WorldWideScience

Sample records for craniofacial fibrous dysplasia

  1. CT Imaging of Craniofacial Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Zerrin Unal Erzurumlu

    2015-01-01

    Full Text Available Fibrous dysplasia is a benign fibroosseous bone dysplasia that can involve single (monostotic or multiple (polyostotic bones. Monostotic form is more frequent in the jaws. It is termed as craniofacial fibrous dysplasia, when it involves, though rarely, adjacent craniofacial bones. A 16-year-old girl consulted for a painless swelling in the right posterior mandible for two years. Panoramic radiography revealed ground-glass ill-defined lesions in the three different regions of the maxilla and mandible. Axial CT scan (bone window showed multiple lesions involving skull base and facial bones. Despite lesions in the skull base, the patient had no abnormal neurological findings. The lesion was diagnosed as fibrous dysplasia based on radiological and histopathological examination. In this paper, CT findings and differential diagnosis of CFD are discussed. CT is a useful imaging technique for CFD cases.

  2. Craniofacial fibrous dysplasia - A review of current management techniques

    Directory of Open Access Journals (Sweden)

    Yadavalli Guruprasad

    2012-01-01

    Full Text Available Fibrous dysplasia is a pathologic condition of bone of unknown etiology with no apparent familial, hereditary or congenital basis. Lichtenstein first coined the term in 1938 and in 1942 he and Jaffe separated it from other fibro-osseous lesions. It is a bone tumor that, although benign, has the potential to cause significant cosmetic and functional disturbance, particularly in the craniofacial skeleton. Its management poses significant challenges to the surgeon. Craniofacial fibrous dysplasia is 1 of 3 types of fibrous dysplasia that can affect the bones of the craniofacial complex, including the mandible and maxilla. Fibrous dysplasia is a skeletal developmental disorder of the bone-forming mesenchyme that manifests as a defect in osteoblastic differentiation and maturation. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Fibrous dysplasia represents about 2, 5% of all bone tumors and over 7% of all benign tumours. Over the years, we have gained a better understanding of its etiology, clinical behavior, and both surgical and non-surgical treatments.

  3. Use of Zoledronic Acid in Paediatric Craniofacial Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Chiara Di Pede

    2016-01-01

    Full Text Available We describe a case of a paediatric patient affected by mandibular fibrous dysplasia (FD with severe and chronic pain who was successfully treated with zoledronic acid (ZOL: a third-generation bisphosphonate. Further research is needed to assess its safety and efficacy as a treatment option for FD in the paediatric population.

  4. Craniofacial fibrous dysplasia: Report of a case using computed tomographic scan diagnosis

    Directory of Open Access Journals (Sweden)

    Nikhil Diwan

    2013-01-01

    Full Text Available Fibro-osseous lesions are benign mesenchymal tumors in which mineralized tissue, blood vessels, and giant cells, in varying proportions, replace normal bone. Although this group of lesions includes reactive lesions, harmatomas, and neoplasms, they cannot be distinguished only on the basis of the histopathology which can only confirm their common fibro-osseous nature. Definitive diagnosis requires thorough radiological evaluation. Computed tomographic images of craniofacial fibrous dysplasia on bone windows may be helpful and allow precise pre-operative diagnosis and surgical planning.

  5. Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion.

    Science.gov (United States)

    Ogul, Hayri; Keskin, Emine

    2018-05-01

    Fibrous dysplasia is an unusual benign bone tumor. It is divided into 3 groups as monostotic, polyostotic, and craniofacial form. The authors reported an unusual patient with fibrous dysplasia with an aggressive radiologic appearance.

  6. Computed tomographic features of polyostotic craniofacial fibrous dysplasia with special emphasis on cyst-like osteolytic appearance

    International Nuclear Information System (INIS)

    Kise, Yoshitaka; Ariji, Yoshiko; Gotoh, Masakazu; Izumi, Masahiro; Naitoh, Munetaka; Ariji, Eiichiro

    2011-01-01

    The objective of this study was to clarify CT image features of the craniofacial bones in patients with polyostotic fibrous dysplasia (FD). Five patients in our hospital and 32 patients in 27 previously reported studies were selected for this study. CT image features were evaluated by 3 maxillofacial radiologists and classified into 3 patterns (sclerotic, mixed, and cyst-like lytic patterns). The bones affected by FD were the sphenoid bone, maxilla, zygoma, temporal bone, mandible, and so on. There was a significant difference in the distribution of CT image patterns by the type of bone (p=0.0012). A lytic pattern was frequently found in the mandible, sphenoid bone, frontal bone, and maxilla. The clinical data significantly affected by the distribution of CT image patterns were the periods of symptoms and the anamnesis about the previous operation: when the symptoms were persistent, the ratio of the lytic pattern was high. There was a significant difference in pattern distribution in the frontal bone and maxilla in the surgical anamnesis. No significant difference was seen by age and sex. The cyst-like lytic area was shown to be a mucocele or aneurysmal bone cyst in the frontal and sphenoid bones, whereas an inflammatory change in the jaw bones. There was a significant difference in the distribution of CT image patterns by the types of craniofacial bones affected by polyostotic FD. (author)

  7. Post-traumatic cerebrospinal fluid rhinorrhea associated with craniofacial fibrous dysplasia:Case report and literature review

    Institute of Scientific and Technical Information of China (English)

    Peng Li; Qiangyi Zhou; Zhijun Yang; Zhenmin Wang; Shiwei Li; Xingchao Wang; Bo Wang; Fu Zhao; Pinan Liu

    2016-01-01

    Objective: Fibrous dysplasia(FD) is an unusual developmental abnormality of the skeleton. When facial and cranial bones are involved in FD, it is termed craniofacial fibrous dysplasia(CFD). Although several reports have reported that CFD has a tendency for spontaneous cerebrospinal fluid(CSF) leakage, there have been no related English-language case reports. We present the first case of post-traumatic CSF rhinorrhea associated with CFD. Methods: A 30-year-old man presented with CSF rhinorrhea after a mild head trauma. Computed tomography cisternogram located a defect in the posterior wall of the right frontal sinus. Imaging examination also showed the evident expansion of multiple skull bones, spinal scoliosis, and multiple local enlargements of ribs.Without café-au-lait cutaneous spots and endocrine abnormalities, polyostotic FD was diagnosed instead of Mc Cune-Albright syndrome(MAS). The patient underwent craniotomy fistula repair surgery. The excised bone was contoured to be thinner to increase the cranial cavity. The patient recovered well and CSF leakage did not recur.But during a nineteen-month follow up, sight in the patient’s left eye was decreased.MAS was suspected. Unfortunately the patient refused to take the proposed decompression surgery and laboratory tests of serum hormones. Conclusions: CFD, if the wall of the paranasal sinus is involved and the cranial cavity is decreased, may increase the risk of CSF rhinorrhea after head trauma.Expectant management is recommended in asymptomatic CFD patients even in the presence of optic nerve compression. As MAS may cause more problems, it should be precluded before polyostotic FD is diagnosed.

  8. Fibrous dysplasia and cherubism

    Directory of Open Access Journals (Sweden)

    Surajit Bhattacharya

    2015-01-01

    Full Text Available Fibrous dysplasia (FD is a non-malignant fibro-osseous bony lesion in which the involved bone/bones gradually get converted into expanding cystic and fibrous tissue. The underlying defect in FD is post-natal mutation of GNAS1 gene, which leads to the proliferation and activation of undifferentiated mesenchymal cells arresting the bone development in woven phase and ultimately converting them into fibro-osseous cystic tissue. Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation. The disease may present in two distinct forms, a less severe and limited monostotic form, and a more aggressive and more widespread polyostotic form. Polyostotic form may be associated with various endocrine abnormalities, which require active management apart from the management of FD. Management of FD is not free from controversies. While total surgical excision of the involved area and reconstruction using newer micro-vascular technique is the only definitive treatment available from the curative point of view, but this can be only offered to monostotic and very few polyostotic lesions. In polyostotic varieties on many occasions these radical surgeries are very deforming in these slow growing lesions and so their indication is highly debated. The treatment of cranio-facial fibrous dysplasia should be highly individualized, depending on the fact that the clinical behavior of lesion is variable at various ages and in individual patients. A more conservative approach in the form of aesthetic recontouring of deformed bone, orthodontic occlusal correction, and watchful expectancy may be the more accepted form of treatment in young patients. Newer generation real-time imaging guidance during recontouring surgery adds to accuracy and safety of these procedures. Regular clinical and radiological follow up is required to watch for quiescence, regression or reactivation of the disease process

  9. Fibrous dysplasia of bone

    International Nuclear Information System (INIS)

    Kim, Kyung Soo; Lee, Sang Wook; Cho, Young Jun; Kim, Young Sook

    1983-01-01

    Fibrous dysplasia of bone is a skeletal development anomaly of unknown etiology characterized by single or multiple areas of fibrous tissue replacement of medullary cavity of one or more bones. The disease may be localized to single bone (monostotic form) or may affect multiple bones (polyostotic form). Eighteen cases of fibrous dysplasia diagnosed by roentgenlogic or histologic assessment at Chosun University Hospital, Chosun University Hospital and Kwangju Christian Hospital during recent ten tears were analyzed clinically and radiologically. The results were as follows: 1. 16 case of them had monostotic involvement, and 2 cases showed polyostotic disease, but none of our series presented Albright's syndrome. 2. The male to female ratio in this series was 10 : 8, but then 2 polyostotic forms of them were females. In age distribution, peak incidence at the time of diagnosis was in the age group of second decade (10 cases). 3. Maxilla (6 cases) and femur (4 case) were frequently involved sites in patients with monostotic lesion, whereas polyostotic lesions diffusely affected skull, pelvis, ribs and limb bones. 4. The clinical symptoms according to the extent and site of disease were very variable, which were localized painless or painful swelling, nasal obstruction, deformity of face or extremity and incidentally during routine roentgen study. 5. The chemical abnormality of blood serum was moderate degree of elevated serum alkaline phosphatase in only one patients with monostotic lesion. 6. The main radiologic findings of fibrous dysplasia were relatively well circumscribed single or multiloculated cystilike appearance, bone expansion, cortical thinning and/or erosion, bony deformity and pathologic fracture, but especially in maxilla, dense homogenous area with expanding lesion was observed in our series

  10. Bone scintigraphy in polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Wadhwa, S.S.; Mansberg, R.; Fernandes, V.B. [Illawarra Regional Hospital, Wollongong, NSW, (Australia)

    1998-03-01

    Fibrous dysplasia is a benign skeletal disorder of unknown aetiology. Fibrous dysplasia characteristically involves the fibrous replacement of portions of the medullary cavities of a single bone (monostotic) or multiple bones (polyostotic). Bones typically involved include the femurs, tibiae, ribs and maxillae. The polyostotic form may be accompanied by skin pigmentation and endocrine abnormalities (McCune Allbright Syndrome). Radiological findings in fibrous dysplasia are variable, ranging from completely radiolucent to radio-opaque lesions, depending on the amount of fibrous or osseous tissue deposited in the medulla. The most common radiographic finding is that of a ground glass-like semi-opaque lesion. Case reports on scintigraphic manifestation of fibrous dysplasia are scanty. We present radiological and scintigraphic findings of polyostotic fibrous dysplasia in a young male. (authors). 3 refs., 1 fig.

  11. A case report of the fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    You, Dong Soo [Department of Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1975-11-15

    The author observed a rare case of fibrous dysplasia in 12 year old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry of 3 years' duration in right maxillofacial region. The serial radiograms has been taken, and the nature of the lesion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtained the results as follows: 1. Fibrous dysplasia occurred at 3 years of age in this case. 2. On familial tendency, traumatic history and endocrine disturbances were not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching right zygomatic bone.

  12. A case report of the fibrous dysplasia

    International Nuclear Information System (INIS)

    You, Dong Soo

    1975-01-01

    The author observed a rare case of fibrous dysplasia in 12 year old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry of 3 years' duration in right maxillofacial region. The serial radiograms has been taken, and the nature of the lesion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtained the results as follows: 1. Fibrous dysplasia occurred at 3 years of age in this case. 2. On familial tendency, traumatic history and endocrine disturbances were not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching right zygomatic bone.

  13. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

    Energy Technology Data Exchange (ETDEWEB)

    Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Kangnung National University, Kangnung (Korea, Republic of)

    2000-06-15

    Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.

  14. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

    International Nuclear Information System (INIS)

    Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo

    2000-01-01

    Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.

  15. Recurring fibrous dysplasia of anthro maxillary with cranial base invasion

    Directory of Open Access Journals (Sweden)

    Sousa, Kátia Maria Marabuco de

    2009-09-01

    Full Text Available Introduction: Fibrous dysplasia is an osseous lesion with an unknown etiology. It is characterized by the osseous maturation insufficiency. It may affect any bone, but the affection of craniofacial bones is the most critical for otorhinolaryngology. Maxilla is the most affected facial bone and the orbitary invasion is an uncommon event. The symptoms are unspecific and for its low suspicion and uncommonness, the diagnosis is generally late. The monostotic form presents a slow growth and asymptomatic course and needs to be followed up. The polyostotic type has a progressive behavior and is associated to recurrence and complications. Objective: To present two cases of patients with fibrous dysplasia diagnosis and describe the clinical presentation, radiological findings and the treatment of this pathology. Cases Report: Two cases of fibrous dysplasia are reported, which initially presented unspecific symptomatology, but with characteristic radiologic signs. They were submitted to surgical treatment for resection of the lesions and evolved with frequent recurrences with extensive affection of the facial sinuses, one patient had cranial base invasion and frontal craniotomy was needed for tumoral excision. Final Comments: Fibrous dysplasia is an uncommon osteopathy. The tomography is the choice method for characterization of the tumoral expansion, and helps in the surgical planning. The surgical strategy is indicated for symptomatic lesions, functions alterations or anatomic disorders. This article describes two uncommon manifestations of recurrent fibrous dysplasia with an extensive affection of anthro maxillary, ethmoidal and sphenoid sinuses, in addition to orbitary and cranial base invasion.

  16. Fibrous dysplasia of the femoral neck

    International Nuclear Information System (INIS)

    Savage, P.E.; Stoker, D.J.

    1984-01-01

    Fibrous dysplasia of the femur is usually observed in the intertrochanteric region. It is rarely confined to the femoral neck. We present four cases illustrating the radiographic appearance and spectrum of this condition which all showed the relatively lucent variety of fibrous dysplasia with varying degrees of expansion and surrounding sclerosis. The natural history of this condition is discussed. (orig.)

  17. Craniofacial features of cleidocranial dysplasia

    Directory of Open Access Journals (Sweden)

    Chin-Yun Pan

    2017-12-01

    Full Text Available Cleidocranial dysplasia (CCD is an autosomal-dominant malformation syndrome affecting bones and teeth. The most common skeletal and dental abnormalities in affected individuals are hypoplastic/aplastic clavicles, open fontanelles, short stature, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth. Treatment of CCD requires a multidisciplinary approach that may include dental corrections, orthognathic surgery and cranioplasty along with management of any complications of CCD. Early diagnosis of this condition enables application of the treatment strategy that provides the best quality of life to such patients. Notably, Runx2 gene mutations have been identified in CCD patients. Therefore, further elucidation of the molecular mechanism of supernumerary teeth formation related to Runx2 mutations may improve understanding of dental development in CCD. The insights into CCD pathogenesis may assist in the development of new treatments for CCD. Keywords: cleidocranial dysplasia, mutation, Runx2, supernumerary teeth

  18. Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma

    International Nuclear Information System (INIS)

    Kaushik, Shaifali; Smoker, Wendy R.K.; Frable, William J.

    2002-01-01

    A case of malignant transformation of polyostotic fibrous dysplasia into maxillary chondroblastic osteosarcoma is presented. The clinical, radiographic, CT, MR imaging features and pathological findings of polyostotic fibrous dysplasia and its malignant transformation are described. Malignant transformation of fibrous dysplasia is rare and has not previously been described in the English literature in this location in McCune-Albright syndrome and in the absence of radiation treatment. (orig.)

  19. Bone markers in craniofacial bone deformations and dysplasias

    Directory of Open Access Journals (Sweden)

    Monika Seifert

    2015-10-01

    Full Text Available Various forms of bony deformations and dysplasias are often present in the facial skeleton. Bone defects can be either localized or general. Quite often they are not only present in the skull but also can be found in other parts of the skeleton. In many cases the presence and levels of specific bone markers should be measured in order to fully describe their activity and presence in the skeleton. Fibrous dysplasia (FD is the most common one in the facial skeleton; however, other bone deformations regarding bone growth and activity can also be present. Every clinician should be aware of all common, rare and uncommon bony diseases and conditions such as cherubism, Paget’s disease, osteogenesis imperfecta and others related to genetic conditions. We present standard (calcium, parathyroid hormone, calcitonin, alkaline phosphatase, vitamin D and specialized bone markers (pyridinium, deoxypyridinium, hydroxyproline, RANKL/RANK/OPG pathway, growth hormone, insulin-like growth hormone-1 that can be used to evaluate, measure or describe the processes occurring in craniofacial bones.

  20. Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Kate A

    2009-01-01

    Full Text Available We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor. The association between the two and other tumors described in literature related to Marfan syndrome is discussed.

  1. Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma

    Directory of Open Access Journals (Sweden)

    Sreelakshmi N. Nair

    2016-01-01

    Full Text Available Fibrous dysplasia (FD is a condition characterized by excessive proliferation of bone forming mesenchymal cells which can affect one bone (monostotic type or multiple bones (polyostotic type. It is predominantly noticed in adolescents and young adults. Fibrous dysplasia affecting the jaws is an uncommon condition. The most commonly affected facial bone is the maxilla, with facial asymmetry being the chief complaint. The lesion in many instances is confused with ossifying fibroma (OF. Diagnosis of these two lesions has to be done based on clinical, radiographic, and microscopic findings. Here, we present a case of fibrous dysplasia of maxilla in a nine-year-old boy mimicking juvenile ossifying fibroma.

  2. Malignant fibrous histiocytoma following radiation therapy of fibrous dysplasia: case report

    Energy Technology Data Exchange (ETDEWEB)

    Amin, R.; Ling, R. [Royal Devon and Exeter Hospital (United Kingdom)

    1995-10-01

    Malignant fibrous histiocytoma commonly occurs spontaneously. In some cases it follows previous therapeutic or incidental irradiation, or miscellaneous pre-existing osseous conditions. Recently, it has been associated with total hip arthroplasty. We report a case of malignant fibrous histocytoma following radiation therapy of fibrous dysplasia and review literature. (author).

  3. Ehlers-Danlos syndrome with monostotic fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Rao A

    1979-01-01

    Full Text Available An unusual case of Ehlers-Danlos syndrome with monostotic fibrous dysplasia of the humorus is presented. The other orthopae-dic manifestations, its complications and associated features are re-viewed and summarised.

  4. Chondrosarcoma occurring in a patient with polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    De Smet, A.A.; Travers, H.; Neff, J.R.

    1981-12-01

    A 36-year-old white man with polyostotic fibrous dysplasia was found to have a high-grade chondrosarcoma arising from the left ilium. Although a left hemipelvectomy was performed, the patient subsequently developed sacral and pulmonary metastases and succumbed to his disease. This patient represents the first documented example of an unequivocally high-grade chondrosarcoma arising in an area of fibrous dysplasia without prior irradiation.

  5. Craniofacial and temporal bone CT findings in cleidocranial dysplasia

    International Nuclear Information System (INIS)

    Gonzalez, Guido E.; Caruso, Paul A.; Curtin, Hugh D.; Small, Juan E.; Jyung, Robert W.; Troulis, Maria J.

    2008-01-01

    Cleidocranial dysplasia (CCD) is a multistructural polyostotic genetic disorder that results from mutation of the CBFA1 gene. Hearing loss is a frequent finding in CCD. We describe the CT craniofacial findings in CCD and provide a comprehensive discussion of the CT temporal bone findings in these patients. (orig.)

  6. CT features of fibrous dysplasia of the temporal bone

    International Nuclear Information System (INIS)

    Charrada-Ben Farhat, L.; Bourkhis, S.; Ben Yaacoub, I.; Dali, N.; Askri, A.; Hendaoui, L.

    2006-01-01

    Fibrous dysplasia is characterized by a progressive replacement of normal bone elements by fibrous tissue. The temporal bone is rarely involved. In this location, complications such as facial deformity, conductive hearing loss and facial peripheral neural involvement can occur. Positive diagnosis can be established with computerized tomography which also enables assessment of extension and detection of complications. We report a case of a 27-year-old man with extensive fibrous dysplasia of the right temporal bone presenting with conductive hearing loss secondary to progressive stenosis of the external auditory canal. Computerized tomography of the temporal region was performed. (authors)

  7. Radiological analysis of polyostotic fibrous dysplasia in skeletal system

    International Nuclear Information System (INIS)

    Shin, Ma Rie; Kim, Jin Sik; Kim, Han Suk; Park, Soo Soung

    1984-01-01

    Over a period of recent 3 years, the 5 cases of polyostotic fibrous dysplasia were proven histologically at National Medical Center, and they were evaluated and analyzed radiologically and clinically. The results were as follows: 1. The age of 5 patients ranged from 12 to 21. 2. In general, clinical symptoms of these patients were pain of affected sites and swelling , fracture, walking disturbance of lower extremities. 3. The order of frequent site of polyostotic fibrous dysplasia was skull (4 cases), femur (3 cases), maxilla (2 case), humerus, tibia, rib, radius, metacarpal bone and phalanx. 4. The characteristic radiological findings of polyostotic fibrous dysplasia were multicystic lesions with ground glass appearance, osteosclerosis, cortical thinning and pathologic fracture and deformity of long bones. Particularly, in the extremities, multicystic radiolucencies, groud glass appearance, shepherd's crook and coxa vara deformities were noticed, and in the skull and maxilla, sclerotic changes were principally demonstrated.

  8. McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism - case report.

    Science.gov (United States)

    Raus, Iulian; Coroiu, Roxana Elena

    2016-01-01

    McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level. The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune - Albright syndrome.

  9. Fibrous dysplasia as a rare cause of nasolacrimal duct obstruction

    Directory of Open Access Journals (Sweden)

    Bahtiyar Polat

    2015-09-01

    Full Text Available Fibrous dysplasia of the paranasal sinuses is mostly asymptomatic, but sometimes may cause signs and symptoms de- pending on its location. We report two cases of maxillary fibrous dysplasia obstructing the lacrimal drainage system as a reason of chronic dacryocystitis, and reviewed the related literature. The first case underwent an endonasal endoscopic approach combined with external dacryocystorhinostomy. He had a patent lacrimal system at one-year follow-up. The le- sion was completely removed via an endonasal endoscopic approach in the second case, wherein the patient was asymp- tomatic of the six-month follow-up period. [Arch Clin Exp Surg 2015; 4(3.000: 172-175

  10. Fibrous dysplasia of the jaws associated with secondary hyperparathyroidism: a case report

    International Nuclear Information System (INIS)

    Whi, Jung Hyun; Kim, Young Joo; Chun, Kyung Ah; Kim, Ki Tae; Chang, Eun Deok; Kim, Young Ok; Lee, Won

    2007-01-01

    There have been few reports on fibrous dyplasia associated with secondary hyperparathyroidism. We report a case of a hemodialysis patient with secondary hyperparathyroidism concomitant with fibrous dysplasia of the jaws causing an abnormal deformity

  11. Dental Perspectives in Fibrous Dysplasia and McCune-Albright Syndrome

    Science.gov (United States)

    Akintoye, Sunday O.; Boyce, Alison M.; Collins, Michael T.

    2013-01-01

    McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by the triad of polyostotic fibrous dysplasia (PFD), endocrine disorders and café-au-lait skin pigmentation. Ninety percent of MAS patients have FD lesions in the craniofacial area, resulting in significant orofacial deformity, dental disorders, bone pain and compromised oral health. Maxillo-mandibular FD is also associated with dental developmental disorders, malocclusion, and high caries index. There is limited data on the outcomes of dental treatments in maxillo-mandibular FD/MAS patients, because clinicians and researchers have limited access to patients, and there are concerns that dental surgery may activate quiescent jaw FD lesions to grow aggressively. This report highlights current perspectives on dental management issues associated with maxillo-mandibular FD within the context of MAS. PMID:23953425

  12. Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud syndrome

    International Nuclear Information System (INIS)

    Samper Wamba, Jose Daniel; Fernandez Bermudez, Maria Jose; Dominguez, Teresa Lorenzo; Pascua, Luis Ramos

    2015-01-01

    The authors report a new case of Mazabraud syndrome in a 69-year-old woman complaining of pain in her right thigh. Plain radiographs demonstrated radiological findings consistent with polyostotic fibrous dysplasia of the right femur and tibia. Magnetic resonance imaging (MRI) study showed soft tissue tumors located in the vastus intermedius muscle with typical signal features of intramuscular myxomas. Biopsy was not performed because of its benign nature. Symptomatic treatment was prescribed and all the lesions remained 1 year after the diagnosis

  13. The clinical research of bone scan in patients with fibrous dysplasia of bone

    International Nuclear Information System (INIS)

    Yuan Zhibin; Yu Jianfang; Luo Quanyong; Lu Hankui; Zhu Jifang; Zhu Ruisen

    2002-01-01

    Objective: To study the characteristics of fibrous dysplasia of bone in bone imaging and evaluate the diagnostic value of radionuclide bone scan in fibrous dysplasia of bone. Methods: All 42 cases of fibrous dysplasia of bone patients had radionuclide bone scan performed and compared with other imaging modalities. A retrospective study method was used to analyze the imaging results. Results: Although fibrous dysplasia of bone showed uptake of 99m Tc-MDP in the images, its appearance characteristic was different from those metastatic bone tumors and other bone diseases. Combining with X rays and other imaging modalities can improve the diagnostic accuracy of this disease. Conclusion: Radionuclide bone scan has got certain value in the diagnosis of fibrous dysplasia of bone. Combining with other imaging modality can make up its disadvantage of low specificity

  14. Fibrous dysplasia with cartilaginous differentiation (''fibrocartilaginous dysplasia''): a review, with an illustrative case followed for 18 years

    International Nuclear Information System (INIS)

    Kyriakos, Michael; McDonald, Douglas J.; Sundaram, Murali

    2004-01-01

    A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma. (orig.)

  15. Intramuscular myxoma and fibrous dysplasia of bone - Mazabraud's syndrome

    International Nuclear Information System (INIS)

    Court-Payen, M.; Ingemann Jensen, L.; Bjerregaard, B.; Schwarz Lausten, G.; Skjoldbye, B.

    1997-01-01

    We present a case of Mazabroud's syndrome, a rare benign disease, with multiple intramuscular myxomas of the thoracic wall associated with fibrous dysplasia of bone. CT, MR imaging and ultrasonography (US) of the thorax showed 2 well circumscribed homogeneous intramuscular tumors. A US-guided needle biopsy with a large-core needle (2.0 mm) and a fine needle (0.8 mm) showed that the tumors were intramuscular myxomas with no sign of malignancy. 99m Tc bone scintigraphy showed a markedly increased uptake in the right lower skull, and multiple smaller foci. CT of the skull revealed a right-sided unilateral bone thickening of the orbit and the ethomoidal cells, and right-sided exophthalmia. This case history suggests that patients with multiple intramuscular myxomas should be preoperatively examined for osseous lesions. A postoperative follow-up should also be performed to detect other soft-tissue myxomas not as yet clinically detectable, or rare osseous complications. (orig.)

  16. Radiographic Differential Diagnosis Between The Fibrous Dysplasia And The Ossifying Fibroma

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Karp Shik [Dept. of Dental Radiology, College of Dentistry, Kyungpook National University, Daegu (Korea, Republic of)

    1999-02-15

    The author observed and compared the radiographic features of 49 cases of the fibrous dysplasia and 14 cases of the ossifying fibroma in the osteoblastic or mature stage radiologically and histopathologically. The obtained results were as follows: 1. Fibrous dysplasia occurred most frequently in the 2nd decade, but ossifying fibroma in the 3rd and 4th decades, and both lesions occurred with slight predilection in females. 2. In most cases, chief complaints were painless facial swelling. And 61.1% of fibrous dysplasia occurred in the maxilla, 92.9% of ossifying fibroma in the mandible, and most of these lesions occurred in the premolar-molar region. 3. In the mandibular lesions, ossifying fibroma was shown more oval and round shape, but fibrous dysplasia was shown fusiform shape. 4. Fibrous dysplasia was shown homogeneously distributed, complete radiopaque shadow at 63%, and ossifying fibroma was shown concentric, mixed appearance of radiolucent and radiopaque shadow at 92.9%. 5. Fibrous dysplasia was entirely shown poorly outlined and blended to normal surrounding bone, but ossifying fibroma was shown well-defined border. 6. Cortical thinning and expansion were observed in these lesions, but degree of cortical expansion was more severe in ossifying fibroma than fibrous dysplasia. 7. Loss of lamina dura, tooth displacement, and displacement of mandibular canal were observed in both lesions, but root resorption was observed in ossifying fibroma only.

  17. Bilateral fibrous dysplasia of the mandible in a 7-year-old male patient-A rare case

    Directory of Open Access Journals (Sweden)

    Chandar V

    2010-06-01

    Full Text Available Fibrous dysplasia is a disturbance of bone metabolism that is classified as a benign fibro-osseous lesion. Fibrous connective tissue, containing abnormal bone, replaces normal bone. The etiology of fibrous dysplasia is unknown. The radiographic appearance of the irregularly shaped trabeculae aids in the differential diagnosis. Occurring most commonly in the second decade of life, the lesions of fibrous dysplasia can be surgically recontoured for esthetic or functional purposes once they become dormant. Here, we report a case of bilateral fibrous dysplasia in a 7 year old male patient and its diagnostic work-up.

  18. Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

    Science.gov (United States)

    Goodwin, Alice F; Larson, Jacinda R; Jones, Kyle B; Liberton, Denise K; Landan, Maya; Wang, Zhifeng; Boekelheide, Anne; Langham, Margaret; Mushegyan, Vagan; Oberoi, Snehlata; Brao, Rosalie; Wen, Timothy; Johnson, Ramsey; Huttner, Kenneth; Grange, Dorothy K; Spritz, Richard A; Hallgrímsson, Benedikt; Jheon, Andrew H; Klein, Ophir D

    2014-09-01

    Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ectodysplasin (EDA1), EDA receptor (EDAR), or EDAR-associated death domain (EDARADD). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three-dimensional (3D) technologies has not been reported. In this study, we characterized craniofacial morphology in subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) by use of 3D imaging and geometric morphometrics (GM), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies. We found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. Our findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development.

  19. Polyostotic Fibrous Dysplasia With and Without McCune–Albright Syndrome—Clinical Features in a Nordic Pediatric Cohort

    Directory of Open Access Journals (Sweden)

    Pauliina Utriainen

    2018-03-01

    Full Text Available ObjectiveFibrous dysplasia (FD presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune–Albright syndrome (MAS refers to FD combined with skin (café-au-lait and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort.Patients and designWe retrospectively reviewed a cohort of pediatric patients (n = 16 with polyostotic FD with or without MAS diagnosed and followed in two Nordic Pediatric tertiary clinics between 1996 and 2017.ResultsHalf of the 16 patients with polyostotic FD presented with MAS. All patients with MAS (n = 8 had café-au-lait spots, and either gonadotropin-independent precocious puberty (PP (girls; n = 5 or abnormal testicle structure (boys, n = 3. None manifested hyperthyroidism or growth hormone excess. Mild hypophosphatemia was common (11/16, but none had signs of hypophosphatemic rickets. Craniofacial bone involvement was found in 12 patients (75%; in 5 of these, skeletal lesions were limited to craniofacial area. One child with craniofacial disease had lost vision due to optic nerve damage. Eleven (69% patients had sustained a fracture at FD lesion, over half of them requiring surgical fixation of the fracture, most commonly in the proximal femur. The first symptoms leading to FD/MAS diagnosis included skull/facial asymmetry (n = 4, PP (n = 3, abnormal gait (n = 3, pathologic fracture (n = 3, wide-spread café-au-lait spots (n = 1, headache (n = 1, and vision loss (n = 1.ConclusionPolyostotic FD and MAS remain diagnostic and therapeutic challenges because of the broad clinical spectrum. Recurrent fractures, pain, and even vision loss may impair the quality of life in children with FD.

