由医生领读,患者随读,录音.由5名从事语音病理研究的医师进行主观判听. 主要结局观察:术前术后用鼻咽纤维镜检测其腭咽闭合情况,评价患者鼻漏气及过重鼻音改善情况. 结果:24例腭裂修复术后创口均达到Ⅰ期愈合,软腭后退良好,腭咽闭合改善明显,为发音创造了条件,语音也有不同程度改善.同期行腭裂关闭术和咽后壁组织瓣转移术前过重鼻音、鼻漏气4级患者24例,术后过重鼻音、鼻漏气1级患者3例,2级患者7例,3级患者6例,4级患者8例. 结论:大龄腭裂患者同时采用腭裂关闭术及咽成形术的方法修复,有利于改善软腭的形态和发音.%BACKGROUND: According to up-to-date development, the best timing to repair cleft palateis at 9-12 months old after birth when the articulation does not begin to develop.However, there are many over-eight-year-old children who still suffer from unrepaired cleft palate. Therefore, it is veryimportant to adopt proper

  7. Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate

    Directory of Open Access Journals (Sweden)

    Tânia Kawasaki Araújo

    2012-01-01

    Full Text Available Cleft lip with or without palate (CL±P is common congenital anomalies in humans. Experimental evidence has demonstrated that bone morphogenetic protein 4 gene (Bmp4 is involved in the etiology of CL±P in animal models. The nonsynonymous polymorphism rs17563 T>C (p.V152A in the BMP4 gene has been associated to the risk of nonsyndromic CL±P in Chinese population and microforms from different ethnic backgrounds. The aim of this study was to investigate the role of BMP4 gene in CL±P in Brazilian sample using genetic association approach. Our sample was composed by 123 patients with nonsyndromic CL±P and 246 controls, in which absence of CL±P was confirmed in 3 generations. The rs17563 polymorphism was genotyped by PCR-RFLP technique. Logistic regression was performed to evaluate allele and genotype association. Our data showed statistical power to detect association (86.83% in this sample. Logistic regression results showed significant association between C allele and CL±P (P=0.00018, OR =0.40, and 95% CI = 0.25–0.65, as well as CC genotype and CL±P (P=0.00018, OR =0.35, and 95% CI = 0.19–0.66. So, there is a strong association between nonsyndromic CL±P and BMP4 rs17563 polymorphism in our sample and the C allele had a protective effect against the occurrence of nonsyndromic CL±P.

  8. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

    Science.gov (United States)

    Møller, R S; Jensen, L R; Maas, S M; Filmus, J; Capurro, M; Hansen, C; Marcelis, C L M; Ravn, K; Andrieux, J; Mathieu, M; Kirchhoff, M; Rødningen, O K; de Leeuw, N; Yntema, H G; Froyen, G; Vandewalle, J; Ballon, K; Klopocki, E; Joss, S; Tolmie, J; Knegt, A C; Lund, A M; Hjalgrim, H; Kuss, A W; Tommerup, N; Ullmann, R; de Brouwer, A P M; Strømme, P; Kjaergaard, S; Tümer, Z; Kleefstra, T

    2014-05-01

    Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include intellectual disability, microcephaly, short stature, hypotonia, hypogonadism and feeding difficulties. Female carriers are often phenotypically normal or show a similar but milder phenotype, as in most cases the X-chromosome harbouring the duplication is subject to inactivation. Xq28, which includes MECP2 is the major locus for submicroscopic X-chromosome duplications, whereas duplications in Xq25 and Xq26 have been reported in only a few cases. Using genome-wide array platforms we identified overlapping interstitial Xq25q26 duplications ranging from 0.2 to 4.76 Mb in eight unrelated families with in total five affected males and seven affected females. All affected males shared a common phenotype with intrauterine- and postnatal growth retardation and feeding difficulties in childhood. Three had microcephaly and two out of five suffered from epilepsy. In addition, three males had a distinct facial appearance with congenital bilateral ptosis and large protruding ears and two of them showed a cleft palate. The affected females had various clinical symptoms similar to that of the males with congenital bilateral ptosis in three families as most remarkable feature. Comparison of the gene content of the individual duplications with the respective phenotypes suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects.