  20. Fibrous Dysplasia of the Temporal Bone with External Auditory Canal Stenosis and Secondary Cholesteatoma.

    Science.gov (United States)

    Liu, Yu-Hsi; Chang, Kuo-Ping

    2016-04-01

    Fibrous dysplasia is a slowly progressive benign fibro-osseous disease, rarely occurring in temporal bones. In these cases, most bony lesions developed from the bony part of the external auditory canals, causing otalgia, hearing impairment, otorrhea, and ear hygiene blockade and probably leading to secondary cholesteatoma. We presented the medical history of a 24-year-old woman with temporal monostotic fibrous dysplasia with secondary cholesteatoma. The initial presentation was unilateral conductive hearing loss. A hard external canal tumor contributing to canal stenosis and a near-absent tympanic membrane were found. Canaloplasty and type I tympanoplasty were performed, but the symptoms recurred after 5 years. She received canal wall down tympanomastoidectomy with ossciculoplasty at the second time, and secondary cholesteatoma in the middle ear was diagnosed. Fifteen years later, left otorrhea recurred again and transcanal endoscopic surgery was performed for middle ear clearance. Currently, revision surgeries provide a stable auditory condition, but her monostotic temporal fibrous dysplasia is still in place.

  1. Fibrous dysplasia: rapid malignant transformation into osteogenic sarcoma - A rare occurance

    Directory of Open Access Journals (Sweden)

    S Gon

    2012-09-01

    Full Text Available Malignant transformation of fibrous dysplasia is rare, occurring in less than 1% of cases with a mean lag period of 13.5 years. We report a case of Osteogenic Sarcoma with chondroid differentiation in a pre-existing Fibrous Dysplasia occurring within one year of surgical resection and without any history of exposure to radiation. To the best of our knowledge and extensive search of literature, malignant transformation of Fibrous Dysplasia in such a short period of time, and without history of radiation exposure has never been reported from India.Journal of Pathology of Nepal (2012 Vol. 2, 335-337DOI: http://dx.doi.org/10.3126/jpn.v2i4.6891

  2. Fibrous dysplasia with cartilaginous differentiation (''fibrocartilaginous dysplasia''): a review, with an illustrative case followed for 18 years

    Energy Technology Data Exchange (ETDEWEB)

    Kyriakos, Michael [Division of Surgical Pathology, Washington University School of Medicine, St. Louis, Missouri (United States); Department of Pathology, Washington University School of Medicine, 660 S. Euclid Avenue, Campus Box 8118, MO 63110, St. Louis (United States); McDonald, Douglas J. [Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri (United States); Sundaram, Murali [Department of Radiology, The Mayo Clinic, Rochester, Minnesota (United States)

    2004-01-01

    A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma. (orig.)

  3. Shepherd's Crook Deformity of Polyostotic Fibrous Dysplasia Treated with Corrective Osteotomy and Dynamic Hip Screw

    Directory of Open Access Journals (Sweden)

    Wei-Jen Chen

    2005-07-01

    Full Text Available Fibrous dysplasia, a condition in which the skeleton fails to develop normally, is characterized by fibroblastic stroma and immature bone. Bowing of the long bones occurs frequently in the polyostotic form, and stress fractures often result. Shepherd's crook deformity is a characteristic feature of fibrous dysplasia. The goal of its treatment is to obtain normal walking ability and relieve pain due to pathologic fracture secondary to the deformity; however, correction of the deformity is a surgical challenge. We present 2 cases of shepherd's crook deformity treated with corrective osteotomy and a dynamic hip screw. Both cases showed good bone healing and no recurrent deformity. The gross deformities were corrected, and both patients were pain-free after operation.

  4. Unexpected finding of elevated glucose uptake in fibrous dysplasia mimicking malignancy: contradicting metabolism and morphology in combined PET/CT

    Energy Technology Data Exchange (ETDEWEB)

    Stegger, Lars; Weckesser, Matthias [University Hospital of Muenster, Department of Nuclear Medicine (Germany); Juergens, Kai U.; Wormanns, Dag [University Hospital of Muenster, Department of Clinical Radiology (Germany); Kliesch, Sabine [University Hospital of Muenster, Department of Urology (Germany)

    2007-07-15

    Fibrous dysplasia is a common benign disorder of bone in which fibro-osseous tissue replaces bone spongiosa. Lesions have a typical appearance on computed tomography (CT) images and regularly show a markedly increased uptake in bone scintigraphy using {sup 99m}Tc-labelled methylene diphosphonate ({sup 99m}Tc-MDP) as radiotracer. The glucose avidity of these lesions depicted by positron emission tomography (PET) using the radiolabelled glucose derivative {sup 18}F-fluoro-2-deoxy-glucose (FDG) is less well known since FDG-PET does not have a role in the assessment of this disease. However, single cases have been reported in which fibrous dysplasia was present in patients undergoing FDG-PET scanning for oncological reasons, and no significant FDG uptake was observed for lesions identified as fibrous dysplasia. We report on a 24-year-old man with known fibrous dysplasia who underwent combined FDG-PET/CT scanning because of suspected recurrence of testicular cancer. In contrast to prior reports, a markedly elevated uptake of FDG was seen in numerous locations that were identified as fibrous dysplasia by CT. Based on this result, we conclude that fibrous dysplasia may mimick malignancy in FDG-PET and that coregistered CT may help to resolve these equivocal findings. (orig.)

  5. CT of the "Tegernsee Giant": juvenile gigantism and polyostotic fibrous dysplasia.

    Science.gov (United States)

    Vogl, T J; Nerlich, A; Dresel, S H; Bergman, C

    1994-01-01

    We report the radiological findings in the unusual case of the Bavarian "Tegernsee Giant." With conventional radiography, CT, and histologic examination, we succeeded in diagnosing two disorders: The Tegernsee Giant suffered from (a) juvenile gigantism caused by a growth hormone-secreting tumor of the pituitary gland and (b) a polyostotic form of fibrous dysplasia of the skull and multiple bones particularly on the left side of the body.

  6. Polyostotic Fibrous Dysplasia with Epiphyseal Involvement in Long Bones: A Case Report

    Directory of Open Access Journals (Sweden)

    Tomoaki Fukui

    2013-01-01

    Full Text Available Fibrous dysplasia (FD is an uncommon, but well-known benign skeletal disorder. In cases affecting long bones, FD is commonly recognized to locate in the diaphyses or the metaphyses and to spare the epiphyses. In this paper, we present a rare case of polyostotic FD in a 13-year-old girl with unilateral multiple epiphyseal lesions arising in the femur, the tibia, and the fibula with the growth plates.

  7. Visual impairment from fibrous dysplasia in a middle-aged African man: a case report

    Directory of Open Access Journals (Sweden)

    Bekibele Charles O

    2009-01-01

    Full Text Available Abstract Introduction Fibrous dysplasia is a benign tumour of the bones and is a disease of unknown aetiology. This report discusses a case of proptosis and visual deterioration with associated bony mass involving the right orbit. Case presentation A 32-year-old Nigerian man of Yoruba ethnic origin presented to the eye clinic of our hospital with right-eye proptosis and visual deterioration of 7-year duration. Presentation was preceded by a history of trauma. Proptosis was preceded by trauma but was non-pulsatile with no thrill or bruit but was associated with bony orbital mass. The patient reported no weight loss. Examination of his right eye showed visual acuity of 6/60 with relative afferent pupillary defect. Fundal examination revealed optic atrophy. Computed tomography showed an expansile bony mass involving all the walls of the orbit. The bony orbital mass was diagnosed histologically as fibrous dysplasia. Treatment included orbital exploration and orbital shaping to create room for the globe and relieve pressure on the optic nerve. Conclusion Fibrous dysplasia should be considered in the differential diagnosis of slowly developing proptosis with associated visual loss in young adults.

  8. Fibrous dysplasia of the cranial vault: quantitative analysis based on neural networks

    International Nuclear Information System (INIS)

    Arana, E.; Marti-Bonmati, L.; Paredes, R.; Molla, E.

    1998-01-01

    To assess the utility of statistical analysis and neural networks in the quantitative analysis of fibrous dysplasia of the cranial vault. Ten patients with fibrous dysplasia (six women and four men with a mean age of 23.60±17.85 years) were selected from a series of 167 patients with lesions of the cranial vault evaluated by plain radiography and computed tomography (CT). Nineteen variables were taken from their medical records and radiological study. Their characterization was based on statistical analysis and neural network, and was validated by means of the leave-one-out method. The performance of the neural network was estimated by means of receiver operating characteristics (ROC) curves, using as a parameter the area under the curve A z . Bivariate analysis identified age, duration of symptoms, lytic and sclerotic patterns, sclerotic margin, ovoid shape, soft-tissue mas and periosteal reaction as significant variables. The area under the neural network curve was 0.9601±0.0435. The network selected the matrix and soft-tissue mass a variables that were indispensable for diagnosis. The neural network presents a high performance in the characterization of fibrous dysplasia of the cranial vault, disclosing occult interactions among the variables. (Author) 24 refs

  9. Fibrous Dysplasia with Massive Cartilaginous Differentiation (Fibrocartilaginous Dysplasia in the Proximal Femur: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Hideo Morioka

    2016-02-01

    Full Text Available Fibrous dysplasia (FD is a monostotic or polyostotic benign bone lesion with spindle-cell proliferation in woven bone and stroma. Rarely, cartilaginous differentiation can be seen in the lesions of FD. FD with massive cartilaginous differentiation is called fibrocartilaginous dysplasia (FCD and is considered a rare variant of FD. Although pathological findings of FD show irregular immature bone formation without osteoblastic rimming in fibrous tissue, and rarely show very small amounts of cartilage, histological images of FCD are said to show that cartilage with a relatively high cell density is present in the majority and that FD-like findings are seen in parts of it. The most characteristic feature of FCD on images is calcification in the lesions reflecting cartilaginous tissue. On the other hand, typical radiographic findings of FD include shadows with a ground-glass appearance and thinning and bulging of the cortical bone, the observation if calcification is not usual. Therefore, in the diagnosis of FCD, differentiation from multiple enchondromatosis, Ollier disease, chondrosarcoma, and chondrosarcoma secondary to FD is necessary, and it seems important to make a careful diagnosis based not only on the pathological findings but also on imaging and clinical findings. Herein, we report on a case of FD of the proximal femur associated with intralesional extensive cartilaginous differentiation in which a pathological fracture occurred during follow-up, with a review of the literature.

  10. Gigantism treated by pure endoscopic endonasal approach in a case of McCune-Albright syndrome with sphenoid fibrous dysplasia: a case report.

    Science.gov (United States)

    Sharifi, Guive; Jalessi, Maryam; Sarvghadi, Farzaneh; Farhadi, Mohammad

    2013-12-01

    McCune-Albright syndrome (MAS) is an uncommon polyostotic manifestation of fibrous dysplasia in association with at least one endocrinopathy that is mostly associated with precocious puberty and hyperpigmented skin macules named café-au-lait spots. We present an atypical manifestation of McCune-Albright syndrome in a 19-year-old man with the uncommon association of polyostotic fibrous dysplasia and gigantism in the absence of café-au-lait spots and precocious puberty. He presented with a height increase to 202 cm in the previous 3 years, which had become more progressive in the few months prior. Physical examination revealed only a mild facial asymmetry; however, a computed tomography (CT) scan discovered vast areas of voluminous bones with ground-glass density and thickening involving the craniofacial bones and skull base. Magnetic resonance imaging (MRI) found a right stalk shift of the pituitary with a 20 mm pituitary adenoma. We describe the diagnostic and endoscopic endonasal transsphenoidal approach for excision of the tumor. Georg Thieme Verlag KG Stuttgart · New York.

  11. Skeletal dysplasia with craniofacial deformity and disproportionate dwarfism in hair sheep of northeastern Brazil.

    Science.gov (United States)

    Dantas, F P M; Medeiros, G X; Figueiredo, A P M; Thompson, K; Riet-Correa, F

    2014-01-01

    This paper reports a newly described form of skeletal dysplasia affecting Brazilian hair sheep of the Cabugi breed. This breed is characterized by having a short head and in some cases the animals are smaller and more compact than sheep of similar breeds. Lambs born with craniofacial abnormalities and dwarfism that die at 2-6 months of age are frequent in this breed. In a flock of 68 ewes and three rams of the Cabugi breed, 134 lambs were born over a 4-year period. Of these, 14 (10.4%) had marked cranial abnormalities and dwarfism and died or were humanely destroyed, 43 (32%) had a normal face and 77 (57.5%) had the short face characteristic of the breed. Dwarf lambs were much smaller than normal, with short legs, a domed head with retruded muzzle and protruded mandible, sternal deformities and exophthalmic eyes situated more laterally in the face than normal. Microscopical examination of long bones of the limbs, bones of the base of the skull and vertebrae showed no lesions. Bones from four affected lambs and one control lamb were macerated for morphometric examination. Although the length of the spinal cord was similar, there was disproportionate shortening of the appendicular bones, particularly the distal segments. Thus the disease was defined as a skeletal dysplasia characterized by craniofacial deformity and disproportionate dwarfism. It is suggested that the disease is inherited as an incomplete dominant trait. The shortened face, which is a feature of the Cabugi breed, may represent the heterozygous state and the more severe, often lethal, dwarfism may occur in homozygotes. Copyright © 2013 Elsevier Ltd. All rights reserved.

  12. A case of monostotic fibrous dysplasia of proximal femur managed with curettage and cortical bone grafting

    Directory of Open Access Journals (Sweden)

    A D Sud

    2013-01-01

    Full Text Available We present a case report of a young military personnel with monostotic fibrous dysplasia of proximal femur with painful, dysplasticlesion of the femoral neck and fatigue fracture who underwent cortical bone grafting using autogenous fibular strut graft and iliac crest bone graft. The fibular cortical grafts was used to bridge the lesion in the femoral neck and were securely anchored to the normal bone of the lateral femoral cortex and a head of the femur. No supplemental internal fixation was required.

  13. Ewing's sarcoma of the humerus mimicking fibrous dysplasia on imaging and biological behavior

    International Nuclear Information System (INIS)

    Sundaram, Murali; Inwards, Carrie Y.; Shives, Thomas E.; Anderson, Peter M.

    2005-01-01

    We present the case of a 12-year-old girl who presented with a pathological fracture through a benign-appearing osteolytic lesion that was presumed to represent fibrous dysplasia. The fracture healed, and over the next 2.5 years there was further refracturing and healing with progressive osteolysis. A biopsy was performed and revealed Ewing's sarcoma. The disease was locally controlled by neoadjuvant chemotherapy and radiation therapy. The patient is disease free with excellent function 6 years following the discovery of the lesion. We illustrate and discuss the sequence of events. (orig.)

  14. 2 case reports of the polyostotic fibrous dysplasia on the cranial and maxillofacial bones of the sisters

    International Nuclear Information System (INIS)

    Kim, Han Pyung; Park, Chang Seo

    1979-01-01

    The authors observed 2 cases of fibrous dysplasia on the cranial and maxillofacial bones in 31.28 aged sisters, who had come to the Infirmary of Dental College, Yonsei University. The serial roentgenograms and clinical findings had been taken and the results established as polyostotic fibrous dysplasia according to the findings in their images. To author have obtained the results as follows: 1. Bony expansion of the mandible occurred at 18 years of age and the facial asymmetry appeared due to development of the lesions. 2. The traumatic history were not noted but weak tendency of familial history noted. 3. Endocrine disturbances, hyperpigmentation on the skin and premature puberty in the infancy were not noted. 4. We have concluded these diseases as polyostotic fibrous dysplasia on the cranial and maxillofacial bones with weak familial tendency according to the findings.

  15. Monostotic fibrous dysplasia of a lumbar vertebral body with secondary aneurysmal bone cyst formation: a case report

    Directory of Open Access Journals (Sweden)

    Snieders Marieke N

    2009-06-01

    Full Text Available Abstract We report the case of a 25-year-old Caucasian woman with symptomatic monostotic fibrous dysplasia of the fourth lumbar vertebral body. The patient suffered from a five-week history of progressive low back pain, radiating continuously to the left leg. Her medical history and physical and neurological examination did not demonstrate any significant abnormalities. Radiographs, computed tomography and magnetic resonance imaging revealed an osteolytic expansive lesion with a cystic component of the fourth lumbar vertebral body. Percutaneous transpedicular biopsy showed histological characteristics of fibrous dysplasia superimposed by the formation of aneurysmal bone cyst components. The patient was treated by subtotal vertebrectomy of the L4 vertebral body with anterior reconstruction and her postoperative course was uncomplicated. To our knowledge, this is the first reported case of a monostotic fibrous dysplasia with superimposed secondary aneurysmal bone cysts of a lumbar vertebral body.

  16. Displasia fibrosa do clivus: relato de caso Fibrous dysplasia of the clivus: case report

    Directory of Open Access Journals (Sweden)

    Asdrubal Falavigna

    2006-06-01

    Full Text Available Relatamos o caso de uma paciente de 43 anos com história de cefaléia crônica e diplopia. O exame neurorradiológico demonstrou aumento de volume e alteração na densidade óssea do clivus. Foi submetida a cirurgia e o exame anatomopatológico evidenciou displasia fibrosa. Foram relatados na literatura outros 14 casos de displasia fibrosa envolvendo o clivus. Discutimos essa rara apresentação da doença segundo o quadro clínico, exames de imagem, histologia e tratamento.We describe the case of a 43 year-old woman with chronic headache and diplopia. The neurorradiologic exam showed volume increase and alteration in the bone density of the clivus. She was submitted to surgery and the anatomopathologic evidenced fibrous dysplasia. Other 14 of about fibrous dysplasia involving the clivus are related in the literature. We discuss clinical aspects, image exams, histology and treatment of this rare presentation of the disease.

  17. Fibrous Dysplasia

    Science.gov (United States)

    ... endocrine problems such as early puberty (precocious puberty), hyperthyroidism (excess thyroid hormone), excess growth hormone (gigantism or ... awareness and enhance knowledge and understanding of the prevention, early detection, and treatment of these diseases as ...

  18. Monostotic fibrous dysplasia of a lumbar vertebral body with secondary aneurysmal bone cyst formation: a case report

    NARCIS (Netherlands)

    Snieders, N.M.E.; Kemenade, van F.J.; Royen, van B.J.

    2009-01-01

    We report the case of a 25-year-old Caucasian woman with symptomatic monostotic fibrous dysplasia of the fourth lumbar vertebral body. The patient suffered from a five-week history of progressive low back pain, radiating continuously to the left leg. Her medical history and physical and neurological

  19. Fluorescence in situ hybridization and molecular studies in infertile men with dysplasia of the fibrous sheath.

    Science.gov (United States)

    Baccetti, Baccio; Collodel, Giulia; Gambera, Laura; Moretti, Elena; Serafini, Francesca; Piomboni, Paola

    2005-07-01

    To perform fluorescence in situ hybridization (FISH) and molecular analysis in patients with the genetic sperm defect "dysplasia of the fibrous sheath" (DFS). Retrospective study. Regional Referral Center for Male Infertility, Siena, Italy. Twelve infertile patients with DFS sperm defects. Family history, lymphocytic karyotype, physical and hormonal assays, semen analysis. The DFS sperm phenotype was defined by light, fluorescent, and electron microscopy. Sperm chromosomal constitution was examined by FISH. Gene deletions were tested by polymerase chain reaction. The genetic sperm defect DFS was determined by transmission and scanning electron microscopy. Immunofluorescence staining of A-kinase anchoring protein 4 (AKAP4) showed a moderate and diffuse signal, revealing a disorganized and incompletely assembled fibrous sheath. In 11 of 12 DFS patients, polymerase chain reaction for detecting the presence of partial sequence of AKAP4/AKAP3 binding regions gave positive results. Fluorescence in situ hybridization was performed in decondensed sperm nuclei with probes for chromosomes 18, X, and Y. The mean disomy frequency of chromosome 18 was in the normal range, whereas the mean disomy frequencies of sex chromosomes and diploidies were twice those of controls. These results should be considered when DFS sperm are used in assisted reproductive technology, owing to the high risk of transmission of chromosomal unbalance and of DFS sperm defects to male offspring.

  20. Polyostotic fibrous dysplasia with gigantism and huge pelvic tumor: a rare case of McCune-Albright syndrome.

    Science.gov (United States)

    Sakayama, Kenshi; Sugawara, Yoshifumi; Kidani, Teruki; Fujibuchi, Taketsugu; Kito, Katsumi; Tanji, Nozomu; Nakamura, Atsushi

    2011-06-01

    We report a rare case of polyostotic fibrous dysplasia on endocrine hyperfunction with elevated human growth hormone and normal serum level of prolactin. There were some differential points of gender, gigantism, endocrine function, and GNAS gene from McCune-Albright syndrome. Malignant transformation was suspected in the pelvic tumor from imaging because rapid growth of the tumor by imaging was observed; however, no malignant change occurred in this case.

  1. Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership.

    Science.gov (United States)

    Boyce, A M; Turner, A; Watts, L; Forestier-Zhang, L; Underhill, A; Pinedo-Villanueva, R; Monsell, F; Tessaris, D; Burren, C; Masi, L; Hamdy, N; Brandi, M L; Chapurlat, R; Collins, M T; Javaid, Muhammad Kassim

    2017-12-01

    To develop consensus on improving the management of patients, we convened an international workshop involving patients, clinicians, and researchers. Key findings included the diagnostic delay and variability in subsequent management with agreement to develop an international natural history study. We now invite other stakeholders to join the partnership. The aim of this study was develop a consensus on how to improve the management of patients with fibrous dysplasia and prioritize areas for research METHODS: An international workshop was held over 3 days involving patients, clinicians, and researchers. Each day had a combination of formal presentations and facilitated discussions that focused on clinical pathways and research. The patient workshop day highlighted the variability of patients' experience in getting a diagnosis, the knowledge of general clinical staff, and understanding long-term outcomes. The research workshop prioritized collaborations that improved understanding of the contemporary natural history of fibrous dysplasia/McCune-Albright syndrome (FD/MAS). The clinical workshop outlined the key issues around diagnostics, assessment of severity, treatment and monitoring of patients. In spite of advances in understanding the genetic and molecular underpinnings of fibrous dysplasia/McCune-Albright syndrome, clinical management remains a challenge. From the workshop, a consensus was reached to create an international, multi-stakeholder partnership to advance research and clinical care in FD/MAS. We invite other stakeholders to join the partnership.

  2. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting

    Science.gov (United States)

    Riminucci, Mara; Collins, Michael T.; Fedarko, Neal S.; Cherman, Natasha; Corsi, Alessandro; White, Kenneth E.; Waguespack, Steven; Gupta, Anurag; Hannon, Tamara; Econs, Michael J.; Bianco, Paolo; Gehron Robey, Pamela

    2003-01-01

    FGF-23, a novel member of the FGF family, is the product of the gene mutated in autosomal dominant hypophosphatemic rickets (ADHR). FGF-23 has been proposed as a circulating factor causing renal phosphate wasting not only in ADHR (as a result of inadequate degradation), but also in tumor-induced osteomalacia (as a result of excess synthesis by tumor cells). Renal phosphate wasting occurs in approximately 50% of patients with McCune-Albright syndrome (MAS) and fibrous dysplasia of bone (FD), which result from postzygotic mutations of the GNAS1 gene. We found that FGF-23 is produced by normal and FD osteoprogenitors and bone-forming cells in vivo and in vitro. In situ hybridization analysis of FGF-23 mRNA expression identified “fibrous” cells, osteogenic cells, and cells associated with microvascular walls as specific cellular sources of FGF-23 in FD. Serum levels of FGF-23 were increased in FD/MAS patients compared with normal age-matched controls and significantly higher in FD/MAS patients with renal phosphate wasting compared with those without, and correlated with disease burden bone turnover markers commonly used to assess disease activity. Production of FGF-23 by FD tissue may play an important role in the renal phosphate–wasting syndrome associated with FD/MAS. PMID:12952917

  3. Fibrous dysplasia of the skull: Presentation of a case of radiological appearance not usual

    International Nuclear Information System (INIS)

    Botero Franco, Antonio; Benavides, Martha; Bermudez, Sonia

    1996-01-01

    A case of fibrous dysplasia of monostatic variety is presented in the skull that was interpreted initially as a cephalohaematome due to a traumatic antecedent. Patient of 17 years, of masculine sex who from the 6 years of age with posteriority to a crania encephalic trauma, it presents a hematoma in the right parietal region leaving as sequel a mass of hard consistency in this localization that increase of size in progressive form in the last six months, with associate migraine. Is practiced like initial study a x-ray of simple skull in which is evidenced an enlargement of the external chart and an area blended radiolucide of expansible aspect with hyperostosis areas and esclerotics margins in the right parietal region, compatible with a calcified haematoma. later on he is carried out tomography (TC) on line, of skull that demonstrates some similar discoveries with expansible commitment of the diploe and appropriate definition of the charts intern and external without intracranial lesion associate. The bony gammagraphy practiced with MDP-99m TC demonstrates the lesion like an area of evident focal severe hypercaptation in the tissular images and that one makes but defined in the compatible late phase with the presence of a calcified haematoma; later on, is practiced a right parietal craniotomy followed by cranioplasty with acrylic material

  4. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Collins Michael T

    2012-05-01

    Full Text Available Abstract Fibrous dysplasia (FD is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing syndrome, as well as other less common features. The combination of any of these findings, with or without FD, is known as McCune-Albright syndrome (MAS. The broad spectrum of involved tissues and the unpredictable combination of findings owe to the fact that molecular defect is due to dominant activating mutations in the widely expressed signaling protein, Gsα, and the fact these mutations arises sporadically, often times early in development, prior to gastrulation, and can distribute across many or few tissues. The complexity can be mastered by a systematic screening of potentially involved tissues and cognizance that the pattern of involved tissues is established, to some degree, in utero. Thorough testing allows the clinician to establish, often times at presentation, the full extent of the disease, and importantly as well what tissues are unaffected. Treatment and follow-up can then be focused on affected systems and a meaningful prognosis can be offered to the patient and family. The authors outline screening and treatment strategies that allow for effective management of the extraskeletal manifestations of FD.

  5. Computed tomography of Paget disease of the skull versus fibrous dysplasia

    International Nuclear Information System (INIS)

    Tehranzadeh, J.; Anavim, A.; Pribram, H.W.; Fung Ying; Donohue, M.

    1998-01-01

    Objective. Radiologists are often challenged to review CT examinations of the skull without pertinent clinical information or plain radiographs. Skull lesions of fibrous dysplasia (FD) may often be confused with Paget disease (PD). The purpose of this article is to evaluate radiographic similarities and to find the signs that can differentiate PD from FD of the skull on head CT and to describe the CT imaging features of PD and FD. Design and patients. CT scans of the skull in eight cases of PD, 18 cases of FD (13 cases of skull and facial bones, five cases of only facial bones) and 10 normals were studied retrospectively. Results. Ten features were found to be similar in PD and FD and 10 other features were found to be dissimilar. The frequency of the 10 differentiating features was evaluated to determine their reliability in distinguishing one disorder from the other. The differentiating features in order of significance include: (1) ''groundglass'' appearance, (2) symmetry, (3) involvement of the paranasal sinuses, (4) thickness of the cranial cortices, (5) involvement of the sphenoid bone, (6) orbital involvement, (7) nasal cavity involvement, (8) presence of a soft tissue mass, (9) maxillary involvement, and (10) the presence of cyst-like changes. Conclusion. These 10 signs improve the radiologist's skill in differentiating FD and PD. (orig.)

  6. Fibrous dysplasia of the maxilla in an elderly female: Case report on a 14-year quiescent phase

    International Nuclear Information System (INIS)

    Lee, Byung Do; Lee, Wan; Park, Yong Chan; Choi, Moon Ki; Kim, Myong Hyoun; Yoon, Jung Hoon

    2016-01-01

    Fibrous dysplasia (FD) is an uncommon skeletal disorder in which normal bone is replaced by abnormal fibroosseous tissue. Mainly, FD is found in children, and by adulthood it usually becomes quiescent. Our case showed FD of more than 14-year duration in the left maxilla. Our evaluation was that growth ceased in adulthood and had achieved the static stage. Because FD cases in elderly patients are rarely reported, we hereby present a monostotic FD case in a 65-year-old female. We presented sequential radiographic images and scintigraphic images of this case, and combined them with a literature review that emphasized the progression of the disease

  7. Fibrous dysplasia of the maxilla in an elderly female: Case report on a 14-year quiescent phase

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Byung Do; Lee, Wan; Park, Yong Chan; Choi, Moon Ki [College of Dentistry, Wonkwang University, Iksan (Korea, Republic of); Kim, Myong Hyoun [Dept. of Nuclear Medicine, Wonkwang University, School of Medicine and Institute of Wonkwang Medical Science, Iksan (Korea, Republic of); Yoon, Jung Hoon [Dept. of Oral and Maxillofacial Pathology, College of Dentistry, Wonkwang Bone Regeneration Research Institute, Daejeon Dental Hospital, Wonkwang University, Daejeon (Korea, Republic of)

    2016-12-15

    Fibrous dysplasia (FD) is an uncommon skeletal disorder in which normal bone is replaced by abnormal fibroosseous tissue. Mainly, FD is found in children, and by adulthood it usually becomes quiescent. Our case showed FD of more than 14-year duration in the left maxilla. Our evaluation was that growth ceased in adulthood and had achieved the static stage. Because FD cases in elderly patients are rarely reported, we hereby present a monostotic FD case in a 65-year-old female. We presented sequential radiographic images and scintigraphic images of this case, and combined them with a literature review that emphasized the progression of the disease.

  8. Disrupted bone remodeling leads to cochlear overgrowth and hearing loss in a mouse model of fibrous dysplasia.

    Directory of Open Access Journals (Sweden)

    Omar Akil

    Full Text Available Normal hearing requires exquisite cooperation between bony and sensorineural structures within the cochlea. For example, the inner ear secretes proteins such as osteoprotegrin (OPG that can prevent cochlear bone remodeling. Accordingly, diseases that affect bone regulation can also result in hearing loss. Patients with fibrous dysplasia develop trabecular bone overgrowth resulting in hearing loss if the lesions affect the temporal bones. Unfortunately, the mechanisms responsible for this hearing loss, which could be sensorineural and/or conductive, remain unclear. In this study, we used a unique transgenic mouse model of increased Gs G-protein coupled receptor (GPCR signaling induced by expression of an engineered receptor, Rs1, in osteoblastic cells. These ColI(2.3+/Rs1+ mice showed dramatic bone lesions that histologically and radiologically resembled fibrous dysplasia. We found that ColI(2.3+/Rs1+ mice showed progressive and severe conductive hearing loss. Ossicular chain impingement increased with the size and number of dysplastic lesions. While sensorineural structures were unaffected, ColI(2.3+/Rs1+ cochleae had abnormally high osteoclast activity, together with elevated tartrate resistant acid phosphatase (TRAP activity and receptor activator of nuclear factor kappa-B ligand (Rankl mRNA expression. ColI(2.3+/Rs1+ cochleae also showed decreased expression of Sclerostin (Sost, an antagonist of the Wnt signaling pathway that normally increases bone formation. The osteocyte canalicular networks of ColI(2.3+/Rs1+ cochleae were disrupted and showed abnormal osteocyte morphology. The osteocytes in the ColI(2.3+/Rs1+ cochleae showed increased expression of matrix metalloproteinase 13 (MMP-13 and TRAP, both of which can support osteocyte-mediated peri-lacunar remodeling. Thus, while the ossicular chain impingement is sufficient to account for the progressive hearing loss in fibrous dysplasia, the deregulation of bone remodeling extends to the

  9. Fibrous dysplasia and McCune–Albright syndrome: Imaging for positive and differential diagnoses, prognosis, and follow-up guidelines

    International Nuclear Information System (INIS)

    Bousson, Valérie; Rey-Jouvin, Caroline; Laredo, Jean-Denis; Le Merrer, Martine; Martin-Duverneuil, Nadine

    2014-01-01

    Highlights: • The radiologist plays a critical role at all steps of the management of patients with fibrous dysplasia (FD) and McCune–Albright syndrome (MAS). • Specific recommendations are provided as key points for the diagnosis, prognosis, and follow-up of patients with FD/MAS. • We believe the dissemination of these recommendations within the radiology community may substantially improve the management of patients with these rare but potentially disabling conditions. - Abstract: Purpose: The radiologist plays a critical role at all steps of the management of patients with fibrous dysplasia (FD) and McCune–Albright syndrome (MAS). The development of a standardized approach to the management of FD/MAS is crucial given the low incidence and multiple clinical presentations of these conditions. Our aim was to develop recommendations for bone imaging in FD/MAS management. Materials and methods: The establishment of National Reference Centers in France as part of a Health Ministry program for orphan diseases has triggered the development of recommendations for the clinical management of FD/MAS. We used a well-established robust methodological approach involving an extensive literature review by a multidisciplinary working group (20 healthcare professionals) and scoring by a peer-review group (20 healthcare professionals different from the 20 previous ones). There were four phases: a systematic literature review, drafting of initial recommendations, peer-review of this initial draft, and drafting of the final recommendations. Results: Fifty-seven specific recommendations are provided as key points for the diagnosis, prognosis, and follow-up of patients with FD/MAS. Issues of special interest are highlighted in the discussion, and areas in which future research is needed are identified. Conclusion: We believe the dissemination of these recommendations within the radiology community may facilitate communication between radiologists and other healthcare

  10. Fibrous dysplasia and McCune–Albright syndrome: Imaging for positive and differential diagnoses, prognosis, and follow-up guidelines

    Energy Technology Data Exchange (ETDEWEB)

    Bousson, Valérie, E-mail: valerie.bousson@lrb.aphp.fr [Radiologie Ostéo-Articulaire, AP-HP, Hôpital Lariboisière, 2 rue Ambroise Paré, 75010 Paris (France); Université Paris VII Denis Diderot, Sorbonne Paris Cité (France); Rey-Jouvin, Caroline, E-mail: c.reyjouvin@gmail.com [Rhumatologie Viggo Petersen, AP-HP, Hôpital Lariboisière, 2 rue Ambroise Paré, 75010 Paris (France); Université Paris VII Denis Diderot, Sorbonne Paris Cité (France); Laredo, Jean-Denis, E-mail: jean-denis.laredo@lrb.aphp.fr [Radiologie Ostéo-Articulaire, AP-HP, Hôpital Lariboisière, 2 rue Ambroise Paré, 75010 Paris (France); Université Paris VII Denis Diderot, Sorbonne Paris Cité (France); Le Merrer, Martine, E-mail: martine.lemerrer@inserm.fr [Service de génétique médicale, AP-HP, Hôpital Necker – Enfants malades, 149 rue de Sèvres, 75743 Paris Cedex 15 (France); Martin-Duverneuil, Nadine, E-mail: nadine.martin-duverneuil@psl.aphp.fr [Service de Neuroradiologie, AP-HP, Hôpital Pitié Salpêtrière, 47 Boulevard de l’hôpital, 75013 Paris (France); and others

    2014-10-15

    Highlights: • The radiologist plays a critical role at all steps of the management of patients with fibrous dysplasia (FD) and McCune–Albright syndrome (MAS). • Specific recommendations are provided as key points for the diagnosis, prognosis, and follow-up of patients with FD/MAS. • We believe the dissemination of these recommendations within the radiology community may substantially improve the management of patients with these rare but potentially disabling conditions. - Abstract: Purpose: The radiologist plays a critical role at all steps of the management of patients with fibrous dysplasia (FD) and McCune–Albright syndrome (MAS). The development of a standardized approach to the management of FD/MAS is crucial given the low incidence and multiple clinical presentations of these conditions. Our aim was to develop recommendations for bone imaging in FD/MAS management. Materials and methods: The establishment of National Reference Centers in France as part of a Health Ministry program for orphan diseases has triggered the development of recommendations for the clinical management of FD/MAS. We used a well-established robust methodological approach involving an extensive literature review by a multidisciplinary working group (20 healthcare professionals) and scoring by a peer-review group (20 healthcare professionals different from the 20 previous ones). There were four phases: a systematic literature review, drafting of initial recommendations, peer-review of this initial draft, and drafting of the final recommendations. Results: Fifty-seven specific recommendations are provided as key points for the diagnosis, prognosis, and follow-up of patients with FD/MAS. Issues of special interest are highlighted in the discussion, and areas in which future research is needed are identified. Conclusion: We believe the dissemination of these recommendations within the radiology community may facilitate communication between radiologists and other healthcare

  11. Fibrous dysplasia mimicking bone metastasis on both bone scintigraphy and {sup 18}F FDG PET CT: Diagnostic dilemma in a patient with breast cancer

    Energy Technology Data Exchange (ETDEWEB)

    KC, Sud Hir Suman; Sharma, Punit; Singh, Har Man Deep; Bal, Chand Rasekhar; Kumar, Rake Sh [India Institute of Medical Sciences, New Delhi (India)

    2012-12-15

    Bone is the most common distant site to which breast cancer metastasizes. Commonly used imaging modalities for imaging bone metastasis are bone scintigraphy, plain radiography, computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET). Although bone scintigraphy gas high sensitivity for detecting bone metastasis, its specificity is low. This is because of the fact that bone scintigraphy images secondary changes in bone rather than just tumor cells {sup 18}F fluorodeoxyglucose ({sup 18}F FDG) PET CT, on the other hand, directly images the tumor cells' glucose metabolism. Unfortunately, similar to bone scintigraphy, benign bone conditions can also show increased {sup 18}F FDG uptake on PET CT, and PET positive asymptomatic fibrous dysplasia can be misinterpreted as a metastasis. Fibrous dysplasia of bone has wide skeletal distribution, with variability of {sup 18}F FDG uptake and CT appearance. It is therefore important to recognize the characteristics of this skeletal dysplasia, to allow differentiation from skeletal metastasis. Bone lesions with {sup 18}F FDG uptake need to be carefully interpreted when evaluating patients with known malignancy. In doubtful cases, fibrous dysplasia should be given as a differential diagnosis and histopathological diagnosis may be warranted, as highlighted in the present case.

  12. Fibrous dysplasia mimicking bone metastasis on both bone scintigraphy and 18F FDG PET CT: Diagnostic dilemma in a patient with breast cancer

    International Nuclear Information System (INIS)

    KC, Sud Hir Suman; Sharma, Punit; Singh, Har Man Deep; Bal, Chand Rasekhar; Kumar, Rake Sh

    2012-01-01

    Bone is the most common distant site to which breast cancer metastasizes. Commonly used imaging modalities for imaging bone metastasis are bone scintigraphy, plain radiography, computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET). Although bone scintigraphy gas high sensitivity for detecting bone metastasis, its specificity is low. This is because of the fact that bone scintigraphy images secondary changes in bone rather than just tumor cells 18 F fluorodeoxyglucose ( 18 F FDG) PET CT, on the other hand, directly images the tumor cells' glucose metabolism. Unfortunately, similar to bone scintigraphy, benign bone conditions can also show increased 18 F FDG uptake on PET CT, and PET positive asymptomatic fibrous dysplasia can be misinterpreted as a metastasis. Fibrous dysplasia of bone has wide skeletal distribution, with variability of 18 F FDG uptake and CT appearance. It is therefore important to recognize the characteristics of this skeletal dysplasia, to allow differentiation from skeletal metastasis. Bone lesions with 18 F FDG uptake need to be carefully interpreted when evaluating patients with known malignancy. In doubtful cases, fibrous dysplasia should be given as a differential diagnosis and histopathological diagnosis may be warranted, as highlighted in the present case

  13. la dysplasie fibreuse du rocher fibrous dysplasia of the temporal bone

    African Journals Online (AJOL)

    view of the disease and its manifestations in the temporal bone. Ann. OtolRhinolLaryngol 1982;92(Suppl.): 1–52. 5- Papadakis CE, Skoulakis CE, Propakapis EP, et al. Fibrous dyspla- sia of the temporal bone: report of a case and review of its characteris- tics. Ear Nose Throat J, 2000;79:52–57. 6- Yang H, Chen S, Zheng Y, ...

  14. Recognition of fibrous dysplasia of bone mimicking skeletal metastasis on 18F-FDG PET/CT imaging

    International Nuclear Information System (INIS)

    Su, Ming Gang; Tian, Rong; Fan, Qiu Ping; Tian, Ye; Li, Fang Lan; Li, Lin; Kuang, An Ren; Miller, John Howard

    2011-01-01

    Fibrous dysplasia of bone (FDB) reveals intense 18F-FDG uptake mimicking metastases on 18F-FDG PET/CT. We reviewed sites of FDB revealed by 18F-FDG PET/CT imaging to allow identification of this abnormality. Eleven patients (7 male, 4 female, aged 16-78 years) were evaluated after 55 MBq (0.15 mCi)/kg 18F-FDG utilizing a 16-slice multiple detector CT (MDCT) whole-body PET scanner, with LOR algorithm 3D reconstruction. One- and 2-h imaging was performed in 9 patients. Standard uptake value (SUV) for each lesion, on early and delayed imaging, was calculated. Lesions were confirmed in 6 patients by biopsy. The PET images correlated with MDCT to establish the imaging characteristics. Solitary lesions were found in 4 patients, two lesions in 1 patient, and in 6 patients there were multiple bone lesions. The SUV early ranged from 1.23 to 9.64 with an average of 3.76 ± 2.40. The SUV delayed ranged from 1.76 to 11.42 with an average of 4.51 ± 3.07. The SUV delayed decreased or increased slightly (-31% to 5%) in 6 of our patients, and increased significantly (11% to 39%) in 3. There was a negative correlation between SUVs and age, as well as the number of affected bones. In our study, FDB had wide skeletal distribution with variability of 18F-FDG uptake and CT appearance. SUV in the delayed stage was seen to either decrease or increase on dual-time 18F-FDG PET scanning. It is very important to recognize the characteristics of this skeletal dysplasia to allow differentiation from skeletal metastasis. (orig.)

  15. Evaluation and Comparison of the Biopathology of Collagen and Inflammation in the Extracellular Matrix of Oral Epithelial Dysplasias and Inflammatory Fibrous Hyperplasia Using Picrosirius Red Stain and Polarising Microscopy: A Preliminary Study.

    Science.gov (United States)

    Varghese, Soma Susan; Sarojini, Sreenivasan Bargavan; George, Giju Baby; Vinod, Sankar; Mathew, Philips; Babu, Anulekh; Sebastian, Joseph

    2015-12-01

    The role of tumour inflammation and the dysplastic epithelial-stromal interactions on the nature of collagen fibres in the extracellular matrix of dysplastic epithelium is not fully understood. The present study was aimed to evaluate and compare the inflammation and pathological stromal collagen (loosely packed thin disorganized collagen) present in mild, moderate and severe epithelial dysplasias with that of inflammatory fibrous hyperplasias. The basement membrane intactness of epithelial dysplasias was also evaluated to determine if dysplastic epithelial mesenchymal interaction has any role in the integrity of stromal collagen in epithelial dysplasia. Oral epithelial dysplasias, inflammatory fibrous hyperplasia and normal oral mucosal samples were used for the study. Packing, thickness and orientation of collagen fibres in mild, moderate and severe grades of oral epithelial dysplasias (n = 24), inflammatory fibrous hyperplasia (n = 8) and normal oral mucosal samples (n = 8) were analysed based on the polarisation of collagen fibres in picrosirius red polarising stain under polarising microscope. All the grades of epithelial dysplasias showed greenish yellow birefringence confirming the presence of loosely arranged pathological collagen in the presence of moderate inflammation. All the cases of inflammatory fibrous hyperplasia showed red polarisation hue and moderate inflammation. A statistically significant difference was found in the packing and orientation of collagen when epithelial dysplasias and inflammatory fibrous hyperplasia were compared (P collagen even in mild epithelial dysplasia suggests that tumourigenic factors are released to connective tissue stroma much earlier than expected. Hence we suggest considering the integrity of extracellular matrix collagen, intactness of basement membrane and inflammation associated with dysplasia along with the anaplasia of epithelial cells in the microscopic assessment of dysplastic epithelium.

  16. Displasia fibrosa do osso temporal: relato de dois casos Fibrous dysplasia of the temporal bone: report of two cases

    Directory of Open Access Journals (Sweden)

    Roberto Claudio B. Oliveira

    2004-10-01

    Full Text Available A displasia fibrosa do osso temporal é uma doença de etiologia ainda controversa, manifestando-se principalmente por estenose progressiva do conduto auditivo externo e pela perda condutiva da audição. Outras manifestações incluem abaulamento na região temporal ou retroauricular, otorréia, otalgia e disacusia sensório-neural. A incidência é maior no sexo masculino e acomete principalmente a raça branca. O exame radiológico característico demonstra um aspecto de "vidro-fosco" homogêneo envolvido por uma concha de tecido cortical denso, embora existam outros padrões radiológicos desta enfermidade. O exame microscópico demonstra um trabeculado ósseo semelhante aos caracteres chineses. Este estudo relata dois casos de displasia fibrosa do osso temporal que se destacam, pois ultrapassaram o osso temporal, acometendo a região zigomática, sendo que no segundo caso houve também comprometimento do osso esfenóide e o pterigóide. Os pacientes foram submetidos à mastoidectomia radical modificada e tiveram boa evolução.Fibrous dysplasia of the temporal bone (FDTB is a disorder which etiology is still controversial. Its main clinical feature is a progressive narrowing of the external auditory canal following by conductive hearing loss. Temporal or retroauricular enlargement, ear discharge, otalgia, and sensorineural hearing loss are additional findings. Women and Caucasians are more affected. The prominent finding is a homogeneous radiodense "grounded glass" like image shell surrounded by dense cortical tissue. However, other radiological patterns of this disease may be displayed. Microscopically, a trabecular of bone in "Chinese letter" configuration is found. The two cases of FDTB herein reported are particularly special for a far beyond temporal commitment reaching the zygomatic area in the first case and sphenoid and pterygoid bones in the second one. This infrequent clinical feature with unusual radiological findings made these

  17. Displasia fibrosa maxilar poliostótica en paciente tratada con pamidronato: a propósito de un caso Maxilar polyostotic fibrous dysplasia treated with pamidronate: A case report

    Directory of Open Access Journals (Sweden)

    José María López-Arcas

    2011-06-01

    Full Text Available El término displasia fibrosa hace referencia a un conjunto de lesiones óseas benignas que se caracterizan por la sustitución del tejido óseo normal por tejido conectivo. Se presenta el caso de una paciente afectada de displasia fibrosa poliostótica de predominio maxilar tratada de forma conservadora con bisfosfonatos.The term fibrous dysplasia refers to a variety of bony diseases characterized by the substituion of the bone by abnormal connective tissue. A case report of patient affected by a polyostotic form of fibrous dysplasia with an uneven evolution of its disease after being treated with pamidronate is presented.

  18. Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Corsi, Alessandro; Riminucci, Mara [Sapienza University, Department of Molecular Medicine, Rome (Italy); Ippolito, Ernesto [University of Rome Tor Vergata, Department of Orthopaedic Surgery, Rome (Italy); Robey, Pamela G. [Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD (United States); Boyde, Alan [Queen Mary University of London, Dental Physical Sciences, London (United Kingdom)

    2017-10-15

    Bisphosphonates (BPs) are currently used in the treatment of diverse bone diseases including fibrous dysplasia of bone (FD). In pediatric patients, a radiographic consequence of cyclical administration of BPs is the development of apo-, epi-, and meta-physeal sclerotic bands, otherwise known as zebra lines, which result from the temporary inhibition of osteoclastic activity at the time of drug treatment. We report here on a child with McCune-Albright syndrome (FD in addition to hyperfunctioning endocrinopathies and skin hyperpigmentation) treated with cyclical intravenous infusions of pamidronate in which conventional radiography, contact microradiography, histology, and backscattered electron image analysis demonstrated that zebra lines formed only where bone was normal, were arrested at the boundary between FD-unaffected and FD-affected bone where bone is sclerotic, and were absent within the undermineralized FD bone. Moreover, in spite of the treatment, the FD lesions continued to expand. This case report is unique because no previously published studies correlated the radiographic and the histologic features of BP-induced zebra lines in the metaphysis of an FD-affected long bone of the limbs. (orig.)

  19. Fibrous dysplasia: an unusual case of a very aggressive form with costo-vertebral joint destruction and invasion of the contralateral D7 vertebral body.

    Science.gov (United States)

    Zoccali, Carmine; Attala, Dario; Rossi, Barbara; Zoccali, Giovanni; Ferraresi, Virginia

    2018-05-23

    Fibrous dysplasia (FD) is a benign fibro-osseous disease of the bone that may be solitary or multicentric. It is important to distinguish this type of lesion from low-grade osteosarcomas (LGOS) and from secondary sarcomas, because malignant transformation has rarely been reported. It is classically described as having a ground-glass appearance, endosteal scalloping, and thinning of the cortex. Cortical disruption is considered evidence of malignancy, but it can also be present in benign FD with aggressive behavior. We present an unusual case of aggressive FD of the 7th left rib, already diagnosed more than 22 years ago, where cortical and costo-vertebral joint disruption and 7th thoracic vertebral body involvement were not evidence of malignant behavior. From a histological perspective, FD and LGOS are similar; even if histology is of fundamental importance, the diagnosis has to be made based on the clinical and radiological aspects as well, although at imaging, differentiation between FD and LGOS can be difficult. In the present case, even though the histological examination suggested a benign lesion, the radiological examination instead consistently suggests malignancy. It is for this reason that there should be a high index of suspicion during follow-up and a new biopsy should be scheduled in case any changes occur during follow-up.

  20. Bisphosphonate-induced zebra lines in fibrous dysplasia of bone: histo-radiographic correlation in a case of McCune-Albright syndrome

    International Nuclear Information System (INIS)

    Corsi, Alessandro; Riminucci, Mara; Ippolito, Ernesto; Robey, Pamela G.; Boyde, Alan

    2017-01-01

    Bisphosphonates (BPs) are currently used in the treatment of diverse bone diseases including fibrous dysplasia of bone (FD). In pediatric patients, a radiographic consequence of cyclical administration of BPs is the development of apo-, epi-, and meta-physeal sclerotic bands, otherwise known as zebra lines, which result from the temporary inhibition of osteoclastic activity at the time of drug treatment. We report here on a child with McCune-Albright syndrome (FD in addition to hyperfunctioning endocrinopathies and skin hyperpigmentation) treated with cyclical intravenous infusions of pamidronate in which conventional radiography, contact microradiography, histology, and backscattered electron image analysis demonstrated that zebra lines formed only where bone was normal, were arrested at the boundary between FD-unaffected and FD-affected bone where bone is sclerotic, and were absent within the undermineralized FD bone. Moreover, in spite of the treatment, the FD lesions continued to expand. This case report is unique because no previously published studies correlated the radiographic and the histologic features of BP-induced zebra lines in the metaphysis of an FD-affected long bone of the limbs. (orig.)

  1. Genetics Home Reference: frontonasal dysplasia

    Science.gov (United States)

    ... respective protein. As a result, the regulation of cell organization during development of the head and face is ... Craniofacial Association: A Guide to Understanding Frontonasal Dysplasia (PDF) Disease InfoSearch: ... Organization for Rare Disorders (NORD) Operation Smile Resource List ...

  2. Tratamiento de la displasia fibrosa asociada a hemofilia C: a propósito de un caso Treatment for fibrous dysplasia when associated with hemophilia C: A case report

    Directory of Open Access Journals (Sweden)

    T. Creo Martínez

    2007-12-01

    Full Text Available La displasia fibrosa es una enfermedad ósea benigna que cambia el tejido óseo normal por una proliferación de tejido conectivo. Se piensa que la alteración del gen Gsalfa es la principal razón de la enfermedad. La hemofilia C es una enfermedad sanguínea, hereditaria rara, que provoca hemorragias en pacientes afectos. Es autonómica recesiva, por lo que hombres y mujeres pueden estar afectos. Paciente de 13 años que desarrolla una displasia fibrosa en maxilar superior derecho que empieza con dolor durante la masticación de alimentos duros. Presenta abombamiento de vestíbulo y enrojecimiento de paladar derecho. Presenta un déficit discreto de factor XI (heterocigoto. Por ello, necesita una preparación especial antes de extirpar la lesión debido a su déficit. Se ha descubierto que la razón de la displasia fibrosa es la mutación del gen Gsalfa (GNAS1 que está en el cromosoma 20q. La causa de la hemofilia C es el déficit del factor XI debido a una mutación del gen FXI en el cromosoma 4. Quizás estas dos raras enfermedades tengan una relación, porque ambas se presentan en el mismo paciente.Fibrous Dysplasia is a benign bone disease that changes normal bone tissue for a proliferation of connective fibrous tissue. It is thought that an alteration of the Gsalpha gene is the main cause of the disease. Hemophilia C is a rare inherited blood disease leading to abnormal hemorrhages in affected patients. They have a factor XI deficiency. It is the least frequent of all hemophilias. It is a recessive autosomal disease, affecting both men and women. A 13 year-old patient developed fibrous dysplasia in right upper maxilla. The patient started with pain on chewing hard food. She had vestibular swelling and reddening of the right side of the palate. She had a discrete factor XI deficiency (heterozygotic. She needed special preparation before the lesion could be removed because of her deficiency. It has been discovered that the mutation of gene

  3. Achondroplasia: Craniofacial manifestations and considerations in dental management

    OpenAIRE

    Al-Saleem, Afnan; Al-Jobair, Asma

    2010-01-01

    Achondroplasia is the most common form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of dental interest because of its characteristic craniofacial features which include relative macrocephaly, depressed nasal bridge and maxillary hypoplasia. Presence of large head, implanted shunt, airway obstruction and difficulty in head control require special precautions during dental management. Craniofacial manifestations and c...

  4. Autosomal dominant craniometaphyseal dysplasia with atypical features.

    Science.gov (United States)

    McKay, D R; Fialkov, J A

    2002-03-01

    Craniometaphyseal dysplasia (CMD) is a rare genetic disorder of bone modelling characterised by hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses. Clinically, autosomal dominant (AD) CMD is characterised by facial distortion and cranial-nerve compression. The goals of surgical treatment for AD CMD are cosmetic recontouring of the sclerotic craniofacial bones, correction of nasal obstruction and correction or prevention of neurological manifestations. We describe the successful correction of AD CMD craniofacial manifestations in an individual with atypical findings, and outline an approach for correcting the craniofacial deformities associated with this rare disorder. Copyright 2002 The British Association of Plastic Surgeons.

  5. Cranioectodermal Dysplasia : A Probable Ciliopathy

    NARCIS (Netherlands)

    Konstantinidou, Anastasia E.; Fryssira, Helen; Sifakis, Stavros; Karadimas, Charalampos; Kaminopetros, Petros; Agrogiannis, Georgios; Velonis, Stylianos; Nikkels, Peter G. J.; Patsouris, Efstratios

    2009-01-01

    Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end-stage renal failure. We report on a new familial case

  6. Ectodermal dysplasias

    Science.gov (United States)

    Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; Anondontia; Incontinentia pigmenti ... These resources can provide more information on ectodermal dysplasias: Ectodermal Dysplasia Society -- www.ectodermaldysplasia.org National Foundation for ...

  7. A new lethal sclerosing bone dysplasia

    International Nuclear Information System (INIS)

    Kingston, H.M.; Freeman, J.S.; Hall, C.M.

    1991-01-01

    A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology. (orig.)

  8. Renal dysplasia in a Rhodesian Ridgeback dog

    International Nuclear Information System (INIS)

    Lobetti, R.G.; Pearson, J.; Jimenez, M.

    1996-01-01

    A six-month-old Rhodesian ridgeback dog was presented for evaluation of facial swelling. Chronic renal failure was clinically diagnosed based on urinalysis, biochemical changes and ultrasonography. The facial swelling was due to fibrous osteodystrophy, which was evident on survey radiographs of the skull. On post mortem examination, chronic renal failure as a result of renal dysplasia was confirmed. This is the first reported case of renal dysplasia in this breed of dog

  9. Craniofacial Surgery Fellowship Websites.

    Science.gov (United States)

    Silvestre, Jason; Agarwal, Divyansh; Taylor, Jesse A

    2016-06-01

    Applicants for craniofacial surgery fellowships utilize Internet-based resources like the San Francisco (SF) Match to manage applications. The purpose of this study was to evaluate the accessibility and content of craniofacial surgery fellowship websites (CSFWs). A list of available craniofacial surgery fellowships was compiled from directories of the American Society of Craniofacial Surgery (ACSFS) and SF Match. Accessibility of CSFWs was assessed via links from these directories and a Google search. Craniofacial surgery fellowship websites were evaluated on education and recruitment content and compared via program characteristics. Twenty-four of the 28 US-based craniofacial surgery fellowship programs had a CSFW (86%). The ACSFS and SF Match databases had limited CSFW accessibility, but a Google search revealed most CSFWs had the top search result (76%). In total, CSFWs provided an average of 39% of education and recruitment variables. While most programs provided fellowship program descriptions (96%), application links (96%), and faculty listings (83%), relatively few provided rotation schedules (13%), fellow selection process information (13%), or interview dates (8%). CSFW content did not vary by program location, faculty size, accreditation status, or institutional affiliations (P > 0.05). Craniofacial surgery fellowships often lack readily accessible websites from national program lists and have limited information for interested applicants. The consistent lack of online information across programs suggests future opportunities exist to improve these educational resources.

  10. Kidney Dysplasia

    Science.gov (United States)

    ... whose mothers used certain prescription medications or illegal drugs during pregnancy What are the signs of kidney dysplasia? Many ... the use of certain prescription medications or illegal drugs during pregnancy. Pregnant women should talk with their health care ...

  11. Fibrous metaphyseal defects

    International Nuclear Information System (INIS)

    Ritschl, P.; Hajek, P.C.; Pechmann, U.

    1989-01-01

    Sixteen patients with fibrous metaphyseal defects were examined with both plain radiography and magnetic resonance (MR) imaging. Depending on the age of the fibrous metaphyseal defects, characteristic radiomorphologic changes were found which correlated well with MR images. Following intravenous Gadolinium-DTPA injection, fibrous metaphyseal defects invariably exhibited a hyperintense border and signal enhancement. (orig./GDG)

  12. Bioactive Nano-fibrous Scaffold for Vascularized Craniofacial Bone Regeneration

    DEFF Research Database (Denmark)

    Prabha, Rahul Damodaran; Kraft, David Christian Evar; Harkness, Linda

    2018-01-01

    the limitation of cell penetration of electrospun scaffolds and improve on its osteoconductive nature, in this study, we fabricated a novel electrospun composite scaffold of polyvinyl alcohol (PVA) - poly (ε) caprolactone (PCL) - Bioceramic (HAB), namely, PVA-PCL-HAB. The scaffold prepared by dual...... electrospinning of PVA and PCL with HAB overcomes reduced cell attachment associated with hydrophobic poly (ε) caprolactone (PCL) by combination with a hydrophilic polyvinyl alcohol (PVA) and the bioceramic (HAB) can contribute to enhance osteo-conductivity. We characterized the physicochemical...... and biocompatibility properties of the new scaffold material. Our results indicate PVA-PCL-HAB scaffolds support attachment and growth of stromal stem cells; (human bone marrow skeletal (mesenchymal) stem cells (hMSC) and dental pulp stem cells (DPSC)). In addition, the scaffold supported in vitro osteogenic...

  13. Ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Sonia Saggoo

    2009-01-01

    Full Text Available Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an X-linked recessive mendelian character which is rarely seen in males. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Patients with this disorder exhibit smooth , thin and dry skin, fine and blond scanty hair. Intra-orally anodontia or hypodontia, with impaired development of alveolar process is seen. A case report of a rare case of this disorder in a female patient aged 18 years is hereby presented.

  14. Sponastrime dysplasia

    International Nuclear Information System (INIS)

    Lachman, R.S.; California Univ., Los Angeles, Torrance, CA; Stoss, H.; Spranger, J.

    1989-01-01

    The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.)

  15. 3-D analysis of tooth formation and eruption in patients with craniofacial anomalies

    DEFF Research Database (Denmark)

    Kreiborg, Sven; Larsen, Per; Bro-Nielsen, Morten

    1996-01-01

    A number of craniofacial anomalies or syndromes involve severe disturbances of tooth formation and eruption (e.g. Apert syndrome, Crouzon syndrome, tricho-dento-osseous syndrome, cleidocranial dysplasia, and cleft lip and palate). So far, studies of these dental problems have been limited to two...

  16. Pseudoachondroplastic dysplasia.

    Directory of Open Access Journals (Sweden)

    Khungar A

    1993-04-01

    Full Text Available Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. A review of literature is also presented.

  17. Frontofacionasal Dysplasia

    African Journals Online (AJOL)

    rme

    226. Frontofacionasal Dysplasia: Another Observation eye. Other ocular features include small eyes, iris colobomas and cataracts. A frontally situated lipoma, causing a swelling at the nasion, was reported in one patient and an encephalocele has been described.3. Mental retardation has been reported in one patient with.

  18. Genetics Home Reference: craniofacial microsomia

    Science.gov (United States)

    ... the first and second pharyngeal arches (also called branchial or visceral arches). Tissue layers in the six ... dysplasia CFM facioauriculovertebral dysplasia FAV first and second branchial arch syndrome first and second pharyngeal arch syndromes ...

  19. Mondini dysplasia

    International Nuclear Information System (INIS)

    Takeda, Taizo; Kakigi, Akinobu; Takeuchi, Shunji; Saito, Haruo

    1992-01-01

    Recent advances in imaging technique, including high resolution thin section computed tomography scanning and magnetic resonance imaging (MRI), permit the easy diagnosis of congenital malformations of the osseous labyrinth, which have so far been lumped together as 'Mondini dysplasia'. In the present study, the anatomic patterns from the radiogrpahic appearance and the clinical manifestation were examined in 18 patients (23 ears) with radiographic abnormalities of the inner ear. The most common abnormal configuration was a large vestibule (20 of 23 ears). This anomaly of the vestibule often involved the lateral semicircular canal, revealed as a round high signal zone on T2-weighted MRI. However, a large vestibule was not always associated with an abnormal cochlea. Abnormal cochleas were found in 8 of the 20 ears with a large vestibule, and most of these 8 ears had total or profound deafness. But 4 of the 10 ears with residual hearing had low tone deafness and 6 had fluctuating hearing loss, which was frequently associated with attacks of dizziness. These clinical manifestations of Mondini dysplasia are similar to those of patients with endolymphatic hydrops. (author)

  20. Idiosyncratic Presentation of Cemento-Osseous Dysplasia – An in Depth Analysis Using Cone Beam Computed Tomography

    OpenAIRE

    Chennoju, Sai Kiran; Pachigolla, Ramaswamy; Govada, Vanya Mahitha; Alapati, Satish; Balla, Smitha

    2016-01-01

    Bone dysplasias comprise of a condition where the normal bone is replaced with fibrous tissue. Periapical Cemento-Osseous Dysplasia (PCOD) is a benign fibro-osseous condition where bone tissue is supplanted with fibrous tissue and cementum-like material. This condition affects mostly mandibular anterior region and rarely occurs in the maxilla. PCOD is seen above 30 years of age and has slight female predilection. Generally the teeth related to such lesions appear to be vital and are usually a...