  9. Effect of pre-operative rectal diclofenac suppository on post-operative analgesic requirement in cleft palate repair: A randomised clinical trial

    Directory of Open Access Journals (Sweden)

    E S Adarsh

    2012-01-01

    Full Text Available Background: Opioid analgesics used for analgesia are associated with sedation, respiratory depression and post-operative nausea and vomiting. Non-steroidal anti-inflammatory drugs such as diclofenac are a safe and effective alternative with opioid-sparing effect. Objective: To evaluate the effectiveness of pre-operative rectal diclofenac suppository (1 mg/kg in cleft palate repair for post-operative analgesia and reduction in post-operative opioid requirements. Study Design: A randomized clinical trial. Methods: After obtaining approval from the institutional ethical committee, 60 children were allocated by a computer-generated randomisation into two groups of 30 each; group D (Diclofenac group and group C (Conventional group. Children in group D and group C were similar in all aspects except for the fact that group D children received 1 mg/kg diclofenac suppository after induction. Pain was evaluated using modification of the objective pain scale by Hannallah and colleagues for 6 h post-operatively by an anaesthesiology resident or nursing staff who was blinded to the group. If the pain score was more than 3, rescue analgesic I.V. fentanyl 0.5 μgm/kg was administered. The pain scores at different intervals, number of doses and quantity of rescue analgesic required were noted. Results: We observed that pre-operative rectal diclofenac provided effective analgesia in the immediate post-operative period, as evidenced by reduced pain scores and reduced opioid requirement (P=0.00002. There was no evidence of any increased perioperative bleeding in the diclofenac group. Conclusion: Pre-operative rectal diclofenac reduces opioid consumption and provides good post-operative analgesia.

  10. Analysis of Susceptibility Loci for Nonsyndromic Orofacial Clefting in a European Trio Sample

    NARCIS (Netherlands)

    Bohmer, A.C.; Mangold, E.; Tessmann, P.; Mossey, P.A.; Steegers-Theunissen, R.P.M.; Lindemans, J.; Bouwman-Both, M.; Rubini, M.; Franceschelli, P.; Aiello, V.; Peterlin, B.; Molloy, A.M.; Nothen, M.M.; Knapp, M.; Ludwig, K.U.

    2013-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P), the most common type of orofacial clefting, is one of the most frequent congenital defects. Based on epidemiological data, NSCL/P can be distinguished from nonsyndromic cleft palate only (NSCPO). Both phenotypes have a complex etiology an

  11. Descripción de un caso de labio leporino y paladar hendido en bubalus bubalis bubalis (búfalo), Sucre, Colombia - Description of a case of harelip and cleft palate in bubalus bubalis bubalis (buffalo), Sucre, Colombia.

    OpenAIRE

    Montes Vergara, Donicer; De La Ossa Velázquez, Jaime

    2012-01-01

    ResumenEl presente trabajo muestra el hall azgo de un caso de labio leporino y paladar hendido en una cría de Bubalus bubalis bubalis (Murrah x Murrah) en una la finca, dedicada a la explotación de esta especie de ganado ubicada en la depresión del Bajo Cauca y San Jorge del Municipio de San Benito Abad, departamento de Sucre, Colombia.SummaryThe present work report the discovery of a case of harelip and cleft palate in a newborn of Bubalus bubalis bubalis (Murrah x Murrah) on a farm dedicate...

  12. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome

    OpenAIRE

    Leandro Ucela Alves; Eliete Pardono; Otto, Paulo A.; Regina Célia Mingroni Netto

    2014-01-01

    Ectrodactyly – ectodermal dysplasia and cleft lip/palate (EEC) syndrome (OMIM 604292) is a rare disorder determined by mutations in the TP63 gene. Most cases of EEC syndrome are associated to mutations in the DNA binding domain (DBD) region of the p63 protein. Here we report on a three-generation Brazilian family with three individuals (mother, son and grandfather) affected by EEC syndrome, determined by a novel mutation c.1037C > G (p.Ala346Gly). The disorder in this family exhibits a broad ...

  13. 单侧完全性唇腭裂胎儿宫内手术修复的解剖学基础%Anatomic basis on fetal intrauterine surgical repair of unilateral complete cleft lip and palate

    Institute of Scientific and Technical Information of China (English)