  1. Osseous Dysplasia Accompanied by a Complex Odontoma in the Mandible

    Directory of Open Access Journals (Sweden)

    N Jafari

    2017-05-01

    Full Text Available Introduction: Cement osseous dysplasia is the most common lesion of the family fibrous dysplasia which normal bone is replaced with fibrous tissue and several mineralized material. These lesions may be seen in association with various lesions. Companionship of this lesion with odontoma has been reported rarely. Case report: A 44-year-old female in one year ago has admitted to Shahid Sadoughi Faculty of Dentistry Yazd for treatment of mandibular left third molar. In panoramic radiography in the mandibular left first molar region, a mixed lesion of radiolucent-radiopaque with a corticated borderwas seen. Small swelling was observed in this area. Microscopically, the diagnosis of osseous dysplasia with odontoma for the lesion was confirmed. Conclusion: The reason of companionship of cement osseous lesions whit other lesions is not completely clear and it requires further evaluation.

  2. Craniofacial Pain: Brainstem Mechanisms

    Directory of Open Access Journals (Sweden)

    Barry J Sessle

    1996-01-01

    Full Text Available This article reviews recent research advances in animals that have identified critical neural elements in the brainstem receiving and transmitting craniofacial nociceptive inputs, as well as some of the mechanisms involved in the modulation and plasticity of nociceptive transmission. Nociceptive neurones in the trigeminal (V brainstem sensory nuclear complex can be classified as nociceptive-specific (NS or wide dynamic range (WDR. Some of these neurones respond exclusively to sensory inputs evoked by stimulation of facial skin or oral mucosa and have features suggesting that they are critical neural elements involved in the ability to localize an acute superficial pain and sense its intensity and duration. Many of the V brainstem nociceptive neurones, however, receive convergent inputs from afferents supplying deep craniofacial tissues (eg, dural vessel, muscle and skin or mucosa. These neurones are likely involved in deep pain, including headache, because few nociceptive neurones receive inputs exclusively from afferents supplying these tissues. These extensive convergent input patterns also appear to be important factors in pain spread and referral, and in central mechanisms underlying neuroplastic changes in V neuronal properties that may occur with injury and inflammation. For example, application of the small fibre excitant and inflammatory irritant mustard oil into the temporomandibular joint, masseter or tongue musculature induces a prolonged but reversible enhancement of responses to cutaneous and deep afferent inputs of most WDR and NS neurones. These effects may be accompanied by increased electromyographic activity reflexly induced in the masticatory muscles by mustard oil, and involve endogenous N-methyl-D-aspartate and opioid neurochemical mechanisms. Such peripherally induced modulation of brainstem nociceptive neuronal properties reflects the functional plasticity of the central V system, and may be involved in the development of

  3. Dental approach to craniofacial syndromes

    DEFF Research Database (Denmark)

    Kjær, Inger

    2012-01-01

    is essential for insight into craniofacial syndromes. The dentition, thus, becomes central in diagnostics and evaluation of the pathogenesis. Developmental fields can explore and advance the concept of dental approaches to craniofacial syndromes. Discussion. As deviations in teeth persist and do not reorganize...

  4. McCune-Albright syndrome: evaluation of craniofacial involvement through magnetic resonance images

    International Nuclear Information System (INIS)

    Poma, A.; Baganz, M.; Gutierrez, G.

    1999-01-01

    We report the case of a male teenager with the classical clinical picture of McCune-Albright syndrome, with precocious puberty, cafe-au-lait spots, polyostotic fibrous dysplasia and gigantism. Magnetic resonance images are described and a review of the perspective literature is also presented. (authors)

  5. The Diagnostic importance of clinical and radiologic features of the Multiple Cemento-osseous dysplasia

    International Nuclear Information System (INIS)

    Han, M. R.; Kim, Y. H.; Kang, B. C.

    1998-01-01

    This case was diagnosed as multiple cementoosseous dysplasia on the basis of clinical and radiological features but was diagnosed as ossifying fibroma on the basis of histopathological feature. The histopathologic features of the multiple cementoosseous dysplasia and cementoossifying fibroma have common features of cementum, fibrous network and bone. Multiple cementoosseous dysplasia is reactive lesion and shows restricted lesion size, occurred on anterior and posterior tooth of the mandible and needs no treatment except periodic follow up. But Cementoossifying fibroma is the true neoplasm and grows continuously and needs surgical removal. The final diagnosis of the multiple cementoosseous dysplasia requires good correlation of the clinical histopathological, and radiological features.

  6. Strength of Fibrous Composites

    CERN Document Server

    Huang, Zheng-Ming

    2012-01-01

    "Strength of Fibrous Composites" addresses evaluation of the strength of a fibrous composite by using its constituent material properties and its fiber architecture parameters. Having gone through the book, a reader is able to predict the progressive failure behavior and ultimate strength of a fibrous laminate subjected to an arbitrary load condition in terms of the constituent fiber and matrix properties, as well as fiber geometric parameters. The book is useful to researchers and engineers working on design and analysis for composite materials. Dr. Zheng-Ming Huang is a professor at the School of Aerospace Engineering & Applied Mechanics, Tongji University, China. Mr. Ye-Xin Zhou is a PhD candidate at the Department of Mechanical Engineering, the University of Hong Kong, China.

  7. Oculodentodigital dysplasia

    Directory of Open Access Journals (Sweden)

    Dharmil C Doshi

    2016-01-01

    Full Text Available Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo, teeth (dento, and fingers and/or toes (digital. The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood.

  8. Craniofacial duplication (diprosopus).

    Science.gov (United States)

    Turpin, I M; Furnas, D W; Amlie, R N

    1981-02-01

    No congenital malformation in infants is more profound than anterior craniofacial duplication. The precise term for this rare anomaly is diprosopus, referring to a fetus with a single trunk, normal limbs, and varying degrees of facial duplication. A search of the world literature produced only 16 cases of diprosopus since 1864. Despite the rarity of this anomaly, three such infants were born in the Southern California area during the past year, making this the largest reported series to date. The three infants were born with two distinctly formed faces. Each had four separate eyes, two mouths, two noses, and two ears with a primitive ear or sinus tract at the plane of fusion. In addition, multiple congenital aberrations existed which involved a variety of internal organs. The pathogenesis of diprosopus is not well understood, but environmental stress early in embryologic development has been suggested as a possible factor. The apparent mechanism is a slowing of pregastrulation oxidation with resultant focal developmental arrests.

  9. Spondylometaphyseal dysplasia with hypercalcemia

    International Nuclear Information System (INIS)

    Bagga, A.; Srivastava, R.N.; Gupta, S.; Gupta, A.

    1989-01-01

    Kozlowski's spondylometaphyseal dysplasia is characterised by short-trunk dwarfism, platyspondyly, metaphyseal dysplasia and retarded bone age. We report an association of this syndrome with asymptomatic, hypocalciuric hypercalcemia, a previously undocumented finding. (orig.)

  10. Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud's syndrome

    International Nuclear Information System (INIS)

    Lassance Cabral, C.E.; Guedes, P.; Celso Cruz, L. Jr.; Smith, J.; Rezende, J.F.

    1998-01-01

    Mazabraud's syndrome, though uncommon, is reported increasingly frequently. It represents an entity readily recognisable radiologically on MR imaging. Awareness of the syndrome, particularly when the myxoma is solitary, can prevent misdiagnosis of intramuscular myxomas (especially when large) as malignant mesenchymal tumors containing myxoid tissue. We review the 34 cases previously reported in the literature and include a recent case from our center. (orig.)

  11. fibrous dysplasia of the maxilla with a method for preventing ...

    African Journals Online (AJOL)

    and which are not associated with the development of the teeth are usually ... of material at his disposal. Several cases in the ... serum alkaline phosphatase 45 units (B); Wassermann reaction negative. ... cavity, the skin and mucosa were sutured over the ball. The face ... to fit a prosthesis attached to the upper dental plate.

  12. Fibrous monolithic ceramics

    International Nuclear Information System (INIS)

    Kovar, D.; King, B.H.; Trice, R.W.; Halloran, J.W.

    1997-01-01

    Fibrous monolithic ceramics are an example of a laminate in which a controlled, three-dimensional structure has been introduced on a submillimeter scale. This unique structure allows this all-ceramic material to fail in a nonbrittle manner. Materials have been fabricated and tested with a variety of architectures. The influence on mechanical properties at room temperature and at high temperature of the structure of the constituent phases and the architecture in which they are arranged are discussed. The elastic properties of these materials can be effectively predicted using existing models. These models also can be extended to predict the strength of fibrous monoliths with an arbitrary orientation and architecture. However, the mechanisms that govern the energy absorption capacity of fibrous monoliths are unique, and experimental results do not follow existing models. Energy dissipation occurs through two dominant mechanisms--delamination of the weak interphases and then frictional sliding after cracking occurs. The properties of the constituent phases that maximize energy absorption are discussed. In this article, the authors examine the structure of Si 3 N 4 -BN fibrous monoliths from the submillimeter scale of the crack-deflecting cell-cell boundary features to the nanometer scale of the BN cell boundaries

  13. Gastric Calcifying Fibrous Tumour

    Directory of Open Access Journals (Sweden)

    Tan Attila

    2006-01-01

    Full Text Available Intramucosal gastric tumours are most commonly found to be gastrointestinal stromal tumours or leiomyomas (smooth muscle tumours; however, a variety of other uncommon mesenchymal tumours can occur in the stomach wall. A rare benign calcifying fibrous tumour is reported and the endoscopic appearance, ultrasound findings and morphology are documented. A review of the literature found only two similar cases.

  14. Asphyxiating thoracic dysplasia

    International Nuclear Information System (INIS)

    Franzcr, J.; Kozlowski, K.

    2008-01-01

    Asphyxiating Thoracic Dysplasia is the most frequent form of Small Thorax - Short Rib Syndromes. Asphyxiating Thoracic Dysplasia in two patients with different clinical course is reported. Radiographic examination is the only method to diagnose Asphyxiating Thoracic Dysplasia with certainty. The correct diagnosis is important for prognostication and genetic counseling. It also excludes the necessity of further, often expensive investigations. (author)

  15. An atypical case of craniometaphyseal dysplasia. Case report and surgical treatment.

    Science.gov (United States)

    Novelli, Giorgio; Ardito, Emanuela; Mazzoleni, Fabio; Bozzetti, Alberto; Sozzi, Davide

    2017-01-01

    Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony overgrowth of the facial and skull bones. Craniometaphyseal dysplasia occurs in an autosomal dominant (AD) and an autosomal recessive (AR) form. We present a 32-year-old patient arrived at our unit in May 2009. His main discomfort was a major limitation of the mouth opening, in the context of a craniofacial deformity. Relying on patient's medical history and the performed diagnostic tests, the diagnosis of craniometaphyseal dysplasia was made. After careful evaluation of the clinical case, in accordance with the requirements of the patient, we opted for a surgical treatment aimed at correction of functional limitation of temporomandibular joint and aesthetic improvement of the facial bones. The stability of the clinical results led us to suggest and to undertake the surgical path, also due to the lack of safe and consolidated non-surgical treatments for the specific case.

  16. Fibromuscular dysplasia

    Directory of Open Access Journals (Sweden)

    Jeunemaitre Xavier

    2007-06-01

    Full Text Available Abstract Fibromuscular dysplasia (FMD, formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that. Histological classification discriminates three main subtypes, intimal, medial and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string-of-beads' appearance that is related to medial FMD, and tubular and focal types, which are not clearly related to specific histological lesions. Renovascular hypertension is the most common manifestation of renal artery FMD. Multifocal stenoses with the 'string-of-beads' appearance are observed at angiography in more than 80% of cases, mostly in women aged between 30 and 50 years; they generally involve the middle and distal two-thirds of the main renal artery and in some case also renal artery branches. Cervicocranial FMD can be complicated by dissection with headache, Horner's syndrome or stroke, or can be associated with intracerebral aneurysms with a risk of subarachnoid or intracerebral hemorrhage. The etiology of FMD is unknown, although various hormonal and mechanical factors have been suggested. Subclinical lesions are found at arterial sites distant from the stenotic arteries, and this suggests that FMD is a systemic arterial disease. It appears to be familial in 10% of cases. Noninvasive diagnostic tests include, in increasing order of accuracy, ultrasonography, magnetic resonance angiography and computed tomography angiography. The gold standard for diagnosing FMD is catheter angiography, but this invasive procedure is only used for patients in whom it is clinically pertinent to proceed with revascularization during the same procedure. Differential diagnosis include

  17. Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

    International Nuclear Information System (INIS)

    Agarwal, Prachi Pragya; Srinivasan, Ashok; Sharma, Raju; Gupta, Arun Kumar; Kabra, Madhulika

    2003-01-01

    A rare case of spondylo-megaepiphyseal-metaphyseal dysplasia is reported in a 10-year-old boy. The features were metaphyseal dysplasia, markedly defective ossification of vertebral body centres and enlarged epiphyses. Although it shares some features with spondylo-metaphyseal dysplasia, oto-spondylo-megaepiphyseal dysplasia and cleidocranial dysplasia, the presence of several unusual radiological findings sets it apart. (orig.)

  18. Angiomatoid fibrous histiocytoma

    Directory of Open Access Journals (Sweden)

    Sunil Yogiraj Swami

    2016-01-01

    Full Text Available Angiomatoid fibrous histiocytoma[AFH] is a rare soft tissue tumour most commonly occurring in children, adolescents, and young adults. It is considered to be a tumour of intermediate malignancy because of its less aggressive course in contrast to conventional malignant fibrous histiocytoma[MFH]. It accounts for approximately 0.3% of soft-tissue neoplasms. The majority of cases occur in the extremities, are slow growing and are typically painless. We report a case of AFH on the scalp of a 40-year old man, locally recurring within two years of the original operation. AFH is a rare condition with the potential of local recurrence and metastasis. It should be considered in the differential diagnosis of a soft tissue mass in a child or adolescent.

  19. Craniofacial Reconstruction Evaluation by Geodesic Network

    OpenAIRE

    Zhao, Junli; Liu, Cuiting; Wu, Zhongke; Duan, Fuqing; Wang, Kang; Jia, Taorui; Liu, Quansheng

    2014-01-01

    Craniofacial reconstruction is to estimate an individual’s face model from its skull. It has a widespread application in forensic medicine, archeology, medical cosmetic surgery, and so forth. However, little attention is paid to the evaluation of craniofacial reconstruction. This paper proposes an objective method to evaluate globally and locally the reconstructed craniofacial faces based on the geodesic network. Firstly, the geodesic networks of the reconstructed craniofacial face and the or...

  20. Pediatric considerations in craniofacial trauma.

    Science.gov (United States)

    Koch, Bernadette L

    2014-08-01

    In many respects, craniofacial trauma in children is akin to that in adults. The appearance of fractures and associated injuries is frequently similar. However, the frequencies of different types of fractures and patterns of injury in younger children vary depending on the age of the child. In addition, there are unique aspects that must be considered when imaging the posttraumatic pediatric face. Some of these are based on normal growth and development of the skull base and craniofacial structures, and others on the varying etiologies and mechanisms of craniofacial injury in children, such as injuries related to toppled furniture, nonaccidental trauma, all-terrain vehicle accidents, and impalement injuries. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. Craniofacial duplication: a case report.

    Science.gov (United States)

    Suryawanshi, Pradeep; Deshpande, Mandar; Verma, Nitin; Mahendrakar, Vivek; Mahendrakar, Sandhya

    2013-09-01

    A craniofacial duplication or diprosopus is an unusual variant of conjoined twinning. The reported incidence is one in 180,000-15 million births and 35 cases have been reported till date. The phenotype is wide, with the partial duplication of a few facial structures to complete dicephalus. A complete duplication is associated with a high incidence of anomalies in the central nervous system, cardiovascular system, gastrointestinal system and the respiratory system, whereas no major anomalies are found in the infants with a partial duplication. A term baby with the features of a craniofacial duplication has been described, with the proposed theories on embryogenesis and a brief review of the literature.

  2. Genetics Home Reference: boomerang dysplasia

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Boomerang dysplasia Boomerang dysplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Boomerang dysplasia is a disorder that affects the development ...

  3. Progressive pseudorheumatoid dysplasia misdiagnosed as ...

    African Journals Online (AJOL)

    Progressive pseudorheumatoid dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis. Ozgur Taspinar, Fatih Kelesoglu, Yasar Keskin, Murat Uludag. Abstract. Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo- epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile ...

  4. TREATMENT OF HIP DYSPLASIA

    OpenAIRE

    Iulian ICLEANU; Mariana CORDUN

    2015-01-01

    In this thesis, our purpose is to show that using physiotherapy on patients with hip dysplasia from the very beginning, in the first months of life, helps treating them faster. Common literature proposes to use physiotherapy on patients with hip dysplasia either after their recovery or in the terminal phase of recovery, claiming that any earlier intervention will prolong the hip recovery. The effects of hip dysplasia reflect over the whole musculoskeletal system, while it hinders the knees (g...

  5. Spondyloepiphyseal dysplasia congenita

    International Nuclear Information System (INIS)

    Macpherson, R.I.; Wood, B.P.

    1980-01-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed. (orig.) [de

  6. Genetics Home Reference: osteoglophonic dysplasia

    Science.gov (United States)

    ... 1 link) Genetic Testing Registry: Osteoglophonic dysplasia Other Diagnosis and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...

  7. Craniofacial morphology in Muenke syndrome

    DEFF Research Database (Denmark)

    Keller, Mette Kirstine; Hermann, Nuno V; Darvann, Tron A

    2007-01-01

    corresponding to bone was created for each individual. The sutures were inspected for synostosis, and the degree of synostosis was assessed. Increased digital markings were recorded for both groups. Craniofacial morphology was assessed quantitatively using bony landmarks and recording of the midsagittal surface...

  8. Florid osseous dysplasia of the jaws

    International Nuclear Information System (INIS)

    Cho, Su Beom; Koh, Kwang Joon

    1995-01-01

    Few cases of florid osseous dysplasia has been described as a condition that characteristically affects the jaws. It usually manifests as multiple radiopaque masses distributed throughout the jaws. Confusion exists about the relationship of florid osseous dysplasia, gigantiform cementoma, chronic sclerosing osteomyelitis, sclerosing osteitis or multiple enostosis. Authors experienced a case of florid osseous dysplasia of the jaws in 52-year-old female on the basis of clinical, radiographic and histopathologic findings. The characteristic features are as follows: 1. In clinical examination, there was no clinical sign and symptoms except extrated area. And there was no facial asymmetry. 2. Radiograms show round or lobular dense radiopaque masses surrounded by radiolucent bands in lower molar teeth area bilaterally. And slight increased radiopacities in maxillary molar teeth area bilaterllay. There was no expansion or thinning of buccal and lingual cortical bones. There is no displacement or resorption of involved teeth. In right side of mandible, mandibular canal is displaced inferiorly due to mass. 3. Photomicrograms show densely mineralized sclerotic acellular masses with empty lacunae. Pattern is suggestive of cementum, although it could be considered sclerotic bone. In the periphery, lesion consisting of moderately cellular fibrous tissue in calcified products are deposited.

  9. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean Population.

    Directory of Open Access Journals (Sweden)

    Eun Jin Woo

    Full Text Available Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.

  10. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.

    Science.gov (United States)

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.

  11. Fibrous metaphyseal defects

    International Nuclear Information System (INIS)

    Hajek, P.C.; Ritschi, P.; Kramer, J.; Imhof, H.; Karnel, F.

    1988-01-01

    Eighty-two patients (107 fibrous metaphyseal defects [FMDs]) were investigated with standard radiography and MR imaging (N = 15). Twenty-two of these were followed up sequentially up to 10 years (mean, 7.3 years). Histologic studies proved that FMDs originate at the site of insertion of a tendon in the perichondrium of the epiphyseal cartilage. After normal bone growth is regained, all FMDs were found to move diaphysically, following a straight line parallel to the long axis of the FMDs. This line pointed to the insertion of the tendon originally involved, a fact that was proved with MR imaging. Four characteristic stages were found to define a typical radiomorphologic course of an FMD

  12. Midline Craniofacial Masses in Children

    OpenAIRE

    Van Wyhe, Renae D.; Chamata, Edward S.; Hollier, Larry H.

    2016-01-01

    Nasal dermoids, encephaloceles, and gliomas are rare congenital lesions that result from improper embryologic development. The differentiation between them and a firm understanding of their pathology is necessary to avoid unnecessary complications. In view of their potential intracranial connection, prompt diagnosis and treatment are paramount. The authors review the embryology, diagnoses, radiologic work-up, surgical management, and complications of these midline craniofacial masses in child...

  13. Toward characterization of craniofacial biomechanics.

    Science.gov (United States)

    Szwedowski, Tomasz D; Whyne, Cari M; Fialkov, Jeffrey A

    2010-01-01

    Surgical reconstruction of craniofacial deformities has advanced significantly in recent years. However, unlike orthopedic surgery of the appendicular skeleton, the biomechanical characterization of the human craniofacial skeleton (CFS) has yet to be elucidated. Attempts to simplify facial skeletal structure into straightforward mechanical device analogies have been insufficient in delineating craniofacial biomechanics. Advanced computational engineering analysis methods offer the potential to accurately and completely define the internal mechanical environment of the CFS. This study developed a finite element (FE) model in the I-deas 10 FEM software package of a preserved cadaveric human CFS and compared the predictions of this model against in vitro strain measurement of simulated occlusal loading forces from a single masseter muscle. The FE model applied shell element modeling to capture the behavior of the thin cortical bone that may play an important role in stabilizing the facial structures against functional loads. In vitro testing included strain measurements at 12 locations for a total of 16 independent channels with less than 150 N of tensile force applied through the masseter muscle into the zygomatic arch origin at 4 different orientations, with 3 trials of 500 recorded data points for each loading orientation. Linear regression analysis yielded a moderate prediction (r = 0.57) between the model and experimentally measured strains. Exclusion of strain comparisons in regions that required greater modeling assumptions greatly improved the correlation (r = 0.70). Future validation studies will benefit from improved placement of strain gauges as guided by FE model predicted strain patterns.

  14. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

    A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

  15. Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

    Science.gov (United States)

    Izumi, Kosuke; Lippa, Andrew M; Wilkens, Alisha; Feret, Holly A; McDonald-McGinn, Donna M; Zackai, Elaine H

    2013-12-01

    Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4-5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4-5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations. © 2013 Wiley Periodicals, Inc.

  16. Gracile bone dysplasias

    International Nuclear Information System (INIS)

    Kozlowski, Kazimierz; Masel, John; Sillence, David O.; Arbuckle, Susan; Juttnerova, Vera

    2002-01-01

    Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)

  17. Ectodermal dysplasia (ED) syndrome.

    Science.gov (United States)

    Chee, Siew-Yin; Wanga, Chung-Hsing; Lina, Wei-De; Tsaia, Fuu-Jen

    2014-01-01

    Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.

  18. Gracile bone dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, Kazimierz [Department of Medical Imaging, The Children' s Hospital at Westmead, Locked Bag 4001, Westmead 2145, NSW (Australia); Masel, John [Department of Radiology, Royal Children' s Hospital, Brisbane (Australia); Sillence, David O. [Department of Paediatrics and Child Health, The University of Sydney (Australia); Arbuckle, Susan [Department of Anatomical Pathology, The Children' s Hospital at Westmead, NSW (Australia); Juttnerova, Vera [Oddeleni Lekarske Genetiky, Hradec Kralove (Czech Republic)

    2002-09-01

    Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)

  19. Mandibulo-acral dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Hoeffel, J.C.; Mainard, L. [Dept. of Radiology, Children' s Hospital, Vandoeuvre (France); Chastagner, P. [Dept. of Medicine, Children' s Hospital, Vandoeuvre (France); Hoeffel, C.C. [UFR Faculte de Medecine Cochin, Paris (France)

    2000-11-01

    We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual. (orig.)

  20. Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review

    Directory of Open Access Journals (Sweden)

    Kye Won Park

    2017-09-01

    Full Text Available Oculodentodigital dysplasia (ODDD is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.

  1. Why fibrous proteins are romantic.

    Science.gov (United States)

    Cohen, C

    1998-01-01

    Here I give a personal account of the great history of fibrous protein structure. I describe how Astbury first recognized the essential simplicity of fibrous proteins and their paradigmatic role in protein structure. The poor diffraction patterns yielded by these proteins were then deciphered by Pauling, Crick, Ramachandran and others (in part by model building) to reveal alpha-helical coiled coils, beta-sheets, and the collagen triple helical coiled coil-all characterized by different local sequence periodicities. Longer-range sequence periodicities (or "magic numbers") present in diverse fibrous proteins, such as collagen, tropomyosin, paramyosin, myosin, and were then shown to account for the characteristic axial repeats observed in filaments of these proteins. More recently, analysis of fibrous protein structure has been extended in many cases to atomic resolution, and some systems, such as "leucine zippers," are providing a deeper understanding of protein design than similar studies of globular proteins. In the last sections, I provide some dramatic examples of fibrous protein dynamics. One example is the so-called "spring-loaded" mechanism for viral fusion by the hemagglutinin protein of influenza. Another is the possible conformational changes in prion proteins, implicated in "mad cow disease," which may be related to similar transitions in a variety of globular and fibrous proteins. Copyright 1998 Academic Press.

  2. Florid Cementoosseous Dysplasia: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Mehmet Fatih Şentürk

    2013-01-01

    Full Text Available Florid cementoosseous dysplasia (FCOD is a rare, benign, fibroosseous, and multifocal dysplastic lesion of the jaw that consists of cellular fibrous connective tissue with bone and cementum-like tissue. FCOD is most commonly found in middle-aged black women, is generally asymptomatic, and is usually detected during radiological examination. FCOD associated with multiple impacted teeth and bone expansion is a very rare phenomenon, and there are only a few familial cases reported in the literature. In this report, a 35-year-old male Turkish patient is presented who was diagnosed with nonfamilial FCOD from clinical, radiological, and histopathological findings. To our knowledge this is the first case of the nonfamilial FCOD with this many impacted teeth and severely expanded bones.

  3. Biomaterials and biologics in craniofacial reconstruction.

    Science.gov (United States)

    Engstrand, Thomas

    2012-01-01

    Complications related to surgery, including infection, wound dehiscence, and implant protrusion, are costly and may cause severe morbidity to patients. The choice of implants materials is critical for a successful outcome, particularly in craniofacial reconstructions. This review discusses the potential benefits and drawbacks of biologically active materials used for craniofacial bone repair as alternatives to inert implant prostheses.

  4. Cloverleaf skull with generalised bone dysplasia

    International Nuclear Information System (INIS)

    Kozlowski, K.; Warren, P.S.; Fisher, C.C.; Royal Hospital for Women, Camperdown

    1985-01-01

    A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished. (orig.)

  5. Genetics Home Reference: thanatophoric dysplasia

    Science.gov (United States)

    ... thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A( ... of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...

  6. TREATMENT OF HIP DYSPLASIA

    Directory of Open Access Journals (Sweden)

    Iulian ICLEANU

    2015-11-01

    Full Text Available In this thesis, our purpose is to show that using physiotherapy on patients with hip dysplasia from the very beginning, in the first months of life, helps treating them faster. Common literature proposes to use physiotherapy on patients with hip dysplasia either after their recovery or in the terminal phase of recovery, claiming that any earlier intervention will prolong the hip recovery. The effects of hip dysplasia reflect over the whole musculoskeletal system, while it hinders the knees (genu valgum, the ankles (ankle valgus, calcaneal valgus and the spine (scoliosis especially at the lumbar level. The most spectacular are at the hip level, that is why we made an analytical evaluation only for this joint. To show the importance of physiotherapy for children with hip dysplasia we started from the hypothesis: untimely treatment for children with hip dysplasia has improved results in functional recovery and in obtaining a better stability, without the necessity of orthopedics or surgical interventions. The research methods used in this study are: the observation method, the bibliographic study method, the experimental method, the graphics method and the statistical mathematical method to process the data and to represent the results graphically. In the end, the results obtained are significantly different from the initial evaluations and we came to the conclusion that starting an untimely analytical kinetic treatment and globally personalizing it to every patient improves stability and biomechanical parameters for the hip.

  7. Prenatal diagnosis of boomerang dysplasia.

    Science.gov (United States)

    Wessels, Marja W; Den Hollander, Nicolette S; De Krijger, Ronald R; Bonifé, Luisa; Superti-Furga, Andrea; Nikkels, Peter G; Willems, Patrick J

    2003-10-01

    Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound. Copyright 2003 Wiley-Liss, Inc.

  8. Cerebral infarction attributable to cerebrovascular fibromuscular dysplasia

    International Nuclear Information System (INIS)

    Shimazaki, Haruo

    2008-01-01

    Fibromuscular dysplasia (FMD) is a noninflammatory, nonatheromatous segmental angiopathy. The renal arteries are affected most commonly, followed by the internal carotid and vertebral arteries. FMD of the internal carotid and vertebral arteries usually occurs in the extracranial portions and is mostly observed at the level of the second cervical vertebra. FMD of the intracranial arteries is rare, but tends to occur in children and young adults. FMD is more common in females than in males, and it is often observed in middle-aged women. Although the etiology of FMD is not well understood, several mechanisms have been proposed, such as genetic predisposition, hormonal factors, and arterial wall ischemia. The pathology of FMD is characterized by smooth muscle hyperplasia or thinning, elastic fiber destruction, fibrous tissue proliferation, and arterial wall disorganization. Cerebrovascular fibromuscular dysplasia (cFMD) is relatively rare in Japan but is regarded as one of the cardinal causes of stroke in the younger population. cFMD without complications causes nonspecific symptoms such as headache or vertigo, but when it results in an arterial dissection or aneurysm, it leads to cerebral infarction or subarachnoid hemorrhage. Conventional angiographic findings mostly reveal a pattern called the 'string of beads', which is pathologically correlated to medial fibromuscular dysplasia. Doppler echography, computed tomography and magnetic resonance angiography (MRA) may be useful for detecting cFMD lesions in some cases. MRA should be performed to rule out the presence of intracranial aneurysms. Antiplatelet and anticoagulation agents are prophylactics against cFMD complications. Surgical treatments such as graduated intraluminal dilatation had previously been the mainstays for treating cFMD. Percutaneous transluminal angioplasty with or without stenting has now become the preferred invasive treatment for symptomatic cFMD. (author)

  9. Concurrence of metaphyseal fibrous defect and osteosarcoma

    International Nuclear Information System (INIS)

    Kyriakos, M.; Murphy, W.A.

    1981-01-01

    The case of a 15-year-old girl with juxtaposition of a femoral metaphyseal fibrous defect (fibrous cortical defect) and an osteosarcoma is reported. Despite the relatively common occurrence of metaphyseal fibrous defects, their reported association with other bone tumors is exceedingly rare. Only two previous acceptable examples of this association were found. Reports of malignant transformation of metaphyseal fibrous defect were reviewed and rejected because they lacked convincing radiologic or histopathologic evidence of a pre-existent benign fibrous lesion. The finding of a malignant bone tumor in association with a metaphyseal fibrous defect appears to be a chance occurrence. (orig.)

  10. Meyer's dysplasia epiphysealis

    International Nuclear Information System (INIS)

    Toro P, Alvaro de Jesus; Lopez C, Meisser A

    2005-01-01

    The skeletal dysplasias are a group of heterogeneous conditions since the clinical and genetic point of view, that to date they are about 200 different disorders. They have as common denominator an inconvenience of the normal process of growth and development of the bony weaving and their cartilaginous precursors. In this article the case of an adolescent of 16 years is presented with Meyer's dysplasia epiphysealis whose diagnostic was delayed and that as opposed to the cases reported in the literature required surgical treatment due to the persistent symptoms, and the literature is reviewed

  11. Craniofacial imaging informatics and technology development.

    Science.gov (United States)

    Vannier, M W

    2003-01-01

    'Craniofacial imaging informatics' refers to image and related scientific data from the dentomaxillofacial complex, and application of 'informatics techniques' (derived from disciplines such as applied mathematics, computer science and statistics) to understand and organize the information associated with the data. Major trends in information technology determine the progress made in craniofacial imaging and informatics. These trends include industry consolidation, disruptive technologies, Moore's law, electronic atlases and on-line databases. Each of these trends is explained and documented, relative to their influence on craniofacial imaging. Craniofacial imaging is influenced by major trends that affect all medical imaging and related informatics applications. The introduction of cone beam craniofacial computed tomography scanners is an example of a disruptive technology entering the field. An important opportunity lies in the integration of biologic knowledge repositories with craniofacial images. The progress of craniofacial imaging will continue subject to limitations imposed by the underlying technologies, especially imaging informatics. Disruptive technologies will play a major role in the evolution of this field.