    黄海龙; 陈丽娟; 钟卫娟; 邹锦慧; 梁恩来

    2012-01-01

    目的 为单侧性唇腭裂胎儿宫内手术修复提供解剖学基础.方法 制作和观察21~32周正常和单侧完全性唇腭裂胎儿头颈部血管铸型标本,比较他们唇腭部血供的来源及吻合情况. 结果 ①正常胎儿唇腭部的血供主要由上唇动脉、鼻翼下缘动脉和腭大动脉组成.两侧上唇动脉在中线附近吻合成上唇动脉弓,并在鼻中隔前下部形成浅深两层血管网,且上唇动脉鼻中隔支也与腭大动脉穿支相互吻合;②单侧完全性唇腭裂胎儿唇腭部血供由于患侧裂隙的阻隔,导致左右上唇动脉不能吻合成弓,患侧腭大动脉穿过骨残端与患侧鼻腔内的血管相吻合. 结论 单侧完全性唇腭裂胎儿唇腭部血管非常丰富,尤以上唇动脉和腭大动脉为血供主干.%Objective To provide anatomic basis for fetal intrauterine surgical repair of complete cleft lip and palate. Methods Vascular cast specimens of the head and neck from 21 ~32W normal fetus and unilateral complete cleft lip and palate fetus were carried out. Blood supply source and arterial anastomosis of lip and palate were observed and compared. Results ① For healthy fetus, blood supply of lip and palate mainly came from superior labial artery, nasal alar artery and greater palatine artery. The arterial arch formed by the anastomosis between the left and the right superior labial artery. The superficial and deep vascular networks were formed in nasal septum,and the nasal septum branch of superior labial artery anastomosed with the perforator branch of greater palatine artery. ② Due to the slit separation, The lip and palate vessels of unilateral complete cleft lip and palate fetus absent the anastomosis between the left and the right superior labial artery, however the greater palatine artery and nasal vessel anastomosed with each other through bone stump. Conclusions For fetus of cleft lip and palate, blood supply of the lip and palate was plentiful, especially

  14. Association of methylenetetrahydrofolate reductase A1298C polymorphisms with non-syndromic cleft lip with or without cleft palate%非综合征性唇腭裂与亚甲基四氢叶酸还原酶基因A1298C相关性的研究

    Institute of Scientific and Technical Information of China (English)

    胡颖; 侯伟; 陈尔军; 柳新华; 侯春林; 张新华

    2011-01-01

    目的 研究亚甲基四氢叶酸还原酶基因(methylenetetrahydrofolate reductase,MTHFR)A1298C多态性与中国华北人群非综合征性唇腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)的关系.方法 通过聚合酶链反应-限制性片段长度多态性,在158例NSCL/P患者和192名健康对照中,对MTHFR基因A1298C单核苷酸多态性(single nucleotide polymorphism,SNP)rs1801131进行检测.利用拟合优度卡方检验分析基因型分布频率是否符合Hardy-Weinberg平衡定律;应用Unphased软件分析等位基因频率与NSCL/P的相关性.结果 MTHFR基因A1298C多态性基因型频率分布符合Hardy-Weinberg平衡;等位基因和基因型频率在唇裂合并或不合并腭裂组和健康对照组之间差异无统计学意义;基因型分布单纯腭裂(AA 78%、AC+CC 22%)与健康对照组(AA 74%、AC+CC 26%)比较,差异有统计学意义(χ2=4.256,P=0.039),AC+CC基因型频率健康对照组(26%)高于单纯腭裂组(22%)(OR=0.8,95%CI=0.381~1.683).结论 MTHFR A1298C多态性位点可能与中国人群非综合征性单纯腭裂的发生有关.%Objective To investigate the association between a polymorphism of methylenetetrahydrofolate reductase with Non-syndromic cleft lip with or without cleft palate(NSCL/P)in Chinese population. Methods The polymerase chain reaction (PCR)-based restriction fragment length polymorphism(RFLP)technique was used to detect a single nucleotide polymorphism(SNP), rs1801131, at the methylenetetrahydrofolate reductase(MTHFR)gene in both 158 patients with NSCL/P and 192 healthy individuals. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was applied to perform the association analysis. Results The genotypic distribution of A1298C was not deviated from the Hardy-Weinberg equilibrium in both controls and patients. No association was found between cleft lip with or without palate(CL/P)and controls. There was

  15. Risk of Oral Clefts in Twins

    DEFF Research Database (Denmark)

    Grosen, Dorthe; Bille, Camilla; Petersen, Inge;

    2011-01-01

    BACKGROUND:: Small studies have indicated that twinning increases the risk of oral cleft. METHODS:: We used data from a Danish national population-based cohort study to investigate whether twinning was associated with isolated oral cleft, and to estimate the twin probandwise concordance rate...... and heritability. Twins (207 affected/130,710) and singletons (7766 affected/4,798,526) born from 1936 through 2004 in Denmark were ascertained by linkage among the Danish Facial Cleft Database, the Danish Twin Registry, and the Civil Registration System. We computed oral cleft prevalence and prevalence proportion...... ratio for twins versus singletons, stratified for 3 subphenotypes. Probandwise concordance rates and heritability for twins were estimated for 2 phenotypes-cleft lip with or without cleft palate (CL/P) and cleft palate (CP). RESULTS:: The prevalence of oral cleft was 15.8 per 10,000 twins and 16.6 per...