  12. Msx homeobox gene family and craniofacial development.

    Science.gov (United States)

    Alappat, Sylvia; Zhang, Zun Yi; Chen, Yi Ping

    2003-12-01

    Vertebrate Msx genes are unlinked, homeobox-containing genes that bear homology to the Drosophila muscle segment homeobox gene. These genes are expressed at multiple sites of tissue-tissue interactions during vertebrate embryonic development. Inductive interactions mediated by the Msx genes are essential for normal craniofacial, limb and ectodermal organ morphogenesis, and are also essential to survival in mice, as manifested by the phenotypic abnormalities shown in knockout mice and in humans. This review summarizes studies on the expression, regulation, and functional analysis of Msx genes that bear relevance to craniofacial development in humans and mice. Key words: Msx genes, craniofacial, tooth, cleft palate, suture, development, transcription factor, signaling molecule.

  13. More are awaiting for craniofacial intervention

    International Nuclear Information System (INIS)

    Fan Xindong

    2006-01-01

    The scale of craniofacial intervention lies between the fields of neuro-intervention and peripheral interventional for the main purpose to investigate, diagnose and treat the disease entities originating from or supplied by the external carotid arterial system. Patients are usually refered to the oral and maxillofacial surgery, plastic surgery and otolaryngeal surgery. Craniofacial intervention includes mainly the diagnosis and treatment with adjuvant embolization of high-flow vascular diseases, intra-arterial chemotherapy of malignant tumors, embolization of epistaxis, etc. At present, there is no consensus with regard to the diagnosis and treatment of some craniofacial diseases, therefore further investigation and discussion are needed. (authors)

  14. Core issues in craniofacial myogenesis

    International Nuclear Information System (INIS)

    Kelly, Robert G.

    2010-01-01

    Branchiomeric craniofacial muscles control feeding, breathing and facial expression. These muscles differ on multiple counts from all other skeletal muscles and originate in a progenitor cell population in pharyngeal mesoderm characterized by a common genetic program with an adjacent population of cardiac progenitor cells, the second heart field, that gives rise to much of the heart. The transcription factors and signaling molecules that trigger the myogenic program at sites of branchiomeric muscle formation are correspondingly distinct from those in somite-derived muscle progenitor cells. Here new insights into the regulatory hierarchies controlling branchiomeric myogenesis are discussed. Differences in embryological origin are reflected in the lineage, transcriptional program and proliferative and differentiation properties of branchiomeric muscle satellite cells. These recent findings have important implications for our understanding of the diverse myogenic strategies operative both in the embryo and adult and are of direct biomedical relevance to deciphering the mechanisms underlying the cause and progression of muscle restricted myopathies.

  15. Benign fibrous histiocytoma of the lumbar vertebrae

    International Nuclear Information System (INIS)

    Demiralp, Bahtiyar; Oguz, Erbil; Sehirlioglu, Ali; Kose, Ozkan; Sanal, Tuba; Ozcan, Ayhan

    2009-01-01

    Benign fibrous histiocytoma is an extremely rare spinal tumor with ten reported cases in the literature. Benign fibrous histiocytoma constitutes a diagnostic challenge because it shares common clinical symptoms, radiological characteristics, and histological features with other benign lesions involving the spine. We present a case of benign fibrous histiocytoma of the lumbar spine and discuss its differential diagnosis and management. (orig.)

  16. Orthognathic Surgery in Craniofacial Microsomia: Treatment Algorithm

    Science.gov (United States)

    Valladares, Salvador; Torrealba, Ramón; Nuñez, Marcelo; Uribe, Francisca

    2015-01-01

    Summary: Craniofacial microsomia is a broad term that covers a variety of craniofacial malformation conditions that are caused by alterations in the derivatives of the first and second pharyngeal arches. In general terms, diverse therapeutic alternatives are proposed according to the growth stage and the severity of the alteration. When craniofacial growth has concluded, conventional orthognathic surgery (Le Fort I osteotomy, bilateral sagittal split osteotomy, and genioplasty) provides good alternatives for MI and MIIA type cases. Reconstruction of the mandibular ramus and temporomandibular joint before orthognathic surgery is the indicated treatment for cases MIIB and MIII. The goal of this article is to establish a surgical treatment algorithm for orthognathic surgery on patients with craniofacial microsomia, analyzing the points that allow the ideal treatment for each patient to be chosen. PMID:25674375

  17. Growth Hormone and Craniofacial Tissues. An update

    OpenAIRE

    Litsas, George

    2015-01-01

    Growth hormone is an important regulator of bone homeostasis. In childhood, it determines the longitudinal bone growth, skeletal maturation, and acquisition of bone mass. In adulthood, it is necessary to maintain bone mass throughout life. Although an association between craniofacial and somatic development has been clearly established, craniofacial growth involves complex interactions of genes, hormones and environment. Moreover, as an anabolic hormone seems to have an important role in the ...

  18. Relationships between craniofacial pain and bruxism.

    Science.gov (United States)

    Svensson, P; Jadidi, F; Arima, T; Baad-Hansen, L; Sessle, B J

    2008-07-01

    A still commonly held view in the literature and clinical practice is that bruxism causes pain because of overloading of the musculoskeletal tissue and craniofacial pain, on the other hand, triggers more bruxism. Furthermore, it is often believed that there is a dose-response gradient so that more bruxism (intensity, duration) leads to more overloading and pain. Provided the existence of efficient techniques to treat bruxism, it would be straightforward in such a simple system to target bruxism as the cause of pain and hence treat the pain. Of course, human biological systems are much more complex and therefore, it is no surprise that the relationship between bruxism and pain is far from being simple or even linear. Indeed, there are unexpected relationships, which complicate the establishment of adequate explanatory models. Part of the reason is the complexity of the bruxism in itself, which presents significant challenges related to operationalized criteria and diagnostic tools and underlying pathophysiology issues, which have been dealt with in other reviews in this issue. However, another important reason is the multifaceted nature of craniofacial pain. This review will address our current understanding of classification issues, epidemiology and neurobiological mechanisms of craniofacial pain. Experimental models of bruxism may help to further the understanding of the relationship between craniofacial pain and bruxism in addition to insights from intervention studies. The review will enable clinicians to understand the reasons why simple cause-effect relationships between bruxism and craniofacial pain are inadequate and the current implications for management of craniofacial pain.

  19. Craniofacial and dental development in Costello syndrome.

    Science.gov (United States)

    Goodwin, Alice F; Oberoi, Snehlata; Landan, Maya; Charles, Cyril; Massie, Jessica C; Fairley, Cecilia; Rauen, Katherine A; Klein, Ophir D

    2014-06-01

    Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upstream of Ras/MAPK, is known to play a critical role in craniofacial and dental development, the craniofacial and dental features of CS have not been systematically defined in a large group of individuals. In order to address this gap in our understanding and fully characterize the CS phenotype, we evaluated the craniofacial and dental phenotype in a large cohort (n = 41) of CS individuals. We confirmed that the craniofacial features common in CS include macrocephaly, bitemporal narrowing, convex facial profile, full cheeks, and large mouth. Additionally, CS patients have a characteristic dental phenotype that includes malocclusion with anterior open bite and posterior crossbite, enamel hypo-mineralization, delayed tooth development and eruption, gingival hyperplasia, thickening of the alveolar ridge, and high palate. Comparison of the craniofacial and dental phenotype in CS with other RASopathies, such as cardio-facio-cutaneous syndrome (CFC), provides insight into the complexities of Ras/MAPK signaling in human craniofacial and dental development. © 2014 Wiley Periodicals, Inc.

  20. Fibrous metaphyseal defect (fibrous cortical defect, non-ossifying fibroma)

    International Nuclear Information System (INIS)

    Freyschmidt, J.; Saure, D.; Dammenhain, S.

    1981-01-01

    Fibrous cortical defect and nonossifying fibromas can be classified together as fibrous metaphyseal defects (FMD) since they have the same pahtological substrate, with a tendency to the same localisation around the knee, and occuring at the same age. They have a tendency to spontaneous healing, are clinically silent and are usually discovered accidentally during radiological examination. A radiological survey fo 5.674 metaphyseal regions in the upper and lower extremities of 2.065 unselected patients aged one to 20 years revealed an incidence of 1.8%; exlcusive examination of the distal femur showed an incidence of 2.7%. 96% of all lesions were in the lower extremities and only 4% in the upper. The marked discrepancy in the incidence rate between American and German publications is discussed. (orig.) [de

  1. The 50 Most Cited Papers in Craniofacial Anomalies and Craniofacial Surgery.

    Science.gov (United States)

    Mahon, Nicola A; Joyce, Cormac W; Thomas, Sangeetha; Concannon, Elizabeth; Murray, Dylan

    2015-09-01

    Citation analysis is a recognized scientometric method of classifying cited articles according to the frequency of which they have been referenced. The total number of citations an article receives is considered to reflect it's significance among it's peers. Until now, a bibliometric analysis has never been performed in the specialty of craniofacial anomalies and craniofacial surgery. This citation analysis generates an extensive list of the 50 most influential papers in this developing field. Journals specializing in craniofacial surgery, maxillofacial surgery, plastic surgery, neurosurgery, genetics and pediatrics were searched to demonstrate which articles have cultivated the specialty within the past 55 years. The results show an intriguing compilation of papers which outline the fundamental knowledge of craniofacial anomalies and the developments of surgical techniques to manage these patients. This citation analysis provides a summation of the current most popular trends in craniofacial literature. These esteemed papers aid to direct our decision making today within this specialty.

  2. Ectodermal Dysplasia: A Case Report

    Science.gov (United States)

    2011-01-01

    Ectodermal dysplasia is a hereditary disease characterized by dysplasia of tissues of ectodermal origin. The incidence of ectodermal dysplasia is rare (1 in 100,000 birth). This case report discusses the features, classification and prosthetic treatment plan (upper partial denture and lower complete denture for upper partial and lower complete edentulous arches respectively). This treatment plan would be able to provide psychological and functional boost to the sufferer. PMID:27678241

  3. Familial ectodermal dysplasia: a peers' agony.

    Science.gov (United States)

    Hegde, Karthik; Kashyap, Roopashri Rajesh; Nair, Gopakumar; Nair, Preeti P

    2013-07-23

    Ectodermal dysplasias include a various group of inherited disorders which share primary defect in the development of two or more tissues of embryonic ectodermal origin. Though there are many subtypes, ectodermal dysplasias are mainly hidrotic ectodermal dysplasia and hypohidrotic ectodermal dysplasia, among which the most common variety is X linked hypohidrotic ectodermal dysplasia. We report a rare case of X linked hypohidrotic ectodermal dysplasia occurring in a family with various skin, hair and oral abnormalities.

  4. Cloverleaf skull with generalised bone dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K.; Warren, P.S.; Fisher, C.C.

    1985-09-01

    A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished.

  5. Craniofacial Reconstruction Evaluation by Geodesic Network

    Directory of Open Access Journals (Sweden)

    Junli Zhao

    2014-01-01

    Full Text Available Craniofacial reconstruction is to estimate an individual’s face model from its skull. It has a widespread application in forensic medicine, archeology, medical cosmetic surgery, and so forth. However, little attention is paid to the evaluation of craniofacial reconstruction. This paper proposes an objective method to evaluate globally and locally the reconstructed craniofacial faces based on the geodesic network. Firstly, the geodesic networks of the reconstructed craniofacial face and the original face are built, respectively, by geodesics and isogeodesics, whose intersections are network vertices. Then, the absolute value of the correlation coefficient of the features of all corresponding geodesic network vertices between two models is taken as the holistic similarity, where the weighted average of the shape index values in a neighborhood is defined as the feature of each network vertex. Moreover, the geodesic network vertices of each model are divided into six subareas, that is, forehead, eyes, nose, mouth, cheeks, and chin, and the local similarity is measured for each subarea. Experiments using 100 pairs of reconstructed craniofacial faces and their corresponding original faces show that the evaluation by our method is roughly consistent with the subjective evaluation derived from thirty-five persons in five groups.

  6. A zebrafish screen for craniofacial mutants identifies wdr68 as a highly conserved gene required for endothelin-1 expression

    Directory of Open Access Journals (Sweden)

    Amsterdam Adam

    2006-06-01

    Full Text Available Abstract Background Craniofacial birth defects result from defects in cranial neural crest (NC patterning and morphogenesis. The vertebrate craniofacial skeleton is derived from cranial NC cells and the patterning of these cells occurs within the pharyngeal arches. Substantial efforts have led to the identification of several genes required for craniofacial skeletal development such as the endothelin-1 (edn1 signaling pathway that is required for lower jaw formation. However, many essential genes required for craniofacial development remain to be identified. Results Through screening a collection of insertional zebrafish mutants containing approximately 25% of the genes essential for embryonic development, we present the identification of 15 essential genes that are required for craniofacial development. We identified 3 genes required for hyomandibular development. We also identified zebrafish models for Campomelic Dysplasia and Ehlers-Danlos syndrome. To further demonstrate the utility of this method, we include a characterization of the wdr68 gene. We show that wdr68 acts upstream of the edn1 pathway and is also required for formation of the upper jaw equivalent, the palatoquadrate. We also present evidence that the level of wdr68 activity required for edn1 pathway function differs between the 1st and 2nd arches. Wdr68 interacts with two minibrain-related kinases, Dyrk1a and Dyrk1b, required for embryonic growth and myotube differentiation, respectively. We show that a GFP-Wdr68 fusion protein localizes to the nucleus with Dyrk1a in contrast to an engineered loss of function mutation Wdr68-T284F that no longer accumulated in the cell nucleus and failed to rescue wdr68 mutant animals. Wdr68 homologs appear to exist in all eukaryotic genomes. Notably, we found that the Drosophila wdr68 homolog CG14614 could substitute for the vertebrate wdr68 gene even though insects lack the NC cell lineage. Conclusion This work represents a systematic

  7. Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features

    Energy Technology Data Exchange (ETDEWEB)

    Miller, S.F. [Dept. of Radiology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Proud, V.K. [Dept. of Genetics, Children' s Hospital of the King' s Daughters, Norfolk (United States); Werner, A.L. [Dept. of Pathology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Field, F.M.; Wilcox, W.F.; Lachman, R.S.; Rimoin, D.L. [International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles (United States)

    2003-04-01

    Background: Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and in genetic counseling. Objective: To describe the diagnostic radiographic features seen in Pacman dysplasia, a distinct autosomal recessive, lethal skeletal dysplasia. Materials and methods: We present the fourth reported case of Pacman dysplasia and compare the findings seen in our patient with the three previously described patients. Results: Invariable and variable radiographic findings were seen in all four cases of histologically proven Pacman dysplasia. Conclusion: Pacman dysplasia presents both constant and variable diagnostic radiographic features. (orig.)

  8. Craniofacial ontogeny in Centrosaurus apertus

    Directory of Open Access Journals (Sweden)

    Joseph A. Frederickson

    2014-02-01

    Full Text Available Centrosaurus apertus, a large bodied ceratopsid from the Late Cretaceous of North America, is one of the most common fossils recovered from the Belly River Group. This fossil record shows a wide diversity in morphology and size, with specimens ranging from putative juveniles to fully-grown individuals. The goal of this study was to reconstruct the ontogenetic changes that occur in the craniofacial skeleton of C. apertus through a quantitative cladistic analysis. Forty-seven cranial specimens were independently coded in separate data matrices for 80 hypothetical multistate growth characters and 130 hypothetical binary growth characters. Both analyses yielded the max-limit of 100,000 most parsimonious saved trees and the strict consensus collapsed into large polytomies. In order to reduce conflict resulting from missing data, fragmentary individuals were removed and the analyses were rerun. Among both the complete and the reduced data sets the multistate analyses recovered a shorter tree with a higher consistency index (CI than the additive binary data sets. The arrangement within the trees shows a progression of specimens with a recurved nasal horn in the least mature individuals, followed by specimens with straight nasal horns in relatively more mature individuals, and finally specimens with procurved nasal horns in the most mature individuals. The most mature individuals are further characterized by the reduction of the cranial horn ornamentations in late growth stages, a trait that similarly occurs in the growth of other dinosaurs. Bone textural changes were found to be sufficient proxies for relative maturity in individuals that have not reached adult size. Additionally, frill length is congruent with relative maturity status and makes an acceptable proxy for ontogenetic status, especially in smaller individuals. In adult-sized individuals, the fusion of the epiparietals and episquamosals and the orientation of the nasal horn are the best

  9. Advances in Bioprinting Technologies for Craniofacial Reconstruction.

    Science.gov (United States)

    Visscher, Dafydd O; Farré-Guasch, Elisabet; Helder, Marco N; Gibbs, Susan; Forouzanfar, Tymour; van Zuijlen, Paul P; Wolff, Jan

    2016-09-01

    Recent developments in craniofacial reconstruction have shown important advances in both the materials and methods used. While autogenous tissue is still considered to be the gold standard for these reconstructions, the harvesting procedure remains tedious and in many cases causes significant donor site morbidity. These limitations have subsequently led to the development of less invasive techniques such as 3D bioprinting that could offer possibilities to manufacture patient-tailored bioactive tissue constructs for craniofacial reconstruction. Here, we discuss the current technological and (pre)clinical advances of 3D bioprinting for use in craniofacial reconstruction and highlight the challenges that need to be addressed in the coming years. Copyright © 2016 Elsevier Ltd. All rights reserved.

  10. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

    Science.gov (United States)

    Pehlivan, Davut; Karaca, Ender; Aydin, Hatip; Beck, Christine R; Gambin, Tomasz; Muzny, Donna M; Bilge Geckinli, B; Karaman, Ali; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R

    2014-09-01

    Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challenging to diagnose. Here we report a patient with a clinical diagnosis of cerebro-facio-thoracic dysplasia (CFTD; MIM#213980) in whom we identified a homozygous splice-site mutation in the transmembrane and coiled-coil domains 1 (TMCO1) gene using WES. TMCO1 mutations cause craniofacial dysmorphism, skeletal anomalies characterized by multiple malformations of the vertebrae and ribs, and intellectual disability (MIM#614132). A retrospective review revealed that clinical manifestations of both syndromes are very similar and overlap remarkably. We propose that mutations of TMCO1 are not only responsible for craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome but also for CFTD.

  11. Composite fibrous glaucoma drainage implant

    Science.gov (United States)

    Klapstova, A.; Horakova, J.; Shynkarenko, A.; Lukas, D.

    2017-10-01

    Glaucoma is a frequent reason of loss vision. It is usually caused by increased intraocular pressure leading to damage of optic nerve head. This work deals with the development of fibrous structure suitable for glaucoma drainage implants (GDI). Commercially produced metallic glaucoma implants are very effective in lowering intraocular pressure. However, these implants may cause adverse events such as damage to adjacent tissue, fibrosis, hypotony or many others [1]. The aim of this study is to reduce undesirable properties of currently produced drains and improve their properties by creating of the composite fibrous drain for achieve a normal intraocular pressure. Two types of electrospinning technologies were used for the production of very small tubular implants. First type was focused for production of outer part of tubular drain and the second type of electrospinning method made the inner part of shape follows the connections of both parts. Complete implant had a special properties suitable for drainage of fluid. Morphological parameters, liquid transport tests and in-vitro cell adhesion tests were detected.

  12. Keratoprosthesis in Ectodermal Dysplasia.

    Science.gov (United States)

    Wozniak, Rachel A F; Gonzalez, Mithra; Aquavella, James V

    2016-07-01

    To describe the complex surgical management and novel medical approach for a keratoprosthesis (KPro Boston type I) in a monocular, 73-year-old patient with ectodermal dysplasia and chronic, noninfectious corneal necrosis. Best-corrected visual acuity (BCVA) was measured with Snellen letters. Surgical intervention included an amniotic membrane graft, complete replacement of the KPro, conjunctival flap graft, corneal donor tissue grafts combined with inferior rectus muscle advancement, periosteal tissue graft, tarso-conjunctival flap construction, and symblepharolysis. Infliximab was used as a medical adjunctive therapy. Initial KPro placement provided a BCVA of 20/25 and long-term stability. Subsequent chronic melting at the optic border necessitated numerous surgeries to prevent extrusion and failure. Ultimate fistulization was addressed with the formation of a surgical pocket. The addition of infliximab promoted ocular surface stability, and the patient has maintained a BCVA of 20/80. Ectodermal dysplasia can result in eyelid and corneal abnormalities, requiring a KPro for visual restoration. In the setting of chronic, sterile corneal melt, novel surgical approaches and the off-label use of infliximab allowed for visual rehabilitation.

  13. Displasia broncopulmonar Bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Luciana F. Velloso Monte

    2005-04-01

    Full Text Available OBJETIVO: Apresentar uma ampla revisão da literatura sobre displasia broncopulmonar, abordando novas definições, fisiopatologia, prevenção, tratamento, prognóstico e evolução. FONTE DOS DADOS: Foram selecionados os artigos mais relevantes sobre o tema, desde a sua descrição inicial, em 1967, pesquisados na MEDLINE. SÍNTESE DOS DADOS: A displasia broncopulmonar é considerada uma das principais causas de doença pulmonar crônica em lactentes. Está associada a hospitalizações freqüentes e prolongadas, especialmente por doenças pulmonares, altos índices de mortalidade e alterações no desenvolvimento neuropsicomotor e no crescimento pôndero-estatural. A patogênese é complexa e influenciada principalmente por prematuridade, infecção, oxigênio suplementar e ventilação mecânica. A prevenção envolve o acompanhamento pré-natal adequado, a prevenção do parto prematuro, o uso pré-natal do corticosteróide, a terapia de reposição de surfactante e o uso de estratégias ventilatórias "protetoras". O tratamento do paciente com displasia broncopulmonar demanda uma equipe multidisciplinar. Quando indicada, a suplementação de oxigênio é de extrema importância. Apesar de maior risco de morbimortalidade nos primeiros anos de vida, a evolução em longo prazo é favorável na maioria das vezes. CONCLUSÕES: A displasia broncopulmonar vem sendo profundamente estudada na tentativa de identificação das suas causas e possibilidades de prevenção e de tratamento. Ainda existem controvérsias quanto a esses assuntos e também em relação ao prognóstico desses pacientes, especialmente quando se trata da evolução tardia da "nova" displasia broncopulmonar.OBJECTIVE: To present a wide-ranging review of the literature on bronchopulmonary dysplasia, covering new definitions, pathophysiology, prevention, treatment, prognosis and progression. SOURCES OF DATA: The most relevant articles published on the subject since it was first

  14. Periapical cemento-osseous dysplasia: clinicopathological features.

    Science.gov (United States)

    Roghi, Marco; Scapparone, Chiara; Crippa, Rolando; Silvestrini-Biavati, Armando; Angiero, Francesca

    2014-05-01

    Periapical cemento-osseous dysplasia (PCOD) is a rare benign lesion, often asymptomatic, in which fibrous tissue replaces the normal bone tissue, with metaplasic bone and neo-formed cement. We present a rare case of mandibular PCOD in a woman of 55 years, who presented with moderate swelling and mobility of teeth 32-33-34. Endoral radiography showed that these teeth had been devitalized; they had deep periodontal pockets and marked radicular radiotransparency; the root apices exhibited mixed radiotransparency and radio-opacity. Clinical and radiographical findings led to a diagnosis of periapical rarefying osteitis, and the three teeth were thus extracted. Due to the persistence of swelling and slight pain post-extraction, a cone-beam computed tomographic scan was taken; this showed a mixed radiotransparent and radio-opaque lesion in the area of the extracted teeth. A bone biopsy of the affected area was taken for histopathological evaluation; a diagnosis of PCOD was rendered. This case demonstrates the importance of a full investigation when a patient presents after tooth extraction with non-healing socket, pain, and swelling. A multidisciplinary approach is required to manage these rare cases.

  15. Discrimination among adults with craniofacial conditions.

    Science.gov (United States)

    Roberts, Rachel M

    2014-01-01

    The primary goal of this study was to establish the level of perceived discrimination experienced by adults with congenital craniofacial conditions in Australia and to examine predictors of discrimination. Specifically, this study tested whether social support mediates the relationship between discrimination and health. Adults (n = 93) who had been treated at the Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide for congenital craniofacial conditions (not including cleft lip and/or palate) completed questionnaires examining satisfaction with life, quality of life, anxiety and depression, self-esteem, satisfaction with social support, and satisfaction with appearance. A substantial minority of adults with congenital craniofacial conditions reported that they experience discrimination almost every day in a range of areas. Higher reports of discrimination were related to older age, being male, and less education. Other factors related to higher discrimination included lower levels of satisfaction with life, self-esteem, satisfaction with appearance and mental quality of life, as well as higher levels of anxiety and depression. Social support partially mediated the relationship between discrimination and mental health outcomes. The current study shows that discrimination experiences continue into adulthood confirming the importance of ensuring patients are well supported both by psychosocial services as well as within their own social support networks.

  16. Craniofacial orthodontics and postgraduate orthodontic training in ...

    African Journals Online (AJOL)

    The least clinical experience was recorded in pre-bone graft orthodontics (7.4%) and orthodontic preparation for orthognathic surgery (5.5%). Some of the challenges highlighted by the residents were low patients turn out for orthodontic care and the absence of multidisciplinary treatment for craniofacial patients in their ...

  17. Surgical treatment of craniofacial haemangioma in children

    African Journals Online (AJOL)

    Keywords: craniofacial area, haemangioma, surgical treatment ... Correspondence to Kamal Abdel-Elah Aly, Pediatric Surgery Unit, ..... Adverse effects of systemic glucocorticosteroid therapy in infants with hemangiomas. Arch Dermatol 2004; 140:963–969. 23 Siegfried EC, Keenan WJ, Al Jureidini S. More on propranolol ...

  18. Advances in bioprinting technologies for craniofacial reconstruction

    NARCIS (Netherlands)

    Visscher, D.O.; Farré-Guasch, E.; Helder, M.N.; Gibbs, S.; Forouzanfar, T.; van Zuijlen, P.P.; Wolff, J.

    2016-01-01

    Recent developments in craniofacial reconstruction have shown important advances in both the materials and methods used. While autogenous tissue is still considered to be the gold standard for these reconstructions, the harvesting procedure remains tedious and in many cases causes significant donor

  19. [Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported].

    Science.gov (United States)

    Cammarata-Scalisi, Francisco; Matysiak-Scholze, Uta; Heinze, Jessica; Barrera, Albaro; Lacruz-Rengel, María Angelina; Bracho, Ana; Guerrero, Yudith

    2015-01-01

    Metatropic dysplasia is a skeletal disorder with clinical heterogeneity, characterized by craniofacial dysmorphy including frontal bossing and midface hypoplasia, short trunk,progressive kyphoscoliosis and shortened limbs. The TRPV4 gene is located on 12q24.11, coding a cation channel with nonselective permeability to calcium; it is expressed and involved in many physiological processes through responses to different stimuli. Over 50 mutations in TRPV4 have been described. We present a seven months old girl with heterozygous mutation c.1811_1812delinsAT; p.I604N in intron 11 not previously reported in the TRPV4 gene and with clinical findings compatible with metatropic dysplasia.

  20. Radiographic diagnosis of a rare case of oculo-dento-digital dysplasia

    Directory of Open Access Journals (Sweden)

    Umesh Chandra Parashari

    2011-12-01

    Full Text Available Oculodentodigital dysplasia (ODDD, also known as oculodento-osseous dysplasia, is an extremely rare autosomal dominant disorder with high penetrance, intra- and interfamilial phenotypic variability, and advanced paternal age in sporadic cases. The incidence of this disease is not precisely known, with only 243 cases reported in the scientific literature, suggesting an incidence of around 1 in 10 million people. It is marked mainly by eye abnormalities, craniofacial dysmorphism, dental anomalies, hand and foot malformations, various skeletal defects, and mildly delayed mental development. Neurological changes may appear earlier in each subsequent generation. This case report describes a radiological diagnosis of ODDD based on physical appearance, clinical features and radiographic findings in a 16-year-old girl.

  1. Conventional Complete Denture in Patients with Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Larissa Soares Reis Vilanova

    2015-01-01

    Full Text Available Ectodermal dysplasia is described as heritable conditions that involve anomalies of structures derived from the ectoderm, including hypodontia. In the cases of edentulous young patients, who did not finish their craniofacial growth, treatment with conventional complete denture is a suitable alternative. The aim of this study was to report a case of mandibular edentulism treated with conventional complete denture in a thirteen-year-old patient diagnosed with hidrotic ectodermal dysplasia. Typical features, such as frontal bossing, depressed nasal bridge, protuberant lips, scarce hair, and brittle nails, were visualized during the extraoral examination. The intraoral inspection and radiographic analysis revealed oligodontia, dental malformation, and prolonged retention of deciduous teeth at maxilla and total edentulism at mandible. A conventional complete denture was planned and constructed following the same steps of technique as recommended in adults. Although this option is not a definitive treatment, the patient and his parents were satisfied with his improvement in chewing and speech, as well as with the aesthetic benefits.

  2. Nutritional fibrous osteodystrophy in goats

    Directory of Open Access Journals (Sweden)

    Paulo M Bandarra

    2011-10-01

    Full Text Available Seven out of 25 goats from a southern Brazilian flock developed nutritional fibrous osteodystrophy. Affected animals were younger than 1 year of age and were confined in stalls and fed a concentrate ration containing 1:6 calcium:phosphorus ratio. The remaining flock (35 goats was managed at pasture and showed no disease. Clinical signs were characterized by mandibular and maxillary enlargements, varying degrees of mouth opening and protruding tongue, dyspnea, apart of abnormalities of prehension and mastication. Affected animals had increased seric levels of phosphorus and parathormone, as well as higher alkaline phosphatase activity. Postmortem examination on three succumbed goats revealed bilateral enlargement of the maxilla and mandibula, and loose teeth, apart of multiple incomplete rib fractures in one of them. Severe diffuse proliferation of loose connective tissue surrounded the osteoid trabeculae, many of which were partially or completely non-mineralized. Mineralized osteoid trabeculae showed osteoclasts in the Howship's lacunae.

  3. Creep of fibrous composite materials

    DEFF Research Database (Denmark)

    Lilholt, Hans

    1985-01-01

    Models are presented for the creep behaviour of fibrous composite materials with aligned fibres. The models comprise both cases where the fibres remain rigid in a creeping matrix and cases where the fibres are creeping in a creeping matrix. The treatment allows for several contributions...... to the creep strength of composites. The advantage of combined analyses of several data sets is emphasized and illustrated for some experimental data. The analyses show that it is possible to derive creep equations for the (in situ) properties of the fibres. The experiments treated include model systems...... such as Ni + W-fibres, high temperature materials such as Ni + Ni3Al + Cr3C2-fibres, and medium temperature materials such as Al + SiC-fibres. For the first two systems reasonable consistency is found for the models and the experiments, while for the third system too many unquantified parameters exist...

  4. Evaluation of Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Zelal Baskan

    2006-04-01

    Full Text Available This case series report outlines possible cranio-maxillofacial deformation consequences associated with ectodermal dysplasia (ED and embryonic malformations, including dental agenesis. Also described are the oral aspects and rehabilitation. A total of 14 ED patients (7 males and 7 females, aged 5-45 years underwent clinical examination before assessment and treatment. Lateral cephalometric radiography, Steiner's analysis, and respiratory capacity tests were performed. Most of the patients had sparse or absent hair, a short face with an unusual facial concavity, a maxillary retrusion, and a relative mandible protrusion. Depending on age and orthopedic abnormalities, patients were treated with prosthodontic and orthodontic approaches or implant treatment. Therapists should take a comprehensive and multidisciplinary approach with these patients to improve their dental, masticatory, growth, and orthognathic conditions, as well as esthetic appearance.

  5. Arrhythmogenic right ventricular dysplasia

    International Nuclear Information System (INIS)

    Vignolo Puglia, W.; Freire Colla, D.; Rivara Urrutia, D.; Lujambio Grene, M.; Arbiza Bruno, T.; Oliveira, G.; Cobas Rodriguez, J.

    1997-01-01

    The arrhythmogenic right ventricular dysplasia is a condition predominantly well defined with arrhythmic events. We analyze three cases diagnosed by the group. These cases were presented as ventricular tachycardia with a morphology of left bundle branch block, presenting one of them aborted sudden death in evolution. The baseline electrocardiogram and signal averaging were abnormal in two of the three cases, like the echocardiogram. The electrophysiological study was able to induce in the three patients with sustained monomorphic ventricular tachycardia morphology of left bundle branch block. The definitive diagnosis was made by right ventriculography in two cases and magnetic resonance imaging in the other. Treatment included antiarrhythmic drugs in the three cases and the placement of an automatic defibrillator which survived a sudden death (Author)

  6. Genetics Home Reference: metatropic dysplasia

    Science.gov (United States)

    ... is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is ... my area? Other Names for This Condition metatropic dwarfism metatropic dysplasia type 1 Related Information How are ...

  7. Oral epithelial dysplasia classification systems

    DEFF Research Database (Denmark)

    Warnakulasuriya, S; Reibel, J; Bouquot, J

    2008-01-01

    At a workshop coordinated by the WHO Collaborating Centre for Oral Cancer and Precancer in the United Kingdom issues related to potentially malignant disorders of the oral cavity were discussed by an expert group. The consensus views of the Working Group are presented in a series of papers....... In this report, we review the oral epithelial dysplasia classification systems. The three classification schemes [oral epithelial dysplasia scoring system, squamous intraepithelial neoplasia and Ljubljana classification] were presented and the Working Group recommended epithelial dysplasia grading for routine...... use. Although most oral pathologists possibly recognize and accept the criteria for grading epithelial dysplasia, firstly based on architectural features and then of cytology, there is great variability in their interpretation of the presence, degree and significance of the individual criteria...

  8. Septooptic dysplasia : a case report

    International Nuclear Information System (INIS)

    Kim, Jung Hae; Choi, Dae Seob; Lee, Chang Wook; Kim, Soon; Kim, Seung Hyeon; Lee, Sung Woo; Ha, Jung Ho; Sakong, Jung Kyu; Lee, Hyeon Kyeong

    2001-01-01

    Septooptic dysplasia is a rare anterior midline anomaly considered to be a mild form of lobar holoprosencephaly. We describe a case with unilateral optic nerve hypoplasia and the absence of a septum pellucidum

  9. Jansen type of spondylometaphyseal dysplasia

    International Nuclear Information System (INIS)

    Campbell, J.B.; Kozlowski, K.; Lejman, T.; Sulko, J.

    2000-01-01

    Metaphyseal dysplasia, type Jansen (JMD), is a rare skeletal dysplasia with characteristic radiographic abnormalities. Of the various types of metaphyseal dysplasia, JMD shows the most severe alteration in metaphyseal architecture. All of the long tubular bones, including those of the hands and feet, show metaphyseal irregularity with a fragmented appearance and slight widening. The adjacent physes are abnormally widened, while the epiphyses tend to be slightly enlarged, rounded but otherwise normal. The spine in infancy and childhood usually appears normal. This report describes a young girl with metaphyseal changes typical of JMD except for the hands and feet, which appeared normal. She also showed very unusual abnormalities of the spine. This appears, therefore, to represent a unique osteochondrodysplasia for which we propose the term spondylometaphyseal dysplasia, type Jansen. (orig.)

  10. Fibromuscular dysplasia of renal arteries

    International Nuclear Information System (INIS)

    Akhtar, N.; Ahmed, T.M.

    2007-01-01

    This case reports a young child having uncontrolled hypertension, resulting from bilateral renal artery stenosis due to fibromuscular dysplasia presenting with abdominal pain, headache and visual disturbance. Diagnostic features and management is discussed. (author)

  11. Focal cortical dysplasia – review

    International Nuclear Information System (INIS)

    Kabat, Joanna; Król, Przemysław

    2012-01-01

    Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed – from Taylor et al. in 1971 to the last modification of Palmini classification made by Blumcke in 2011. In general, three types of cortical dysplasia are recognized. Type I focal cortical dysplasia with mild symptomatic expression and late onset, is more often seen in adults, with changes present in the temporal lobe. Clinical symptoms are more severe in type II of cortical dysplasia usually seen in children. In this type, more extensive changes occur outside the temporal lobe with predilection for the frontal lobes. New type III is one of the above dysplasias with associated another principal lesion as hippocampal sclerosis, tumor, vascular malformation or acquired pathology during early life. Brain MRI imaging shows abnormalities in the majority of type II dysplasias and in only some of type I cortical dysplasias. The most common findings on MRI imaging include: focal cortical thickening or thinning, areas of focal brain atrophy, blurring of the gray-white junction, increased signal on T2- and FLAIR-weighted images in the gray and subcortical white matter often tapering toward the ventricle. On the basis of the MRI findings, it is possible to differentiate between type I and type II cortical dysplasia. A complete resection of the epileptogenic zone is required for seizure-free life. MRI imaging is very helpful to identify those patients who are likely to benefit from surgical treatment in a group of patients with drug-resistant epilepsy. However, in type I cortical dysplasia, MR imaging is often normal, and also in both

  12. Quantifying Normal Craniofacial Form and Baseline Craniofacial Asymmetry in the Pediatric Population.

    Science.gov (United States)

    Cho, Min-Jeong; Hallac, Rami R; Ramesh, Jananie; Seaward, James R; Hermann, Nuno V; Darvann, Tron A; Lipira, Angelo; Kane, Alex A

    2018-03-01

    Restoring craniofacial symmetry is an important objective in the treatment of many craniofacial conditions. Normal form has been measured using anthropometry, cephalometry, and photography, yet all of these modalities have drawbacks. In this study, the authors define normal pediatric craniofacial form and craniofacial asymmetry using stereophotogrammetric images, which capture a densely sampled set of points on the form. After institutional review board approval, normal, healthy children (n = 533) with no known craniofacial abnormalities were recruited at well-child visits to undergo full head stereophotogrammetric imaging. The children's ages ranged from 0 to 18 years. A symmetric three-dimensional template was registered and scaled to each individual scan using 25 manually placed landmarks. The template was deformed to each subject's three-dimensional scan using a thin-plate spline algorithm and closest point matching. Age-based normal facial models were derived. Mean facial asymmetry and statistical characteristics of the population were calculated. The mean head asymmetry across all pediatric subjects was 1.5 ± 0.5 mm (range, 0.46 to 4.78 mm), and the mean facial asymmetry was 1.2 ± 0.6 mm (range, 0.4 to 5.4 mm). There were no significant differences in the mean head or facial asymmetry with age, sex, or race. Understanding the "normal" form and baseline distribution of asymmetry is an important anthropomorphic foundation. The authors present a method to quantify normal craniofacial form and baseline asymmetry in a large pediatric sample. The authors found that the normal pediatric craniofacial form is asymmetric, and does not change in magnitude with age, sex, or race.

  13. [Cochleovestibular dysplasia: a case report].

    Science.gov (United States)

    Darbi, A; Cenoui, F; Atmane, A; Amil, T; Hanine, A

    2010-04-01

    Cochleovestibular dysplasia or Mondini malformation is exceptional. Cochlear dysplasia is due to early cessation of the development of the inner ear during embryonic life. We report on the case of an infant who presented with perception deafness and repeated meningitis. CT allowed the diagnosis of Mondini malformation. We underline the importance of high-resolution CT in the diagnosis of Mondini malformation. Copyright 2010 Elsevier Masson SAS. All rights reserved.

  14. Fibrous-Ceramic/Aerogel Composite Insulating Tiles

    Science.gov (United States)

    White, Susan M.; Rasky, Daniel J.

    2004-01-01

    Fibrous-ceramic/aerogel composite tiles have been invented to afford combinations of thermal-insulation and mechanical properties superior to those attainable by making tiles of fibrous ceramics alone or aerogels alone. These lightweight tiles can be tailored to a variety of applications that range from insulating cryogenic tanks to protecting spacecraft against re-entry heating. The advantages and disadvantages of fibrous ceramics and aerogels can be summarized as follows: Tiles made of ceramic fibers are known for mechanical strength, toughness, and machinability. Fibrous ceramic tiles are highly effective as thermal insulators in a vacuum. However, undesirably, the porosity of these materials makes them permeable by gases, so that in the presence of air or other gases, convection and gas-phase conduction contribute to the effective thermal conductivity of the tiles. Other disadvantages of the porosity and permeability of fibrous ceramic tiles arise because gases (e.g., water vapor or cryogenic gases) can condense in pores. This condensation contributes to weight, and in the case of cryogenic systems, the heat of condensation undesirably adds to the heat flowing to the objects that one seeks to keep cold. Moreover, there is a risk of explosion associated with vaporization of previously condensed gas upon reheating. Aerogels offer low permeability, low density, and low thermal conductivity, but are mechanically fragile. The basic idea of the present invention is to exploit the best features of fibrous ceramic tiles and aerogels. In a composite tile according to the invention, the fibrous ceramic serves as a matrix that mechanically supports the aerogel, while the aerogel serves as a low-conductivity, low-permeability filling that closes what would otherwise be the open pores of the fibrous ceramic. Because the aerogel eliminates or at least suppresses permeation by gas, gas-phase conduction, and convection, the thermal conductivity of such a composite even at

  15. Calcifying Fibrous Pseudotumor of the Esophagus

    Directory of Open Access Journals (Sweden)

    Shou-Wu Lee

    2010-11-01

    Full Text Available Calcifying fibrous pseudotumor is an uncommon lesion and has recently been recognized as a distinctive fibrous lesion. Esophageal calcifying fibrous pseudotumor is extremely rare and, to the best of our knowledge, has never been reported before. A 54-year-old woman underwent upper gastrointestinal endoscopy and endoscopic ultrasound because of intermittent dysphagia. The results showed 1 isoechoic esophageal submucosal tumor over the deep mucosa and submucosal layers, with calcifications inside. The patient underwent tumor excision, and the diagnosis was confirmed by pathological features, with abundant collagen, calcification and inflammatory cell infiltration. She received regular follow-up at the clinic and no evidence of tumor recurrence was found.

  16. [Diagnosis of facial and craniofacial asymmetry].

    Science.gov (United States)

    Arnaud, E; Marchac, D; Renier, D

    2001-10-01

    Craniofacial asymmetry is caused by various aetiologies but clinical examination remains the most important criteria since minor asymmetry is always present. The diagnosis can be confirmed by anthropometric measurements and radiological examinations but only severe asymmetries or asymmetries with an associated functional impairment should be treated. The treatment depends on the cause, and on the time of appearance. Congenital asymmetries might be treated early, during the first year of life if a craniosynostosis is present. Hemifacial microsomia are treated later if there is no breathing impairment. Since the pediatricians have recommended the dorsal position for infant sleeping, an increasing number of posterior flattening of the skull has been appearing, and could be prevented by adequate nursing. Other causes of craniofacial asymmetries are rare and should be adapted to the cause (tumors, atrophies, neurological paralysis, hypertrophies) by a specialized multidisciplinar team.

  17. Modeling of Craniofacial Anatomy, Variation, and Growth

    DEFF Research Database (Denmark)

    Thorup, Signe Strann

    The topic of this thesis is automatic analysis of craniofacial images with respect to changes due to growth and surgery, inter-subject variation and intracranial volume estimation. The methods proposed contribute to the knowledge about specific craniofacial anomalies, as well as provide a tool...... for detailed analyses for clinical and research purposes. Most of the applications in this thesis rely on non-rigid image registration by the means of warping one image into the coordinate system of another image. This warping results in a deformation field that describes the anatomical correspondence between......, thus creating a personalized atlas. The knowledge built into the atlas is e.g. location of anatomical regions and landmarks of importance to surgery planning and evaluation or population studies. With these correspondences, various analyses could be carried out e.g. quantification of growth, inter...

  18. Idiosyncratic Presentation of Cemento-Osseous Dysplasia - An in Depth Analysis Using Cone Beam Computed Tomography.

    Science.gov (United States)

    Chennoju, Sai Kiran; Pachigolla, Ramaswamy; Govada, Vanya Mahitha; Alapati, Satish; Balla, Smitha

    2016-05-01

    Bone dysplasias comprise of a condition where the normal bone is replaced with fibrous tissue. Periapical Cemento-Osseous Dysplasia (PCOD) is a benign fibro-osseous condition where bone tissue is supplanted with fibrous tissue and cementum-like material. This condition affects mostly mandibular anterior region and rarely occurs in the maxilla. PCOD is seen above 30 years of age and has slight female predilection. Generally the teeth related to such lesions appear to be vital and are usually asymptomatic. These lesions are mostly seen during routine radiographic examination whose presentation may vary from complete radiolucency to dense radiopacity. The advent of Cone Beam Computed Tomography (CBCT) has brought a massive change in the field of dentistry which has become an important tool for diagnosis. Hence we hereby present an unusual case of cemento-osseous dysplasia in an unfamiliar location with an atypical presentation. The shape of the pathology was completely idiosyncratic and different from an orthodox lesion of COD, as the lesion was observed to grow out of the palatal surface with a prominent palatal expansion. This case highlights the importance of CBCT in radiographic diagnosis and in evaluating the characteristics of such lesion, which present with high diagnostic dilemma.

  19. Neuroembryology and functional anatomy of craniofacial clefts

    OpenAIRE

    Ewings, Ember L.; Carstens, Michael H.

    2009-01-01

    The master plan of all vertebrate embryos is based on neuroanatomy. The embryo can be anatomically divided into discrete units called neuromeres so that each carries unique genetic traits. Embryonic neural crest cells arising from each neuromere induce development of nerves and concomitant arteries and support the development of specific craniofacial tissues or developmental fields. Fields are assembled upon each other in a programmed spatiotemporal order. Abnormalities in one field can affec...

  20. Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia.

    Science.gov (United States)

    Yamanaka, S; Nakao, Kazumasa; Koyama, N; Isobe, Y; Ueda, Y; Kanai, Y; Kondo, E; Fujii, T; Miura, M; Yasoda, A; Nakao, Kazuwa; Bessho, K

    2017-12-01

    Achondroplasia is the most common genetic form of human dwarfism, characterized by midfacial hypoplasia resulting in occlusal abnormality and foramen magnum stenosis, leading to serious neurologic complications and hydrocephalus. Currently, surgery is the only way to manage jaw deformity, neurologic complications, and hydrocephalus in patients with achondroplasia. We previously showed that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth of long bones and vertebrae and is also a potent stimulator in the craniofacial region, which is crucial for midfacial skeletogenesis. In this study, we analyzed craniofacial morphology in a mouse model of achondroplasia, in which fibroblast growth factor receptor 3 (FGFR3) is specifically activated in cartilage ( Fgfr3 ach mice), and investigated the mechanisms of jaw deformities caused by this mutation. Furthermore, we analyzed the effect of CNP on the maxillofacial area in these animals. Fgfr3 ach mice exhibited midfacial hypoplasia, especially in the sagittal direction, caused by impaired endochondral ossification in craniofacial cartilage and by premature closure of the spheno-occipital synchondrosis, an important growth center in craniomaxillofacial skeletogenesis. We crossed Fgfr3 ach mice with transgenic mice in which CNP is expressed in the liver under the control of the human serum amyloid-P component promoter, resulting in elevated levels of circulatory CNP ( Fgfr3 ach /SAP-Nppc-Tg mice). In the progeny, midfacial hypoplasia in the sagittal direction observed in Fgfr3 ach mice was improved significantly by restoring the thickness of synchondrosis and promoting proliferation of chondrocytes in the craniofacial cartilage. In addition, the foramen magnum stenosis observed in Fgfr3 ach mice was significantly ameliorated in Fgfr3 ach /SAP-Nppc-Tg mice due to enhanced endochondral bone growth of the anterior intraoccipital synchondrosis. These results clearly demonstrate the therapeutic

  1. Imaging findings in craniofacial childhood rhabdomyosarcoma

    International Nuclear Information System (INIS)

    Freling, Nicole J.M.; Rijn, Rick R. van; Merks, Johannes H.M.; Saeed, Peerooz; Balm, Alfons J.M.; Bras, Johannes; Pieters, Bradley R.; Adam, Judit A.

    2010-01-01

    Rhabdomyosarcoma (RMS) is the commonest paediatric soft-tissue sarcoma constituting 3-5% of all malignancies in childhood. RMS has a predilection for the head and neck area and tumours in this location account for 40% of all childhood RMS cases. In this review we address the clinical and imaging presentations of craniofacial RMS, discuss the most appropriate imaging techniques, present characteristic imaging features and offer an overview of differential diagnostic considerations. Post-treatment changes will be briefly addressed. (orig.)

  2. Etiology and treatment in craniofacial fractures

    Directory of Open Access Journals (Sweden)

    Mihail D. L.

    2017-08-01

    Full Text Available Introduction. Facial trauma remains an important pathology in present days because of its effects. Facial deformities and functional alteration affect patient’s life quality and his society reinsertion. First evaluation has to be thorough to avoid any secondary complications .This type of pathology involves a pluridisciplinary approach: ENT, OMF, neurosurgeon,plastic surgeon,intensive care doctor. Healing implies complex biological process .A healed bone is capable to perform normal duties without titanium plates help. Osteosynthesis allows a faster and correct recovery. Doctors need to possess profound knowledge with regard to anatomy and physiology and to be acquainted with the reconstructive methods used in craniofacial surgery. Material and methods. This study evaluates craniofacial trauma patients who suffered different types of surgical interventions at the ENT Clinic and OMF Department of Constanta County Hospital since January the 1st 2013 until June the 1st 2017. Results. The group involves 133 cases, both genders and all ages. These 2 elements play an important role in this pathology because of the fact that the vast majority of patients are young active males. The sex ratio in the study is 7:1. In most of cases, craniofacial traumas appear after aggressions and car accidents. The nose and mandibular are fractured in a higher percentage in comparison to other parts of facial structures. Discussions. Important and sensitive structures located at this level increase the risk of possible important and definitive damages.

  3. Neuroembryology and functional anatomy of craniofacial clefts

    Directory of Open Access Journals (Sweden)

    Ewings Ember

    2009-10-01

    Full Text Available The master plan of all vertebrate embryos is based on neuroanatomy. The embryo can be anatomically divided into discrete units called neuromeres so that each carries unique genetic traits. Embryonic neural crest cells arising from each neuromere induce development of nerves and concomitant arteries and support the development of specific craniofacial tissues or developmental fields. Fields are assembled upon each other in a programmed spatiotemporal order. Abnormalities in one field can affect the shape and position of developing adjacent fields. Craniofacial clefts represent states of excess or deficiency within and between specific developmental fields. The neuromeric organization of the embryo is the common denominator for understanding normal anatomy and pathology of the head and neck. Tessier′s observational cleft classification system can be redefined using neuroanatomic embryology. Reassessment of Tessier′s empiric observations demonstrates a more rational rearrangement of cleft zones, particularly near the midline. Neuromeric theory is also a means to understand and define other common craniofacial problems. Cleft palate, encephaloceles, craniosynostosis and cranial base defects may be analyzed in the same way.

  4. Susuks (charm needles) in the craniofacial region

    International Nuclear Information System (INIS)

    Nambiar, P.; Ibrahim, N.; Tandjung, Y.R.M.; Shanmuhasuntharam, P.

    2008-01-01

    We conducted a study to determine the numbers of susuks (charm needles) and their distribution in the craniofacial region of susuk wearers, and the sex, racial affiliation, and age of the wearers. In addition, we sought to determine whether the presence of susuks posed any potential hazard to patients undergoing magnetic resonance imaging (MRI). We studied various radiographs of 33 susuk wearers (age range, 33-69 years) and investigated the most common sites of insertion in the craniofacial region. A susuk was also suspended inside a 1.5-T MRI machine to determined whether it was attracted by the machine's magnet. The largest number of susuks that we observed in the craniofacial region was 39 pins, and susuks were particularly numerous in Malay Muslim women. Other sites with susuks were the maxillofacial region (except the temporomandibular region) and the forehead. The susuks showed no ferromagnetic characteristics. As susuks are made from gold, they are generally biocompatible with human tissue and do not cause problems to their wearers. Gold and the other minor metal constituents found in susuks have no ferromagnetic characteristics and therefore pose no hazard to patients undergoing MRI. (author)

  5. Postoperative infections in craniofacial reconstructive procedures.

    Science.gov (United States)

    Fialkov, J A; Holy, C; Forrest, C R; Phillips, J H; Antonyshyn, O M

    2001-07-01

    The rate of, and possible risk factors for, postoperative craniofacial infection is unclear. To investigate this problem, we reviewed 349 cases of craniofacial skeletal procedures performed from 1996 to 1999 at our institution. Infection rate was determined and correlated with the use of implants, operative site, and cause of deformity. The inclusion criteria consisted of all procedures requiring autologous or prosthetic implantation in craniofacial skeletal sites, as well as all procedures involving bone or cartilage resection, osteotomies, debridement, reduction and/or fixation. Procedures that did not involve bone or cartilage surgery were excluded. The criteria for diagnosis of infection included clinical confirmation and one or more of 1) intravenous or oral antibiotic treatment outside of the prophylactic surgical regimen; 2) surgical intervention for drainage, irrigation, and or debridement; and 3) microbiological confirmation. Among the 280 surgical cases that fit the inclusion criteria and had complete records, there were 23 cases of postoperative infection (8.2%). The most common site for postoperative infection was the mandible (infection rate = 16.7%). Multiple logistic regression analysis revealed gunshot wound to be the most significant predictor of postoperative infection. Additionally, porous polyethylene implantation through a transoral route was correlated with a significant risk of postoperative infection.

  6. Nanomaterials for Craniofacial and Dental Tissue Engineering.

    Science.gov (United States)

    Li, G; Zhou, T; Lin, S; Shi, S; Lin, Y

    2017-07-01

    Tissue engineering shows great potential as a future treatment for the craniofacial and dental defects caused by trauma, tumor, and other diseases. Due to the biomimetic features and excellent physiochemical properties, nanomaterials are of vital importance in promoting cell growth and stimulating tissue regeneration in tissue engineering. For craniofacial and dental tissue engineering, the frequently used nanomaterials include nanoparticles, nanofibers, nanotubes, and nanosheets. Nanofibers are attractive for cell invasion and proliferation because of their resemblance to extracellular matrix and the presence of large pores, and they have been used as scaffolds in bone, cartilage, and tooth regeneration. Nanotubes and nanoparticles improve the mechanical and chemical properties of scaffold, increase cell attachment and migration, and facilitate tissue regeneration. In addition, nanofibers and nanoparticles are also used as a delivery system to carry the bioactive agent in bone and tooth regeneration, have better control of the release speed of agent upon degradation of the matrix, and promote tissue regeneration. Although applications of nanomaterials in tissue engineering remain in their infancy with numerous challenges to face, the current results indicate that nanomaterials have massive potential in craniofacial and dental tissue engineering.

  7. Craniofacial abnormalities among patients with Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  8. Solitary Fibrous Tumor of the Uterus

    Directory of Open Access Journals (Sweden)

    Po-Wei Chu

    2006-12-01

    Conclusion: The behavior of solitary fibrous tumors arising from the uterus is difficult to evaluate; therefore, complete surgical excision featuring clear margins and comprehensive follow-up is recommended.

  9. Progressive pseudorheumatoid dysplasia

    International Nuclear Information System (INIS)

    Mampaey, S.; De Schepper, A.; Vanhoenacker, F.; Boven, K.; Hul, W. van

    2000-01-01

    A rare case of progressive pseudorheumatoid dysplasia (PPD) in a 9-year-old girl is presented. Clinically, chronic painless swollen joints, accompanied by progressive motion restriction and progressive walking difficulties, were found. Radiologically, there was enlargement of the epimetaphyseal portions of the large joints, metacarpal heads, and phalanges, and generalized platyspondyly with irregular delineation of the endplates of the vertebral bodies. The radioclinical features at the peripheral joints were originally misdiagnosed as juvenile rheumatoid arthritis (JRA), and the structural spinal abnormalities were neglected and interpreted as Scheuermann's disease. However, the absence of active inflammatory parameters argues against JRA, whereas the low age of onset of the irregularities at the vertebral endplates is an argument against the diagnosis of Scheuermann's disease. The combination of the dysplastic abnormalities of the spine, with platyspondyly and Scheuermann-like lesions at an unusually low age of onset, and radiological features mimicking JRA of the peripheral joints, is the clue to the diagnosis of this rare autosomal-recessive disease. This case is the first to document the MRI features of PPD of the spine. (orig.)

  10. Ureaplasma and bronchopulmonary dysplasia.

    Science.gov (United States)

    Gancia, Paolo; Delogu, Antonio; Pomero, Giulia

    2014-03-01

    Advances in neonatal intensive care have greatly improved survival rates for children born in a very early stage of lung development (i.e. less than 26 weeks of gestation). In these premature babies, even low levels of oxygen and methods of minimally invasive ventilation may disrupt the growth of the distal airways, a condition described as "new" bronchopulmonary dysplasia (BPD). Ureaplasma infection can occur in utero or in the perinatal period in premature infants, in some of which the infection with these organisms triggers an important lung pro-inflammatory and pro-fibrotic response, and may increase the risk of developing BPD. The inflammation may be worsened by exposure to oxygen and mechanical ventilation. At present, clinical studies have not clarified the role of Ureaplasma in the pathogenesis of BPD and there is insufficient evidence to determine whether antibiotic treatment of Ureaplasma has influence on the development of BPD and its comorbidities. Future research in the context of well-designed and controlled clinical trials of adequate statistical power should focus on how to determine whether the treatment of Ureaplasma decreases lung inflammation, reduces rates of BPD, and improves long-term neurodevelopment. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  11. Predictors of mental health in adults with congenital craniofacial conditions attending the Australian craniofacial unit.

    Science.gov (United States)

    Roberts, R M; Mathias, J L

    2013-07-01

    Objective : Adults with craniofacial conditions experience more psychosocial problems than adults in the general population, but little is known about the factors that render a person more or less susceptible to these problems. Guided by research on adults with other conditions that affect appearance, this study examined predictors of psychosocial outcome in adults with craniofacial conditions. Design : Single-sample cross-sectional design. Setting : The Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, one of the main craniofacial treatment centers in Australia. Participants : Adults (N  =  93; 36.9% of the potential sample) with congenital craniofacial conditions (excluding cleft lip and/or cleft palate) who were treated in the Australian Craniofacial Unit. Main Outcome Measures : All participants completed measures assessing anxiety, depression, and quality of life (Hospital Anxiety and Depression Scale, Short-Form Health Survey) and variables predicted to affect these outcomes (SF-36 Health Survey - Multidimensional Scale of Perceived Social Support, Rosenberg Self-Esteem Scale, Cleft Satisfaction Profile, Brief Fear of Negative Evaluation Scale, Derriford Appearance Scale). Results : Multiple regression analyses revealed that anxiety was predicted by social support, self-esteem, and fear of negative evaluation, while depression was predicted by self-esteem and social support. Physical quality of life was not predicted by any of the measures. Satisfaction with appearance, gender, age, and education were not related to outcome. Conclusions : Interventions designed to increase perceived social support and self-esteem and reduce fear of negative evaluation appear to be indicated and may assist in establishing a causal relationship between these variables.

  12. Top five craniofacial techniques for training in plastic surgery residency.

    Science.gov (United States)

    Fan, Kenneth; Kawamoto, Henry K; McCarthy, Joseph G; Bartlett, Scott P; Matthews, David C; Wolfe, S Anthony; Tanna, Neil; Vu, Minh-Thien; Bradley, James P

    2012-03-01

    Despite increasing specialization of craniofacial surgery, certain craniofacial techniques are widely applicable. The authors identified five such craniofacial techniques and queried American Society of Plastic Surgeons members and plastic surgery program directors regarding their comfort level with the procedures and their opinion on resident training for these selected procedures. First, a select group of senior craniofacial surgeons discussed and agreed on the top five procedures. Second, active American Society of Plastic Surgeons were surveyed regarding their opinion on training and their comfort level with each procedure. Third, plastic surgery residency program directors were studied to see which of the top five procedures are taught as part of the plastic surgery residency curriculum. The top five widely applicable craniofacial procedures are technically described and include the following: (1) cranial or iliac bone graft for nasal reconstruction, (2) perialar rim bone graft, (3) lateral canthopexy, (4) osseous genioplasty, and (5) bone graft harvest for orbital floor defects. For practicing plastic surgeons, comfort level in all procedures increased with advancing years in practice (except those with 75 percent), especially those with craniofacial fellowship training, felt competent in all procedures except osseous genioplasty (53 percent). Plastic surgery program directors agreed that all top five procedures should be mastered by graduation. Although program directors felt that all five selected craniofacial procedures should be taught and mastered during residency training, plastic surgeons without craniofacial fellowship training were less comfortable with the techniques. Residency training goals should include competence in core craniofacial techniques.

  13. Modelling and analysing oriented fibrous structures

    International Nuclear Information System (INIS)

    Rantala, M; Lassas, M; Siltanen, S; Sampo, J; Takalo, J; Timonen, J

    2014-01-01

    A mathematical model for fibrous structures using a direction dependent scaling law is presented. The orientation of fibrous nets (e.g. paper) is analysed with a method based on the curvelet transform. The curvelet-based orientation analysis has been tested successfully on real data from paper samples: the major directions of fibrefibre orientation can apparently be recovered. Similar results are achieved in tests on data simulated by the new model, allowing a comparison with ground truth

  14. Spondylometaphyseal dysplasia with hypercalcemia. [Radiological studies

    Energy Technology Data Exchange (ETDEWEB)

    Bagga, A.; Srivastava, R.N.; Gupta, S.; Gupta, A.

    1989-08-01

    Kozlowski's spondylometaphyseal dysplasia is characterised by short-trunk dwarfism, platyspondyly, metaphyseal dysplasia and retarded bone age. We report an association of this syndrome with asymptomatic, hypocalciuric hypercalcemia, a previously undocumented finding. (orig.).

  15. Ectodermal dysplasia: a genetic review.

    Science.gov (United States)

    Deshmukh, Seema; Prashanth, S

    2012-09-01

    Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.

  16. Histochemical Analysis of Renal Dysplasia with Ureteral Atresia

    International Nuclear Information System (INIS)

    Kawate, Toyoko; Kawamura, Ryuki; Uchida, Takenori; Takahashi, Kyosuke; Hasegawa, Tomohiro; Futamata, Haruo; Katoh, Ryohei; Takeda, Sen

    2009-01-01

    Unilateral small kidney with ureteral obstruction was discovered in a 74-year-old female cadaver during an anatomical dissection course. In order to elucidate the histogenesis of renal dysplasia, we carried out histochemical and immunohistochemical analyses. On macroscopic view, the kidney was approximately 3 cm in length, 2 cm in width and weighed only 9 g. Although the ureter ran from the renal hilus to the bladder, its width was under 2 mm. The renal parenchyma was extremely thin and there was a large congested vein in the renal sinus. On microscopic examination of the kidney, we observed that numerous developing renal tubules had cytokeratin-positive epithelia, most of which were surrounded by concentric fibrosis. However, we could not detect any structures resembling the collecting duct, renal tubules, renal pelvis, or glomeruli. The concentric mesencymal fibrous tissue surrounding the immature renal tubules contained the smooth muscles that were positive for h-caldesmon. Serial sections of the ureter revealed several small and discontinuous lacunae lined by cuboidal and transitional epithelium, which did not constitute a patent lumen through the bladder. This case is a rare case of renal dysplasia with defect in recanalization of the ureteral bud during the early developmental stage

  17. [Two cases of Kniest dysplasia--ocular manifestations].