  16. Atendimento fonoaudiológico intensivo em pacientes operados de fissura labiopalatina: relato de casos Intensive speech therapy in patients operated for cleft lip and palate: case report

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    Maria do Rosário Ferreira Lima

    2007-09-01

    Full Text Available Devido à carência de fonoaudiólogos para atendimento ao paciente com fissura labiopalatina em várias regiões do Brasil, novos programas de atendimento devem ser desenvolvidos para esses indivíduos. A terapia intensiva de fala tem sido relatada na literatura como uma modalidade alternativa. Este trabalho relata a experiência com alguns casos de atendimento fonoaudiológico intensivo, e compara o desempenho na produção da fala de quatro pacientes operados de fissura palatina, antes e após a terapia fonoaudiológica intensiva. Foram atendidos, no período de férias escolares, três adultos e um adolescente que apresentavam distúrbios articulatórios compensatórios. O atendimento teve duração de três horas diárias para cada paciente, durante dez dias, divididos em terapia individual e em grupo. No início e fim do período de terapia, os pacientes foram avaliados por uma fonoaudióloga que não participou dos atendimentos. Também foi gravada em vídeo uma amostra de fala espontânea, contagem de 1 a 20 e repetição de uma lista de palavras e frases com fonemas oclusivos orais e fricativos. Todos os pacientes mostraram evolução satisfatória na terapia intensiva, com adequação dos fonemas trabalhados na fala dirigida, necessitando ainda de acompanhamento fonoterápico para sua automatização. A terapia intensiva mostrou ser uma alternativa eficaz e viável nesses casos, podendo também ser uma estratégia durante o início do tratamento fonoaudiológico convencional.Due to the lack of speech therapists at various regions of Brazil to assist patients with cleft lip and palate, new intervention programs must be developed for these individuals. Intensive speech therapy has been cited in literature as an alternative modality. This article relates the experience of four cleft lip patients, comparing their speech performances before and after the intensive intervention. The subjects, three adults and one adolescent with compensatory

  17. Crianças com fissura isolada de palato: desempenho nos testes de processamento auditivo Cleft palate children: performance in auditory processing tests

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    Mirela Boscariol

    2009-04-01

    Full Text Available Muitas crianças com transtorno de processamento auditivo têm uma prevalência alta de otite média, alteração na orelha média de grande ocorrência na população com fissura labiopalatina. OBJETIVO: Verificar o desempenho de crianças com fissura isolada de palato (FP em testes do processamento auditivo. Estudo prospectivo. MATERIAL E MÉTODO: Vinte crianças (7 a 11 anos com FP foram submetidas aos testes de localização sonora (LS, memória para sons verbais (MSSV e não-verbais em seqüência (MSSNV, Fusão Auditiva-Revisado (AFT-R, Teste Pediátrico de Inteligibilidade de Fala/Sentenças Sintéticas (PSI/SSI, Dissílabos alternados (SSW e Dicótico de dígitos (DD. O desempenho das crianças nos testes foi classificado em ruim e bom. RESULTADOS: Não houve diferença estatística entre os gêneros e orelhas. Os valores médios obtidos foram 2,16, 2,42, 4,37, 60,50ms, de 40,71 a 67,33%, 96,25 a 99,38%, 73,55 a 73,88% e 58,38 a 65,47%, respectivamente, para os testes MSSNV, MSSV, LS, AFT-R, PSI/SSI com mensagem competitiva ipsilateral (PSI/SSIMCI e contralateral (PSI/SSI/MCC, DD e SSW. CONCLUSÃO: Uma alta porcentagem de crianças demonstrou seus piores desempenhos nos testes AFT-R, DD, SSW e no teste PSI/SSIMCI. Os melhores desempenhos ocorreram nos testes de localização sonora, memória seqüencial para sons não verbais e verbais e para PSI/SSIMCC.Many children with auditory processing disorders have a high prevalence of otitis media, a middle ear alterations greatly prevalent in children with palatine and lip clefts. AIM: to check the performance of children with palate cleft alone (PC in auditory processing tests. Prospective study. MATERIALS AND METHODS: twenty children (7 to 11 years with CP were submitted to sound location tests (SL, memory for verbal sounds (MSSV and non verbal sounds in sequence (MSSNV, Revised auditory fusion (AFT-R, Pediatric test of speech intelligibility/synthetic sentences (PSI/SSI, alternate

  18. Orthodontic and Orthognathic Surgery Combined Therapy of Cleft Lip and Palate Malocclusion with Curative Effect Analysis%评价正畸-正颌外科联合治疗唇腭裂伴牙颌畸形的效果