    Science.gov (United States)

    Kagotani, Y; Takao, K; Nomura, K; Okubo, K

    1995-03-01

    We report ocular findings from 2 children with Kniest dysplasia. Both eyes of the 2 patients had abnormal long axial length causing high myopia, and vitreoretinal degeneration. The vitreous cavity of case 1 (a 15-year-old boy) which contained fibrous clouded membranous structures floating in the retrolental space and dense opacity at the temporal-inferior portion, was optically empty. Case 2 (a 7-year-old boy) had cortical and posterior subcapsular opacity of the lens, and also veil-like vitreous opacity in the periphery. Their common retinal changes were characterized as perivascular lattice degeneration and white without pressure in various degrees. They have not yet shown cataract or retinal detachment which needs surgical treatment, but close ophthalmological follow up will be necessary for their favorable prognosis. The literature on vitreoretinal degeneration such as Wagner's disease or Stickler syndrome may indicate the relation of Kniest dysplasia to similar diseases. Because they might have different clinical courses and visual prognosis according to the original biosynthetic disorders, we emphasized the importance of orthopedic diagnosis regarding such vitreoretinal degeneration with constitutional bone diseases.

  18. Chondroectodermal dysplasia: a rare syndrome.

    Directory of Open Access Journals (Sweden)

    Dana Tahririan

    2014-06-01

    Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

  19. Thanatophoric Dysplasia: A Rare Entity

    Directory of Open Access Journals (Sweden)

    N.S. Naveen

    2011-05-01

    Full Text Available Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually made with the ultrasonography in the second trimester. In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature.

  20. Managing Children with Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    A. A. Baranov

    2016-01-01

    Full Text Available Bronchopulmonary dysplasia is one of the most significant early childhood chronic respiratory diseases. The article features modern approaches to preventing, diagnosing and treating broncho-pulmonary dysplasia, as well as ways of preventing complications and undesirable disease outcomes in patients older than 3 years. Members of professional associations — Union of Pediatricians of Russia and Russian Association of Perinatal Medicine Specialists — have summarized the experience of managing this category of patients at leading Russian pediatric centers according to the principles of evidence-based medicine and have provided scientific and practical data corresponding to the world level of knowledge with regard to the present problem.

  1. Rare craniofacial clefts in Ibadan | Iyun | Nigerian Journal of Plastic ...

    African Journals Online (AJOL)

    Introduction: Congenital craniofacial clefts are anatomical distortions of the face and cranium with deficiencies of excess of tissue in a linear pattern. The exact incidence of craniofacial clefts is unknown because cases are rare and series tend to be small. The aim of this study is to document our experience with congenital ...

  2. Craniofacial dysmorphology: Studies in honor of Samuel Pruzansky

    International Nuclear Information System (INIS)

    Cohen, M.M.; Rollnick, B.R.

    1985-01-01

    This book contains 31 chapters. Some of the chapter titles are: Regional Specification of Cell-Specific Gene Expression During Craniofacial Development; Timing Cleft Palate Closure - Age Should Not Be the Sole Determinant; Excess of Parental Non-Righthandedness in Children with Right-Sided Cleft Lip: A Preliminary Report; and The Application of Roentgencephalometry to the Study of Craniofacial Anomalies

  3. Orthodontics and foetal pathology: a personal view on craniofacial patterning

    DEFF Research Database (Denmark)

    Kjær, Inger

    2009-01-01

    This article summarizes the essentials of studies on the craniofacial skeleton performed over 17 years. It presents data from research into foetal pathology resulting in new views on craniofacial patterning and/or fields for further discussion. The fields described cover all areas seen on profile...

  4. OCT imaging of craniofacial anatomy in xenopus embryos (Conference Presentation)

    Science.gov (United States)

    Deniz, Engin; Jonas, Stephan M.; Griffin, John; Hooper, Michael C.; Choma, Michael A.; Khokha, Mustafa K.

    2016-03-01

    The etiology of craniofacial defects is incompletely understood. The ability to obtain large amounts of gene sequence data from families affected by craniofacial defects is opening up new ways to understand molecular genetic etiological factors. One important link between gene sequence data and clinical relevance is biological research into candidate genes and molecular pathways. We present our recent research using OCT as a nondestructive phenotyping modality of craniofacial morphology in Xenopus embryos, an important animal model for biological research in gene and pathway discovery. We define 2D and 3D scanning protocols for a standardized approach to craniofacial imaging in Xenopus embryos. We define standard views and planar reconstructions for visualizing normal anatomy and landmarks. We compare these views and reconstructions to traditional histopathology using alcian blue staining. In addition to being 3D, nondestructive, and having much faster throughout, OCT can identify craniofacial features that are lost during traditional histopathological preparation. We also identify quantitative morphometric parameters to define normative craniofacial anatomy. We also note that craniofacial and cardiac defects are not infrequently present in the same patient (e.g velocardiofacial syndrome). Given that OCT excels at certain aspects of cardiac imaging in Xenopus embryos, our work highlights the potential of using OCT and Xenopus to study molecular genetic factors that impact both cardiac and craniofacial development.

  5. Dentomaxillofacial characteristics of ectodermal dysplasia.

    Science.gov (United States)

    Nakayama, Yumiko; Baba, Yoshiyuki; Tsuji, Michiko; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Moriyama, Keiji

    2015-02-01

    The aim of this retrospective hospital-based study was to elucidate the dentomaxillofacial characteristics of ectodermal dysplasia. Six Japanese individuals (one male and five female; age range, 12.7-27.2 years) underwent comprehensive examinations, including history recording, cephalometric analysis, panoramic radiography, and analysis of dental models. All the subjects had two or more major manifestations for clinical diagnosis of ectodermal dysplasia (e.g., defects of hair, teeth, nails, and sweat glands). They presented hypodontia (mean number of missing teeth, 9.5; range, 5-14), especially in the premolar region, and enamel dysplasia. Five subjects had bilateral molar occlusion, whereas one subject had unilateral molar occlusion. The common skeletal features were small facial height, maxillary hypoplasia, counterclockwise rotation of the mandible, and mandibular protrusion. Interestingly, the maxillary first molars were located in higher positions and the upper anterior facial height was smaller than the Japanese norm. The results suggest that vertical and anteroposterior maxillary growth retardation, rather than lack of occlusal support due to hypodontia, leads to reduced anterior facial height in individuals with ectodermal dysplasia. © 2014 Japanese Teratology Society.

  6. Congenital fibrous hamartoma of the knee

    International Nuclear Information System (INIS)

    Arioni, Cesare; Bellini, Carlo; Risso, Francesco Maria; Scopesi, Fabio; Serra, Giovanni; Oddone, Mauro; Toma, Paolo; Nozza, Paolo

    2006-01-01

    A full-term male infant presented at birth with a hard swelling of the left knee. The lemon-sized lesion was fixed to the underlying knee muscles, while the overlying skin was stretched and shiny; there was no bruit. Radiography, sonography and MRI suggested a soft-tissue tumour. After surgical excision, histology showed the presence of fibrous and mesenchymal tissue, with mature adipose tissue. Fibrous hamartoma of infancy was diagnosed. Among soft-tissue tumours, fibrous hamartoma of infancy is a rare and benign lesion, occurring in the first 2 years of life. The tumour mainly affects the trunk, axilla, and upper extremities. This infant had unique involvement of the knee. The treatment of choice is local excision. (orig.)

  7. Congenital fibrous hamartoma of the knee

    Energy Technology Data Exchange (ETDEWEB)

    Arioni, Cesare; Bellini, Carlo; Risso, Francesco Maria; Scopesi, Fabio; Serra, Giovanni [University of Genoa, Neonatal Pathology Service, Department of Paediatrics, Institute G. Gaslini, Genoa (Italy); Oddone, Mauro; Toma, Paolo [Institute G. Gaslini, Radiology Service, Genoa (Italy); Nozza, Paolo [Institute G. Gaslini, U. O. di Anatomia Patologica, Genoa (Italy)

    2006-05-15

    A full-term male infant presented at birth with a hard swelling of the left knee. The lemon-sized lesion was fixed to the underlying knee muscles, while the overlying skin was stretched and shiny; there was no bruit. Radiography, sonography and MRI suggested a soft-tissue tumour. After surgical excision, histology showed the presence of fibrous and mesenchymal tissue, with mature adipose tissue. Fibrous hamartoma of infancy was diagnosed. Among soft-tissue tumours, fibrous hamartoma of infancy is a rare and benign lesion, occurring in the first 2 years of life. The tumour mainly affects the trunk, axilla, and upper extremities. This infant had unique involvement of the knee. The treatment of choice is local excision. (orig.)

  8. Craniofacial anthropometry in newborns of Sikkimese origin.

    Science.gov (United States)

    Sinha, P; Tamang, B K; Chakraborty, S

    2014-06-01

    Head and face dimensions vary according to race and geographical zone. Hereditary factors also greatly affect the size and shape of the head. There are important medical applications of craniofacial data specific to different racial and ethnic groups. Various cranial and facial anthropometric parameters were assessed in singleton, healthy, full-term newborns of Sikkimese origin in a tertiary care hospital in Sikkim, India. The data were then analysed to determine statistically significant differences between sexes. Forty-five newborns were included in the study. Both male and female newborns were observed to be hyperbrachycephalic and hyperleptoprosopic. The only significant difference between the sexes was in commissural length, which was observed to be greater in male newborns. Craniofacial parameters in Sikkimese newborns vary in comparison with those of other newborns from around the world. Larger studies are needed in order to reveal sex-related variations. Similar studies on various racial groups in North-East India are needed to establish standards for populations with East Asian features.

  9. A case of intracranial malignant fibrous histiocytoma

    Directory of Open Access Journals (Sweden)

    Amir Hossein Sarrami

    2011-01-01

    Full Text Available We describe a case of intracranial malignant fibrous histiocytoma which had infiltrated pons, cerebellum and basal surface of left temporal lobe without any visible mass. The patient presented with a sudden loss of consciousness and vomiting. Clinical findings, laboratory tests, imaging and examination of the cerebrospinal fluid tended to establish the diagnosis of an infectious condition than a malignancy. Without any response to the antibiotics and with a progressive deterioration of neurologic and mental condition, the patient died after 20 days. In the autopsy, histological and immunohistochemical study of the brain revealed the diagnosis of malignant fibrous histiocytoma (MFH.

  10. Fibrous Protein Structures: Hierarchy, History and Heroes.

    Science.gov (United States)

    Squire, John M; Parry, David A D

    2017-01-01

    During the 1930s and 1940s the technique of X-ray diffraction was applied widely by William Astbury and his colleagues to a number of naturally-occurring fibrous materials. On the basis of the diffraction patterns obtained, he observed that the structure of each of the fibres was dominated by one of a small number of different types of molecular conformation. One group of fibres, known as the k-m-e-f group of proteins (keratin - myosin - epidermin - fibrinogen), gave rise to diffraction characteristics that became known as the α-pattern. Others, such as those from a number of silks, gave rise to a different pattern - the β-pattern, while connective tissues yielded a third unique set of diffraction characteristics. At the time of Astbury's work, the structures of these materials were unknown, though the spacings of the main X-ray reflections gave an idea of the axial repeats and the lateral packing distances. In a breakthrough in the early 1950s, the basic structures of all of these fibrous proteins were determined. It was found that the long protein chains, composed of strings of amino acids, could be folded up in a systematic manner to generate a limited number of structures that were consistent with the X-ray data. The most important of these were known as the α-helix, the β-sheet, and the collagen triple helix. These studies provided information about the basic building blocks of all proteins, both fibrous and globular. They did not, however, provide detailed information about how these molecules packed together in three-dimensions to generate the fibres found in vivo. A number of possible packing arrangements were subsequently deduced from the X-ray diffraction and other data, but it is only in the last few years, through the continued improvements of electron microscopy, that the packing details within some fibrous proteins can now be seen directly. Here we outline briefly some of the milestones in fibrous protein structure determination, the role of the

  11. Craniofacial morphology in unoperated infants with isolated cleft palate. A cephalometric analysis in three projections

    DEFF Research Database (Denmark)

    Hermann, N.V.; Kreiborg, S.; Jensen, B.L.

    58th Annual Meeting of the American Cleft Palate-Craniofacial Association, Minneapolis, Craniofacial morphology, unoperated infants, isolated cleft palate, cephalometric analysis, three projections......58th Annual Meeting of the American Cleft Palate-Craniofacial Association, Minneapolis, Craniofacial morphology, unoperated infants, isolated cleft palate, cephalometric analysis, three projections...

  12. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    Science.gov (United States)

    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.

  13. 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.

  14. Cervical column morphology and craniofacial profiles in monozygotic twins.

    Science.gov (United States)

    Sonnesen, Liselotte; Pallisgaard, Carsten; Kjaer, Inger

    2008-02-01

    Previous studies have described the relationships between cervical column morphology and craniofacial morphology. The aims of the present study were to describe cervical column morphology in 38 pairs of adult monozygotic (MZ) twins, and compare craniofacial morphology in twins with fusions with craniofacial morphology in twins without fusion. Visual assessment of cervical column morphology and cephalometric measurements of craniofacial morphology were performed on profile radiographs. In the cervical column, fusion between corpora of the second and third vertebrae was registered as fusion. In the twin group, 8 twin pairs had fusion of the cervical column in both individuals within the pair (sub-group A), 25 pairs had no fusions (subgroup B), and in 5 pairs, cervical column morphology was different within the pair (subgroup C), as one twin had fusion and the other did not. Comparison of craniofacial profiles showed a tendency to increased jaw retrognathia, larger cranial base angle, and larger mandibular inclination in subgroup A than in subgroup B. The same tendency was observed within subgroup C between the individual twins with fusion compared with those without fusion. These results confirm that cervical fusions and craniofacial morphology may be interrelated in twins when analysed on profile radiographs. The study also documents that differences in cervical column morphology can occur in individuals within a pair of MZ twins. It illustrates that differences in craniofacial morphology between individuals within a pair of MZ twins can be associated with cervical fusion.

  15. Psychosocial functioning in adults with congenital craniofacial conditions.

    Science.gov (United States)

    Roberts, R M; Mathias, J L

    2012-05-01

    To examine the psychosocial functioning of adults with congenital craniofacial conditions relative to normative data. Single sample cross-sectional design. The Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, which is one of the main craniofacial treatment centers in Australia. Adults (N  =  93) with congenital craniofacial conditions (excluding cleft lip/palate) who were treated in the Australian Craniofacial Unit. All participants completed self-report scales assessing health-related quality of life (SF-36); life satisfaction, anxiety, and depression (HADS); self-esteem (Rosenberg); appearance-related concerns; perceived social support; and social anxiety. Overall, participants were very similar in psychosocial function to the general population. However, adults with craniofacial conditions were less likely to be married and have children (females), were more likely to be receiving a disability pension, and reported more appearance-related concerns and less social support from friends. They also reported more limitations in both their social activities, due to physical or emotional problems, and usual role activities, because of emotional problems, as well as poorer mental health. These results give cause to be very positive about the long-term outcomes of children who are undergoing treatment for craniofacial conditions, while also identifying specific areas that interventions could target.

  16. MRI of intracranial meningeal malignant fibrous histiocytoma

    International Nuclear Information System (INIS)

    Ogino, A.; Ochi, M.; Hayashi, K.; Hirata, K.; Hayashi, T.; Yasunaga, A.; Shibata, S.

    1996-01-01

    We describe the CT and MRI findings in a patient with primary intracranial meningeal malignant fibrous histiocytoma (MFH). CT delineated the anatomical relations and MRI aided in tissue characterisation. To our knowledge, this is the first report describing the MRI findings in primary intracranial meningeal MFH. (orig.). With 1 fig

  17. Radon adsorption in fibrous carbon sorbents

    International Nuclear Information System (INIS)

    Anshakov, O.M.; Kish, A.O.; Chudakov, V.A.; Matvejchuk, S.V.; Sokolovskij, A.S.; Ugolev, I.I.

    2006-01-01

    Radon sorption in woven fibrous sorbents 'AUT-M' and 'Busofit' and nonwoven fiber in the temperature range 0-50 degrees centigrade was studied. Adsorption heat of radon from the ambient air in different types of carbon fiber was determined. (authors)

  18. Steam Reformer With Fibrous Catalytic Combustor

    Science.gov (United States)

    Voecks, Gerald E.

    1987-01-01

    Proposed steam-reforming reactor derives heat from internal combustion on fibrous catalyst. Supplies of fuel and air to combustor controlled to meet demand for heat for steam-reforming reaction. Enables use of less expensive reactor-tube material by limiting temperature to value safe for material yet not so low as to reduce reactor efficiency.

  19. Three-dimensional cranio-facial computed tomography

    International Nuclear Information System (INIS)

    Pozzi Muccelli, R.; Stagul, F.; Pozzi Muccelli, F.; Zuiani, C.; Smathers, R.

    1986-01-01

    Computed tomography allows today to reconstruct three-dimensional (eD) images fram axial scans. The authors report their experience in cranio-facial pathology achived in two Departments of Radiology (University of Trieste, Italy and University of Standford, California). 3D images have been realized using two different softwares, one of which allows to reconstruct both soft tissue and bone structures. The application in maxillo-facial traumas, cranio-facial malformations and head tumours are disscussed. 3D images turned out to be very useful for the optimal visualization and for the spatial demostration of the lesion and have potential applications in cranio-facial surgery and radiotherapy

  20. Three-dimensional cranio-facial computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Pozzi Muccelli, R; Stagul, F; Pozzi Muccelli, F; Zuiani, C; Smathers, R

    1986-01-01

    Computed tomography allows today to reconstruct three-dimensional (eD) images fram axial scans. The authors report their experience in cranio-facial pathology achived in two Departments of Radiology (University of Trieste, Italy and University of Standford, California). 3D images have been realized using two different softwares, one of which allows to reconstruct both soft tissue and bone structures. The application in maxillo-facial traumas, cranio-facial malformations and head tumours are disscussed. 3D images turned out to be very useful for the optimal visualization and for the spatial demostration of the lesion and have potential applications in cranio-facial surgery and radiotherapy.

  1. Skull infarction in a patient with malignant fibrous histiocytoma.

    Science.gov (United States)

    Nagle, C E; Morayati, S J; LeDuc, M A

    1987-09-01

    The authors describe a case of a skull infarction initially suspected to be an isolated, remote metastasis in a patient diagnosed with soft tissue malignant fibrous histiocytoma. Osseous malignant fibrous histiocytoma has been reported to occur within a bone infarction but the presence of a benign bone infarction remote from a soft tissue malignant fibrous histiocytoma has not been reported previously. Bone infarctions and malignant fibrous histiocytomas are briefly reviewed.

  2. Complex orthopaedic management of patients with skeletal dysplasias

    Directory of Open Access Journals (Sweden)

    A. G. Baindurashvili

    2014-01-01

    Full Text Available Skeletal dysplasias are challenging for diagnostics and treatment. We present a series of fifteen patients with different forms of skeletal dysplasias with age ranged from 6 to 17 years with variable clinical presentations managed as a part of the project of scientific cooperation between Turner Paediatric Orthopaedic Institute and Orthopaedic Hospital Vienna-Speising. The spectrum of diagnoses included multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, metaphyseal dysplasia, spondylometaphyseal dysplasia, Stickler syndrome, Kniest dysplasia, and anauxetic dysplasia. Complex treatment, which included axial correction and juxta-articular realignment, was performed as a single-stage, or consecutive surgery. Surgical techniques included corrective osteotomies with internal fixation, guided growth technique and external fixation devices. Best results (full axial correction, normal alignment of the joint were achieved in 8 patients, including 2 patients with metaphyseal dysplasia, 2 patients with multiple epyphyseal dysplasia, 2 patients with spondyloepyphyseal dysplasia, patient with Stickler syndrome and patient with spondylometaphyseal dysplasia. Good results (partial correction at the present time were seen in 4 patients (2 patients with Kniest dysplasia, 1 - with multiple epyphyseal dysplasia and 1 - with anauxetic dysplasia. Satisfactory results (non-progressive condition in previous progression were obtained in 2 patients with diastrophic dysplasia, and poor results (progression of the deformity - in 1 patient with diastrophic dysplasia. Positive results in most of the cases of our series make promising future for usage of complex approach for orthopedic management of children with skeletal dysplasias; advanced international cooperation is productive and helpful for diagnostics and management of rare diseases.

  3. Cleidocranial dysplasia: a case report

    International Nuclear Information System (INIS)

    Kim, Jae Duk; Lee, Chang Yul; You, Choong Hyun

    2004-01-01

    Cleidocranial dysplasia is a rare and autosomal dominant disorder characterized by aplasia or hypoplasia of the clavicles, an open fontanelle, dental abnormalities, and short stature. A 17-year-old female who presented with short stature and subsequent delay in eruption of permanent teeth is described. she showed the abnormal hypermobility of the shoulder, ocular hypertelorism and concave nasal bridge. Radiographs revealed the underdeveloped maxilla, defect of the cranium in the fontanelle region, and aplasia of the clavicles. Characteristically, panoramic view revealed near parallel-sided borders of the ascending ramus and downward curvature of the zygomatic arch with hypoplasia. The prolonged retention of deciduous teeth with delayed eruption of permanent teeth and multiple embedded supernumerary teeth were striking. Radiographic and clinical investigations revealed Cleidocranial dysplasia.

  4. Cleidocranial dysplasia: a case report

    International Nuclear Information System (INIS)

    Han, Jin Won

    2005-01-01

    Cleidocranial dysplasia is a rare, autosomal dominant congenital disorder. A 12-year-old female visited with chief complaint of unerupted permanent teeth. Also her father showed severe class III malocclusion. The extraoral radiography and computed tomography showed delayed closure of the cranial sutures and underdevelopment of maxilla, maxillary sinuses, and frontal sinus. Both clavicles were underdeveloped and thoracic rib cage was bell-shaped. Both zygomatic process appeared as hypoplastic feature. There were many unerupted permanent and supernumerary teeth in the maxilla and mandible. We examined location and number of the unerupted teeth using 3D CT. Finally we could conclude this case was cleidocranial dysplasia based on the clinico-radiologic findings.

  5. [Bronchopulmonary dysplasia: definitions and classifications].

    Science.gov (United States)

    Sánchez Luna, M; Moreno Hernando, J; Botet Mussons, F; Fernández Lorenzo, J R; Herranz Carrillo, G; Rite Gracia, S; Salguero García, E; Echaniz Urcelay, I

    2013-10-01

    Bronchopulmonary dysplasia is the most common sequelae related to very low birth weight infants, mostly with those of extremely low birth weight. Even with advances in prevention and treatment of respiratory distress syndrome associated with prematurity, there is still no decrease in the incidence in this population, although a change in its clinical expression and severity has been observed. There are, however, differences in its frequency between health centres, probably due to a non-homogeneously used clinical definition. In this article, the Committee of Standards of the Spanish Society of Neonatology wishes to review the current diagnosis criteria of bronchopulmonary dysplasia to reduce, as much as possible, these inter-centre differences. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  6. Craniofacial Secular Change in Recent Mexican Migrants.

    Science.gov (United States)

    Spradley, Katherine; Stull, Kyra E; Hefner, Joseph T

    2016-01-01

    Research by economists suggests that recent Mexican migrants are better educated and have higher socioeconomic status (SES) than previous migrants. Because factors associated with higher SES and improved education can lead to positive secular changes in overall body form, secular changes in the craniofacial complex were analyzed within a recent migrant group from Mexico. The Mexican group represents individuals in the act of migration, not yet influenced by the American environment, and thus can serve as a starting point for future studies of secular change in this population group. The excavation of a historic Hispanic cemetery in Tucson, Arizona, also allows for a comparison between historic Hispanics and recent migrants to explore craniofacial trends over a broad time period, as both groups originate from Mexico. The present research addresses two main questions: (1) Are cranial secular changes evident in recent Mexican migrants? (2) Are historic Hispanics and recent Mexican migrants similar? By studying secular changes within a migrant population group, secular trends may be detected, which will be important for understanding the biological variation of the migrants themselves and will serve as a preliminary investigation of secular change within Mexican migrants. The comparison of a sample of recent Mexican migrants with a historic Hispanic sample, predominantly of Mexican origin, allows us to explore morphological similarities and differences between early and recent Mexicans within the United States. Vault and face size and a total of 82 craniofacial interlandmark distances were used to explore secular changes within the recent Mexican migrants (females, n = 38; males, n = 178) and to explore the morphological similarities between historic Hispanics (females, n = 54; males, n = 58) and recent migrants. Sexes were separated, and multivariate adaptive regression splines and basis splines (quadratic with one knot) were used to assess the direction and magnitude

  7. Proteus syndrome: craniofacial and cerebral MRI

    International Nuclear Information System (INIS)

    DeLone, D.R.; Brown, W.D.; Gentry, L.R.

    1999-01-01

    The Proteus syndrome is a rare hamartoneoplastic syndrome that may affect the brain, skull, and extracranial head and neck. We present a case with severe, characteristic findings. Brain abnormalities are not common in Proteus syndrome; when present, hemimegalencephaly and migrational disorders are typically seen, commonly with an associated seizure disorder. Maxillary and mandibular dysmorphism may occur, including unilateral condylar hyperplasia. Subcutaneous fatty, fibrous, lymphangiomatous masses commonly seen in this syndrome may involve the neck and face, leading to disfigurement and potential airway compromise. (orig.)

  8. Mechanical Ventilation and Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Keszler, Martin; Sant'Anna, Guilherme

    2015-12-01

    Mechanical ventilation is an important potentially modifiable risk factor for the development of bronchopulmonary dysplasia. Effective use of noninvasive respiratory support reduces the risk of lung injury. Lung volume recruitment and avoidance of excessive tidal volume are key elements of lung-protective ventilation strategies. Avoidance of oxidative stress, less invasive methods of surfactant administration, and high-frequency ventilation are also important factors in lung injury prevention. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Ectodermal dysplasia in identical twins

    OpenAIRE

    Puttaraju, Gurkar Haraswarupa; Visveswariah, Paranjyothi Magadi

    2013-01-01

    Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facia...

  10. Mondini Dysplasia Presenting as Otorrhea without Meningitis

    OpenAIRE

    Chien-Yu Lin; Hung-Ching Lin; Chun-Chih Peng; Kuo-Sheng Lee; Nan-Chang Chiu

    2012-01-01

    Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emp...

  11. Idiosyncratic Presentation of Cemento-Osseous Dysplasia – An in Depth Analysis Using Cone Beam Computed Tomography

    Science.gov (United States)

    Pachigolla, Ramaswamy; Govada, Vanya Mahitha; Alapati, Satish; Balla, Smitha

    2016-01-01

    Bone dysplasias comprise of a condition where the normal bone is replaced with fibrous tissue. Periapical Cemento-Osseous Dysplasia (PCOD) is a benign fibro-osseous condition where bone tissue is supplanted with fibrous tissue and cementum-like material. This condition affects mostly mandibular anterior region and rarely occurs in the maxilla. PCOD is seen above 30 years of age and has slight female predilection. Generally the teeth related to such lesions appear to be vital and are usually asymptomatic. These lesions are mostly seen during routine radiographic examination whose presentation may vary from complete radiolucency to dense radiopacity. The advent of Cone Beam Computed Tomography (CBCT) has brought a massive change in the field of dentistry which has become an important tool for diagnosis. Hence we hereby present an unusual case of cemento-osseous dysplasia in an unfamiliar location with an atypical presentation. The shape of the pathology was completely idiosyncratic and different from an orthodox lesion of COD, as the lesion was observed to grow out of the palatal surface with a prominent palatal expansion. This case highlights the importance of CBCT in radiographic diagnosis and in evaluating the characteristics of such lesion, which present with high diagnostic dilemma. PMID:27437374

  12. Zebrafish con/disp1 reveals multiple spatiotemporal requirements for Hedgehog-signaling in craniofacial development

    Directory of Open Access Journals (Sweden)

    Schwend Tyler

    2009-11-01

    Full Text Available Abstract Background The vertebrate head skeleton is derived largely from cranial neural crest cells (CNCC. Genetic studies in zebrafish and mice have established that the Hedgehog (Hh-signaling pathway plays a critical role in craniofacial development, partly due to the pathway's role in CNCC development. Disruption of the Hh-signaling pathway in humans can lead to the spectral disorder of Holoprosencephaly (HPE, which is often characterized by a variety of craniofacial defects including midline facial clefting and cyclopia 12. Previous work has uncovered a role for Hh-signaling in zebrafish dorsal neurocranium patterning and chondrogenesis, however Hh-signaling mutants have not been described with respect to the ventral pharyngeal arch (PA skeleton. Lipid-modified Hh-ligands require the transmembrane-spanning receptor Dispatched 1 (Disp1 for proper secretion from Hh-synthesizing cells to the extracellular field where they act on target cells. Here we study chameleon mutants, lacking a functional disp1(con/disp1. Results con/disp1 mutants display reduced and dysmorphic mandibular and hyoid arch cartilages and lack all ceratobranchial cartilage elements. CNCC specification and migration into the PA primorida occurs normally in con/disp1 mutants, however disp1 is necessary for post-migratory CNCC patterning and differentiation. We show that disp1 is required for post-migratory CNCC to become properly patterned within the first arch, while the gene is dispensable for CNCC condensation and patterning in more posterior arches. Upon residing in well-formed pharyngeal epithelium, neural crest condensations in the posterior PA fail to maintain expression of two transcription factors essential for chondrogenesis, sox9a and dlx2a, yet continue to robustly express other neural crest markers. Histology reveals that posterior arch residing-CNCC differentiate into fibrous-connective tissue, rather than becoming chondrocytes. Treatments with Cyclopamine, to

  13. Congenital distal humeral dysplasia: a case report

    International Nuclear Information System (INIS)

    Joseph, Benjamin; Varghese, Renjit A.

    2003-01-01

    Congenital dysplasia of the humerus is very rare. It is characteristically seen in omodysplasia and has also been reported as one of the associated features of Larsen's syndrome. We report a 4-year-old girl with bilateral humero-ulnar dysplasia, with dislocation of the elbows, facial dysmorphism, ball-and-socket ankles and foot deformities. Although the elbow dysplasia is similar to that seen in Larsen's syndrome, other pathognomic features of Larsen's syndrome were absent. The changes seen in the elbows in this patient are also different from those encountered in omodysplasia. We believe that this condition may be a distinct form of skeletal dysplasia hitherto undescribed. (orig.)

  14. Lower Lid Ectropion in Hypohidrotic Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Xiaoyun Zhang

    2015-01-01

    Full Text Available We report a case of a lower lid ectropion with ectodermal dysplasia and ectropion blepharoplasty surgery experience. A 14-year-old Han nationality male patient with typical characteristics of hypohidrotic ectodermal dysplasia presented to our clinic for his right lower lid eversion. The patient was diagnosed as having hypohidrotic ectodermal dysplasia and underwent an uneventful blepharoplasty surgery. The lower lid maintained normal position during the 10-month follow-up period. Patients with ectodermal dysplasia could firstly visit ophthalmologist for their ectropion and blepharoplasty surgery could be useful for the disease.

  15. Pelvic radiograph in skeletal dysplasias: An approach

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2017-01-01

    Full Text Available The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. This article discusses many common and some uncommon radiological findings on pelvic radiographs along with the specific dysplasia in which they are seen; common differential diagnostic considerations are also discussed.

  16. Presentation of hypohidrotic ectodermal dysplasia in two siblings

    Directory of Open Access Journals (Sweden)

    Uday Ginjupally

    2015-01-01

    Full Text Available Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder. The two most common types of ectodermal dysplasias are hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome and hidrotic ectodermal dysplasia (Clouston syndrome. Hypohidrotic ectodermal dysplasia is characterized by hypodontia, hypotrichosis, and hypohidrosis. Here, we present two female sibling cases of hypohidrotic ectodermal dysplasia.