    Institute of Scientific and Technical Information of China (English)

    曹澧峰

    2014-01-01

    Objective To explore and research joint orthodontics and orthognathic surgery for treatment of cleft lip and palate malocclusion.Methods 103 cases of cleft lip and palate in our hospital from 1999 October to 2008 5 months in patients with dentofacial deformity, in which 59 female patients, 44 male patients, al the patients are in the operation beforeorthodontic aligning close the gap, using standardized osteotomyadvancement in maxil ary operation, if the implementation of iliac crest bone graft and bone grafting with alveolar cleft patients. Results After the operation in patients with facial have made a very good improvement,occlusion and coordination have received good treatment. Conclusion The use of joint orthodontics and orthognathic surgery for treatment of cleft lip and palate with malocclusion has a very significant ef ect.%目的探索和研究正畸-正颌外科联合治疗唇腭裂伴牙颌畸形的效果。方法选取我院从1999年10月~2008年5月中的103例唇腭裂伴牙颌面畸形患者,在这其中女性患者59例,男性患者44例,所有患者都在手术之前将正畸治疗排齐牙列关闭间隙完成,利用标准化截骨前移实施在上颌骨手术中,如果有伴牙槽裂的患者实施髂骨取骨植骨术。结果在手术之后患者的脸部都取得了很不错的改善,咬合以及协调性都得到了不错的治疗。结论利用正畸-正颌外科联合治疗唇腭裂伴牙颌畸形具有很显著的效果。

  19. Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.

    Directory of Open Access Journals (Sweden)

    Tao Wu

    Full Text Available Nonsyndromic cleft palate (CP is one of the most common human birth defects and both genetic and environmental risk factors contribute to its etiology. We conducted a genome-wide association study (GWAS using 550 CP case-parent trios ascertained in an international consortium. Stratified analysis among trios with different ancestries was performed to test for GxE interactions with common maternal exposures using conditional logistic regression models. While no single nucleotide polymorphism (SNP achieved genome-wide significance when considered alone, markers in SLC2A9 and the neighboring WDR1 on chromosome 4p16.1 gave suggestive evidence of gene-environment interaction with environmental tobacco smoke (ETS among 259 Asian trios when the models included a term for GxE interaction. Multiple SNPs in these two genes were associated with increased risk of nonsyndromic CP if the mother was exposed to ETS during the peri-conceptual period (3 months prior to conception through the first trimester. When maternal ETS was considered, fifteen of 135 SNPs mapping to SLC2A9 and 9 of 59 SNPs in WDR1 gave P values approaching genome-wide significance (10(-6

  20. Pattern of disocclusion in patients with complete cleft lip and palate Padrão de desoclusão em indivíduos com fissura lábio-palatina completa

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    Daniella Andaluza Dias Matos

    2006-06-01

    Full Text Available OBJECTIVE: to analyze the pattern of disocclusion during excursive mandibular movements and presence or absence of occlusal interferences and occlusal pathologies (gingival recession and abfraction. METHOD: examination of 120 individuals divided into two groups, as follows: Group 1 - 90 patients with complete cleft lip and palate (study group, subdivided into 30 patients with complete left unilateral cleft lip and palate, 30 patients with complete right unilateral cleft lip and palate and 30 patients with complete bilateral cleft lip and palate; Group 2 - 30 individuals without clefts (control group. RESULTS: 58.8% of patients in Group 1 presented unilateral or bilateral canine guidance, 26.6% presented unilateral or bilateral group function and 54.4% presented lateral movements through the posterior teeth. Regarding protrusive movements, 80% presented anterior guidance and 20% presented posterior guidance. In Group 2, 69.6% of individuals presented unilateral or bilateral canine guidance, 43.2% presented unilateral or bilateral group function and only 13.3% presented lateral movements through the posterior teeth; 3.4% presented protrusion through the posterior teeth. CONCLUSIONS: there was no difference in the pattern of disocclusion between subgroups of patients with clefts. Group 2 presented predominance of bilateral group function, whereas Group 1 presented a higher prevalence of posterior guidance during lateral movements. Protrusion occurred primarily through anterior guidance in Group 2 and through the posterior teeth in Group 1. There was high prevalence of occlusal interferences at the molar area for both groups, yet with no correlation with occlusal pathologies (recession and abfraction.OBJETIVO: avaliar o padrão de desoclusão apresentado nos movimentos excursivos mandibulares e a presença ou não de interferências oclusais e patologias relacionadas à oclusão (recessão gengival e abfração. MÉTODO: exame de 120 indiv