  17. Obstetric significance of fetal craniofacial duplication. A case report.

    Science.gov (United States)

    Chervenak, F A; Pinto, M M; Heller, C I; Norooz, H

    1985-01-01

    Craniofacial duplication (diprosopus) is a rare form of conjoined twins. Whenever fetal hydrocephalus is diagnosed, a careful search for other anomalies, such as diprosopus, is mandatory. The obstetric management depends upon the time of the diagnosis.

  18. Associations between the Cervical Vertebral Column and Craniofacial Morphology

    DEFF Research Database (Denmark)

    Sonnesen, Ane Liselotte

    2010-01-01

    Aim. To summarize recent studies on morphological deviations of the cervical vertebral column and associations with craniofacial morphology and head posture in nonsyndromic patients and in patients with obstructive sleep apnoea (OSA). Design. In these recent studies, visual assessment of the cerv......Aim. To summarize recent studies on morphological deviations of the cervical vertebral column and associations with craniofacial morphology and head posture in nonsyndromic patients and in patients with obstructive sleep apnoea (OSA). Design. In these recent studies, visual assessment...... of the cervical vertebral column and cephalometric analysis of the craniofacial skeleton were performed on profile radiographs of subjects with neutral occlusion, patients with severe skeletal malocclusions and patients with OSA. Material from human triploid foetuses and mouse embryos was analysed histologically....... Results. Recent studies have documented associations between fusion of the cervical vertebral column and craniofacial morphology, including head posture in patients with severe skeletal malocclusions. Histological studies on prenatal material supported these findings. Conclusion. It is suggested...

  19. Involuntary craniofacial lingual movements in intensive care-acquired quadriplegia.

    Science.gov (United States)

    Cartagena, A M; Jog, M; Young, G B

    2012-02-01

    The syndrome of involuntary craniofacial lingual movements in the setting of acute intensive care-acquired quadriplegia (critical illness neuromyopathy) following sepsis-associated encephalopathy has not been previously described. We suggest a localization and treatment for this disabling condition. Three patients (2 female) from our center were quadriplegic from critical illness neuromyopathy when they developed involuntary craniofacial lingual movements following sepsis-associated encephalopathy. Extensive investigations failed to identify an etiology for the abnormal movements. Movements were of large amplitude, of moderate speed, and semi-rhythmic in the jaw, tongue, and palate, persistent and extremely bothersome to all patients. Injection with Botulinum toxin type A was very beneficial. Involuntary craniofacial lingual movements in the setting of flaccid quadriplegia following sepsis-associated encephalopathy are consistent with focal craniofacial brainstem myoclonus and constitutes a new syndrome. Botulinum toxin type A treatment maybe helpful in treatment.

  20. Frontofacionasal dysplasia: another observation | Shawky | Egyptian ...

    African Journals Online (AJOL)

    The patient has severe craniofacial anomalies characterized by: hypertelorism, unilateral (Right sided) malformed eye, lagophthalmos, irregular Sshaped palpebral fissures, deformed nostrils, hypoplastic nasal wing, cleft lip, cleft palate and meningeocele. This association of anomalies suggests the diagnosis of ...

  1. Craniofacial orthodontics and postgraduate orthodontic training in Nigeria.

    Science.gov (United States)

    Isiekwe, G I; Oguchi, C O; daCosta, O O; Utomi, I L

    2016-01-01

    Craniofacial orthodontics has been shown to be a critical component of the care of patients with craniofacial anomalies such as cleft lip and palate. Thus, the purpose of this study was to assess the perceptions and clinical experience in cleft and craniofacial care, of orthodontic residents in Nigeria. Questionnaires were sent out to orthodontic residents in the six Postgraduate Orthodontic Training Centers in the country at that time. The questionnaires were self-administered and covered areas in beliefs in cleft care and the clinical experience and challenges faced by the residents in the provision of craniofacial orthodontic care at their various institutions. Thirty-three respondents returned completed questionnaires, with a response rate of 97%. All the respondents believed that residents should be involved in cleft and craniofacial care. Postnatal counseling was the clinical procedure in which the residents reported the highest level of clinical experience (47.4%). The least clinical experience was recorded in pre-bone graft orthodontics (7.4%) and orthodontic preparation for orthognathic surgery (5.5%). Some of the challenges highlighted by the residents were low patients turn out for orthodontic care and the absence of multidisciplinary treatment for craniofacial patients in their centers. Orthodontic residents in Nigeria believe that they should be involved in the management of patients with craniofacial anomalies and cleft lip and palate. However, majority of the residents have limited clinical experience in the management of these patients. A lot more needs to be done, to expose orthodontic residents in training, to all aspects of the orthodontic and multidisciplinary team care required for the cleft/craniofacial patient.

  2. Applications of Computer Technology in Complex Craniofacial Reconstruction

    Directory of Open Access Journals (Sweden)

    Kristopher M. Day, MD

    2018-03-01

    Conclusion:. Modern 3D technology allows the surgeon to better analyze complex craniofacial deformities, precisely plan surgical correction with computer simulation of results, customize osteotomies, plan distractions, and print 3DPCI, as needed. The use of advanced 3D computer technology can be applied safely and potentially improve aesthetic and functional outcomes after complex craniofacial reconstruction. These techniques warrant further study and may be reproducible in various centers of care.

  3. Stem cells: Update and impact on craniofacial surgery

    OpenAIRE

    Levi, Benjamin; Glotzbach, Jason; Wong, Victor; Nelson, Emily; Hyun, Jeong; Wan, Derrick C.; Gurtner, Geoffrey C.; Longaker, Michael T.

    2012-01-01

    With the rapidly expanding field of tissue engineering, surgeons have been eager to apply these principles to craniofacial surgery. Tissue engineering strategies combine the use of a cell type placed on a scaffold and subsequently implanted in vivo to address a tissue defect or tissue dysfunction. In this review we will discuss the current clinical need for skeletal and soft tissue engineering faced by craniofacial surgeons and subsequently we will explore cell types and scaffold designs bein...

  4. Anatomic, histopathologic, and echocardiographic features in a dog with an atypical pulmonary valve stenosis with a fibrous band of tissue and a patent ductus arteriosus.

    Science.gov (United States)

    Yoon, Hakyoung; Kim, Jaehwan; Nahm, Sang-Soep; Eom, Kidong

    2017-07-11

    Congenital pulmonary valve stenosis and patent ductus arteriosus are common congenital heart defects in dogs. However, concurrence of atypical pulmonary valve stenosis and patent ductus arteriosus is uncommon. This report describes the anatomic, histopathologic, and echocardiographic features in a dog with concomitant pulmonary valve stenosis and patent ductus arteriosus with atypical pulmonary valve dysplasia that included a fibrous band of tissue. A 1.5-year-old intact female Chihuahua dog weighing 3.3 kg presented with a continuous grade VI cardiac murmur, poor exercise tolerance, and an intermittent cough. Echocardiography indicated pulmonary valve stenosis, a thickened dysplastic valve without annular hypoplasia, and a type IIA patent ductus arteriosus. The pulmonary valve was thick line-shaped in systole and dome-shaped towards the right ventricular outflow tract in diastole. The dog suffered a fatal cardiac arrest during an attempted balloon pulmonary valvuloplasty. Necropsy revealed pulmonary valve dysplasia, commissural fusion, and incomplete opening and closing of the pulmonary valve because of a fibrous band of tissue causing adhesion between the right ventricular outflow tract and the dysplastic intermediate cusp of the valve. A fibrous band of tissue between the right ventricular outflow track and the pulmonary valve should be considered as a cause of pulmonary valve stenosis. Pulmonary valve stenosis and patent ductus arteriosus can have conflicting effects on diastolic and systolic dysfunction, respectively. Therefore, beta-blockers should always be used carefully, particularly in patients with a heart defect where there is concern about left ventricular systolic function.

  5. Adult psychological functioning of individuals born with craniofacial anomalies.

    Science.gov (United States)

    Sarwer, D B; Bartlett, S P; Whitaker, L A; Paige, K T; Pertschuk, M J; Wadden, T A

    1999-02-01

    This study represents an initial investigation into the adult psychological functioning of individuals born with craniofacial disfigurement. A total of 24 men and women born with a craniofacial anomaly completed paper and pencil measures of body image dissatisfaction, self-esteem, quality of life, and experiences of discrimination. An age- and gender-matched control group of 24 non-facially disfigured adults also completed the measures. As expected, craniofacially disfigured adults reported greater dissatisfaction with their facial appearance than did the control group. Craniofacially disfigured adults also reported significantly lower levels of self-esteem and quality of life. Dissatisfaction with facial appearance, self-esteem, and quality of life were related to self-ratings of physical attractiveness. More than one-third of craniofacially disfigured adults (38 percent) reported experiences of discrimination in employment or social settings. Among disfigured adults, psychological functioning was not related to number of surgeries, although the degree of residual facial deformity was related to increased dissatisfaction with facial appearance and greater experiences of discrimination. Results suggest that adults who were born with craniofacial disfigurement, as compared with non-facially disfigured adults, experience greater dissatisfaction with facial appearance and lower self-esteem and quality of life; however, these experiences do not seem to be universal.

  6. Florid cemento-osseous dysplasia (FCOD: case report

    Directory of Open Access Journals (Sweden)

    Tai-Min Lin

    2010-12-01

    Full Text Available Florid cemento-osseous dysplasia (FCOD is a type of fibro-osseous lesion and represents a reactive process in which normal bone is replaced by poorly cellularized cementum-like materials and cellular fibrous connective tissues. It is strictly localized to the tooth-bearing or edentulous areas, often occurring bilaterally with symmetric involvements. In this case report, a mixed radiolucent and radiopaque lesion at the periapical area of the right mandibular second molar of a 46-year-old female patient was misdiagnosed as chronic apical periodontitis initially by clinical manifestation and radiographic finding on a periapical radiograph. The tooth #47 was a distal abutment tooth of a three-unit bridge from teeth #45–#47. No decay of teeth #45 and #47 was found when the bridge was removed. Electric pulp test revealed that the tooth #47 was a vital-pulp tooth. Panoramic radiography showed a similar mixed radiolucent and radiopaque lesion at the edentulous area of tooth #37. The symmetric distribution of the two lesions with no alveolar bone expansion and the positive vitality test of the involved tooth supported the diagnosis of FCOD for this case. No endodontic treatment or surgical biopsy was performed. The patient was instructed to undergo regular clinical and radiographic follow-up to monitor the change of the lesion. We suggest that when a radiolucent or mixed lesion occurs at the periapical area of a vital-pulp tooth, panoramic radiography may help differentiate an inflammatory periapical lesion from a lesion of cemento-osseous dysplasia (COD.

  7. Osseointegrated Supported Prosthesis and Interdisciplinary Approach for Prosthodontic Rehabilitation of a Young Patient with Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Karthik M. Sadashiva

    2013-01-01

    Full Text Available Anhidrotic ectodermal dysplasia is a triad of hypodontia or anodontia, hypotrichosis, and hypohydrosis, associated with other problems that result from the defective development of structures of ectodermal origin (Freire-Maia, Pinheiro (1988. Early and extensive dental treatment is needed keeping in mind the effect on the craniofacial growth. Due to rapid growth of the jaws, the patients are rehabilitated using removable prostheses (Tarjan et al. (2005. Hence for a young patient in this case report, the placement of endosseous osseointegrated implants was delayed till adulthood. Finally a definitive fixed tooth-supported and osseointegrated implant supported fixed partial denture therapy was used to rehabilitate the patient satisfactorily after she had completed her growth (Sweeney et al. (2005. A review of the current literature relevant to several aspects of syndromic hypodontia, patient selection, and implant planning is discussed.

  8. Disturbances of dental development distinguish patients with oligodontia-ectodermal dysplasia from isolated oligodontia.

    Science.gov (United States)

    Dhamo, B; Kuijpers, M A R; Balk-Leurs, I; Boxum, C; Wolvius, E B; Ongkosuwito, E M

    2018-02-01

    To investigate phenotypic differences in dental development between isolated oligodontia and oligodontia-ectodermal dysplasia (ED). A total of 129 patients diagnosed with isolated oligodontia and 22 patients with oligodontia as part of ED were eligible. The phenotype of dental development was assessed for the frequency of missing a certain tooth, dental age, development of each tooth present, abnormal size and abnormal shape of teeth. The data were analysed building linear, ordinal and logistic regression models. Compared to patients with isolated oligodontia, patients with oligodontia-ED missed more frequently central incisors and second molars in both jaws, and lateral incisors in the mandible (P ectodermal abnormalities. © 2017 The Authors. Orthodontics & Craniofacial Research Published by John Wiley & Sons Ltd.

  9. Oral rehabilitation of a patient with ectodermal dysplasia with prosthodontics treatment

    Directory of Open Access Journals (Sweden)

    Srinivas Nallanchakrava

    2013-01-01

    Full Text Available Ectodermal dysplasia (ED is a rare, congenital disease that involves the sweat glands, scalp hair, nails, skin pigmentation, and craniofacial structure. Oral symptoms of ED include multiple tooth abnormalities (such as hypodontia, anadontia, impacted teeth, and peg-shaped or conical anterior teeth and lack of normal alveolar ridge development. A 12-year-old male patient, in the absence of any other systemic abnormalities, exhibited typical characteristics of ED, visited our department of pedodontics and preventive dentistry at Panineeya Mahavidyalaya Institute of Dental Sciences and Research Centre. In the clinical and radiographic evaluation, it was occurred that he had only maxillary and mandibular first molars in his mouth. A maxillary and mandibular denture with clasps for retention was fabricated for prosthodontic rehabilitation after considering his growth and the number and condition of his present teeth. At the 18-month follow-up no major complications occurred and further future treatment included implants retained fixed partial dentures.

  10. First description of Phanerozoic radiaxial fibrous dolomite

    Science.gov (United States)

    Richter, D. K.; Heinrich, F.; Geske, A.; Neuser, R. D.; Gies, H.; Immenhauser, A.

    2014-05-01

    The petrographic analysis and crystallographic analysis of concretionary carbonate cements ("coal balls") from Carboniferous paralic swamp deposits reveal the presence of (length fast) radiaxial fibrous dolomite (RFD), a fabric not previously reported from the Phanerozoic. This finding is of significance as earlier reports of Phanerozoic radiaxial fibrous carbonates are exclusively of calcite mineralogy. Dolomite concretions described here formed beneath marine transgressive intervals within palustrine coal seams. This is of significance as seawater was arguably the main source of Mg2 + ions for dolomite formation. Here, data from optical microscopy, cathodoluminescence, electron backscattered diffraction, X-ray diffraction and geochemical analyses are presented to characterize three paragenetic dolomite phases and one calcite phase in these concretions. The main focus is on the earliest diagenetic, non-stoichiometric (degree of order: 0.41-0.46) phase I, characterized by botryoidal dolomite constructed of fibres up to 110 μm wide with a systematic undulatory extinction and converging crystal axes. Petrographic and crystallographic evidence clearly qualifies phase I dolomite as radiaxial fibrous. Conversely, fascicular optical fabrics were not found. Carbon-isotope ratios (δ13C) are depleted (between - 11.8 and - 22.1‰) as expected for carbonate precipitation from marine pore-fluids in organic-matter-rich, paralic sediment. Oxygen isotope (δ18O) ratios range between - 1.3 and - 6.0‰. The earliest diagenetic nature of these cements is documented by the presence of ubiquitous, non-compacted fossil plant remains encased in phase I dolomite as well as by the complex zoned luminescence patterns in the crystals and is supported by crystallographic and thermodynamic considerations. It is argued that organic matter, and specifically carboxyl groups, reduced thermodynamic barriers for dolomite formation and facilitated Mg/CaCO3 precipitation. The data shown here

  11. High surface area fibrous silica nanoparticles

    KAUST Repository

    Polshettiwar, Vivek; Basset, Jean-Marie

    2014-01-01

    Disclosed are high surface area nanoparticles that have a fibrous morphology. The nanoparticles have a plurality of fibers, wherein each fiber is in contact with one other fiber and each fiber has a length of between about 1 nm and about 5000 nm. Also disclosed are applications of the nanoparticles of the present invention, and methods of fabrication of the nanoparticles of the present invention.

  12. High surface area fibrous silica nanoparticles

    KAUST Repository

    Polshettiwar, Vivek

    2014-11-11

    Disclosed are high surface area nanoparticles that have a fibrous morphology. The nanoparticles have a plurality of fibers, wherein each fiber is in contact with one other fiber and each fiber has a length of between about 1 nm and about 5000 nm. Also disclosed are applications of the nanoparticles of the present invention, and methods of fabrication of the nanoparticles of the present invention.

  13. Aerosol filtration with metallic fibrous filters

    International Nuclear Information System (INIS)

    Klein, M.; Goossens, W.R.A.

    1983-01-01

    The filtration efficiency of stainless steel fibrous filters (BEKIPOR porous mats and sintered webs) is determined using submicronic monodisperse polystyrene aerosols. Lasers spectrometers are used for the aerosol measurements. The parameters varied are the fiber diameter, the number of layers, the aerosol diameter and the superficial velocity. Two selected types of filters are tested with polydisperse methylene blue aerosols to determine the effect of bed loading on the filter performance and to test washing techniques for the regeneration of the filter

  14. Benign Fibrous Tumour of the Parotid Gland

    Directory of Open Access Journals (Sweden)

    S.S. Sreetharan

    2005-01-01

    Full Text Available The case of a 44-year-old man with left parotid enlargement that was initially diagnosed as cementifying fibroma is presented. The lesion was found in the deep lobe of the parotid gland and was successfully removed. Postoperatively, the patient recovered well with intact facial nerve function and remained asymptomatic after 1 year. Subsequent histology revealed the mass to be a benign fibrous tumour. The diagnosis and management of this rare entity are discussed.

  15. Evaluation of shelf arthroplasty as a treatment for hip dysplasia in dogs.

    Science.gov (United States)

    Oakes, M G; Lewis, D D; Elkins, A D; Hosgood, G; Dial, S M; Oliver, J

    1996-06-01

    To evaluate effects of shelf arthroplasty on coxofemoral joint laxity and progression of degenerative joint disease in young dogs with hip dysplasia. Prospective, controlled study. 10 dogs between 10 and 24 months old and weighing between 20 and 27 kg. All dogs had bilateral coxofemoral joint laxity (i.e., an Ortolani's sign). In all dogs, shelf arthroplasty was performed on the right coxofemoral joints, and a sham procedure was performed on the left. Dogs were evaluated before and after surgery by means of lameness assessment, coxofemoral joint palpation and goniometry, thigh circumference measurement, and radiography. There were no significant changes in coxofemoral joint mobility, range of motion, joint laxity, degree of degenerative joint disease, or thigh circumference during the study. A greater amount of periacetabular bone formed on the right side than on the left side; however, dogs did not develop large bony shelves, and the amount of periarticular bone decreased over time. The polymer implants remained in their original position and were encapsulated by fibrous tissue. There was no histologic evidence of osteoconduction by the implants. The polymer implants used in this procedure do not appear to be osteoconductive. Shelf arthroplasty was associated with minimal morbidity and was not associated with serious adverse sequelae in this study, but the procedure did not alter the progression of hip dysplasia in these dogs. We cannot advocate shelf arthroplasty using this polymer as a treatment for dogs with hip dysplasia.

  16. Toxicity and Carcinogenicity Mechanisms of Fibrous Antigorite

    Directory of Open Access Journals (Sweden)

    Michael Balazy

    2007-03-01

    Full Text Available We studied the effects of fibrous antigorite on mesothelial MeT-5A and monocyte-macrophage J774 cell lines to further understand cellular mechanisms induced by asbestos fibers leading to lung damage and cancer. Antigorite is a mineral with asbestiform properties, which tends to associate with chrysotile or tremolite, and frequently occurs as the predominant mineral in the veins of several serpentinite rocks found abundantly in the Western Alps. Particles containing antigorite are more abundant in the breathing air of this region than those typically found in urban ambient air. Exposure of MeT-5A and J774 cells to fibrous antigorite at concentrations of 5-100 μg/ml for 72 hr induced dose-dependent cytotoxicity. Antigorite also stimulated the ROS production, induced the generation of nitrite and PGE2. MeT-5A cells were more sensitive to antigorite than J774 cells. The results of this study revealed that the fibrous antigorite stimulates cyclooxygenase and formation of hydroxyl and nitric oxide radicals. These changes represent early cellular responses to antigorite fibers, which lead to a host of pathological and neoplastic conditions because free radicals and PGE2 play important roles as mediators of tumor pathogenesis. Understanding the mechanisms of the cellular responses to antigorite and other asbestos particles should be helpful in designing rational prevention and treatment approaches.

  17. Mondini dysplasia with recurrent meningitis.

    Science.gov (United States)

    Lu, M Y; Lee, P I; Lee, C Y; Hsu, C J

    1996-01-01

    Mondini dysplasia is a congenital malformation of the inner ear, commonly associated with hearing impairment, cerebrospinal fluid otorrhea/rhinorrhea and recurrent meningitis. Two such cases are described, with hearing impairment, cerebrospinal fluid rhinorrhea, and several episodes of meningitis. Diagnosis was confirmed by high-resolution computed tomography. After surgical correction of the malformation, there was no recurrent episode of meningitis at subsequent follow-up. To avoid the suffering and the sequelae of recurrent meningitis, an early diagnosis and prompt surgical intervention are crucial for such patients.

  18. Cochlear implantation in Mondini dysplasia.

    Science.gov (United States)

    Daneshi, Ahmad; Hassanzadeh, Saeid; Abasalipour, Parvaneh; Emamdjomeh, Hessamaddin; Farhadi, Mohammad

    2003-01-01

    The use of cochlear implantation to treat patients with inner ear malformations such as Mondini dysplasia has been increasingly successful. Until now, conventional hearing aids in these patients have not performed well. Consequently, the hearing problem for patients with this condition has been somewhat improved with the use of cochlear implants. Various results of cochlear implantation have been reported in these patients so far. This is a report of 5 patients with Mondini malformation who have undergone cochlear implant surgery. Copyright 2003 S. Karger AG, Basel

  19. Hypoxic Episodes in Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Martin, Richard J; Di Fiore, Juliann M; Walsh, Michele C

    2015-12-01

    Hypoxic episodes are troublesome components of bronchopulmonary dysplasia (BPD) in preterm infants. Immature respiratory control seems to be the major contributor, superimposed on abnormal respiratory function. Relatively short respiratory pauses may precipitate desaturation and bradycardia. This population is predisposed to pulmonary hypertension; it is likely that pulmonary vasoconstriction also plays a role. The natural history has been well-characterized in the preterm population at risk for BPD; however, the consequences are less clear. Proposed associations of intermittent hypoxia include retinopathy of prematurity, sleep disordered breathing, and neurodevelopmental delay. Future study should address whether these associations are causal relationships. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. Cleidocranial dysplasia: A family report

    Directory of Open Access Journals (Sweden)

    Chelvan H

    2009-01-01

    Full Text Available A 10-year-old girl presented with a chief complaint of many unerupted teeth. Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD. Her father also presented similar features with a lesser clinical severity. CCD is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2 gene. Failure of tooth eruption is probably mainly due to this mutated gene in CCD patients. Interdisciplinary treatment approach is obligatory for rehabilitation of these patients. In confirmed cases, genetic counseling for family planning should certainly be advised.

  1. Ectodermal dysplasia in identical twins

    Directory of Open Access Journals (Sweden)

    Gurkar Haraswarupa Puttaraju

    2013-01-01

    Full Text Available Hereditary hypohidrotic ectodermal dysplasia (HED is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facial esthetics and psychology of patients affected by this disease.

  2. MRI of focal cortical dysplasia

    International Nuclear Information System (INIS)

    Lee, B.C.P.; Hatfield, G.A.; Bourgeois, B.; Park, T.S.

    1998-01-01

    We studied nine cases of focal cortical dysplasia (FCD) by MRI, with surface-rendered 3D reconstructions. One case was also examined using single-voxel proton MR spectroscopy (MRS). The histological features were reviewed and correlated with the MRI findings. The gyri affected by FCD were enlarged and the signal of the cortex was slightly increased on T1-weighted images. The gray-white junction was indistinct. Signal from the subcortical white matter was decreased on T1- and increased on T2-weighted images in most cases. Contrast enhancement was seen in two cases. Proton MRS showed a spectrum identical to that of normal brain. (orig.) (orig.)

  3. Current state of craniofacial prosthetic rehabilitation.

    Science.gov (United States)

    Ariani, Nina; Visser, Anita; van Oort, Robert P; Kusdhany, Lindawati; Rahardjo, Tri Budi W; Krom, Bastiaan P; van der Mei, Henry C; Vissink, Arjan

    2013-01-01

    This study aimed to review the current state of the techniques and materials used to rehabilitate maxillofacial defects. The MEDLINE and EMBASE databases were searched for articles pertinent to maxillofacial prostheses published from January 1990 to July 2011. The main clinical stages were the subject of analysis. A multidisciplinary approach is preferred when rehabilitating maxillofacial defects. Surgical reconstruction can be used for smaller defects, but larger defects require a prosthesis to achieve an esthetic rehabilitation. Implant retained prostheses are preferred over adhesive prostheses. Silicone elastomer is currently the best material available for maxillofacial prostheses; however, longevity and discoloration, which are greatly influenced by ultraviolet radiation, microorganisms, and environmental factors, remain significant problems. In the near future, the widespread availability and cost effectiveness of digital systems may improve the workflow and outcomes of facial prostheses. Patients report high satisfaction with their prostheses despite some areas that still need improvement. Maxillofacial prostheses are a reliable treatment option to restore maxillofacial defects and improve quality of life. Significant progress has been made in the application of implants for retention and digital technology for designing surgical guides, suprastructures, and craniofacial prostheses. Further improvements are necessary to enhance longevity of prostheses.

  4. US of the hips in skeletal dysplasias and chromosomal aberrations

    International Nuclear Information System (INIS)

    Langer, R.; Langer, M.F.J.; Zwicker, C.

    1987-01-01

    Since January 1984 all newborns and infants with skeletal dysplasias and chromosomal aberrations were investigated by hip US, in addition to plain x-ray surveys. The authors observed one chondroectodermal dysplasia, one congenital spondyloepiphysial dysplasia, one cleidocranial dysplasia, one fibrochondrogenesis, two diastrophic dysplasias, and eight trisomies. The abnormalities of the hip joints could be demonstrated, and were compared with the findings on plain films. Especially skeletal dysplasias with abundant presence of cartilage were well visible. The newborn with trisomies showed normal hip joints. In the authors' opinion, all newborns with skeletal dysplasias should be investigated by hip sonography, in addition to skeletal radiography

  5. Craniofacial morphology in Turner syndrome patients treated with growth hormone

    Directory of Open Access Journals (Sweden)

    Jovana Julsoki

    2015-05-01

    Full Text Available ABSTRACT Introduction: In addition to well-established physical characteristics, Turner syndrome patients have distinct craniofacial morphology. Since short stature is the most typical characteristic, Turner syndrome patients are commonly treated with growth hormone in order to increase final height. At the same time, growth hormone treatment was found to influence craniofacial growth and morphology in various groups of treated patients. Whereas craniofacial characteristics of Turner syndrome patients are well documented, comparatively little is known of craniofacial morphology of those who are treated with growth hormone. Aim: The aim of this study was to investigate craniofacial morphology in Turner syndrome patients treated with growth hormone in comparison to healthy females. Materials and methods: The cephalometric evaluation was conducted on twenty lateral cephalograms of Turner syndrome patients (13.53 ± 4.04 years treated with growth hormone for at least one year (4.94 ± 1.92 years in average. As a control group, forty lateral cephalograms of healthy female controls, who matched Turner syndrome patients by chronological (11.80 ± 2.37 years and skeletal age, were used. Eleven angular, seven linear measurements and six dimensional ratios were measured to describe craniofacial morphology. Results: The results obtained for angular measurements, in cephalometric analyses for Turner syndrome patients treated with growth hormone, revealed bimaxillary retrognathism. The linear measurements indicated longer mandibular ramus, anterior cranial base and both anterior and posterior facial heights. However, posterior cranial base and maxilla were in proportion to the anterior cranial base, when comparing dimensional ratios. Anterior cranial base, maxilla and mandibular ramus were larger in proportion to mandibular body; as well as posterior facial height was when compared to anterior facial height. Turner syndrome patients treated with growth

  6. Cranio-facial clefts in pre-hispanic America.

    Science.gov (United States)

    Marius-Nunez, A L; Wasiak, D T

    2015-10-01

    Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Three-dimensional spiral CT of craniofacial malformations in children

    International Nuclear Information System (INIS)

    Binaghi, S.; Gudinchet, F.

    2000-01-01

    Objective. To assess the value of three-dimensional CT (3D CT) in the diagnosis and management of suspected paediatric craniofacial malformations. Materials and methods. Twenty-eight children (12 girls, 16 boys) with a mean age of 4 years, suffering from craniofacial or cervical malformations, underwent craniofacial spiral CT. 3D reformatting was performed using an independent workstation. Results. 3D CT allowed the preoperative evaluation of 16 patients with craniosynostosis and the post-surgical management of 2 patients. 3D CT clearly depicted malformations of the skull base involving the petrous bone in seven patients (four cases of Goldenhar-Gorlin syndrome, one case of Treacher-Collins syndrome and two cases of Crouzon's disease). Four patients with craniofacial clefts were also evaluated. Radiological findings were confirmed by the clinical and intraoperative findings in all patients that underwent surgical treatment. Movement artefacts and ''Lego effect'' related to abrupt change of cranial vault border were encountered and are discussed. Conclusions. 3D CT of the skull can safely and reliably identify paediatric craniofacial malformations involving bone, and it should be used as morphological mapping to help the surgeon in planning surgical treatment. (orig.)

  8. Ectodermal dysplasia: otolaryngologic evaluation of 23 cases.

    Science.gov (United States)

    Yildirim, Muzeyyen; Yorgancilar, Ediz; Gun, Ramazan; Topcu, Ismail

    2012-02-01

    The aim of this prospective study was to improve the quality of life of and reduce morbidity for patients with ectodermal dysplasia by assessing their actual and potential ENT pathologies, and offering methods of prevention and treatment. The study was conducted between 2006 and 2008 and included 23 patients diagnosed with ectodermal dysplasia. The major symptoms of ectodermal dysplasia were evaluated. Patient histories were obtained in all cases, and a complete head and neck examination was carried out. Of the 23 patients (11 males and 12 females, aged 5 to 45 years) diagnosed with ectodermal dysplasia, 22 had hypohidrotic ectodermal dysplasia and 1 had ectrodactyly-ectodermal dysplasia-clefting syndrome. In all patients diagnosed with hypohidrotic ectodermal dysplasia, the salivary glands were examined by ultrasonography and, when necessary, by scintigraphy. Hearing defects in patients with otologic problems were determined by audiometric examination: 39.1% of the patients had hearing loss, 43.5% had otitis media, and 39.1% had impacted cerumen. The most common rhinologic findings were saddle nose deformity in 56.5%, nasal obstruction and nasal dryness (52.2% each), and chronic rhinitis/rhinosinusitis (34.8%). The most common oral and oropharyngeal findings were difficulty chewing in 82.6% and dry mouth in 78.3%. All 23 patients had required dental work. Because this disorder affects several aspects of the body, its treatment requires a multidisciplinary approach, with the otolaryngologist being a vital part of the management team.

  9. 75 FR 62553 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

    Science.gov (United States)

    2010-10-12

    ... Craniofacial Research Special Emphasis Panel, Secondary Data Analysis R03s: Special Emphasis Panel. Date... Craniofacial Research Special Emphasis Panel, Special Emphasis Panel: Secondary Data Analysis R03s. Date...

  10. Multiple Epiphyseal Dysplasia (MED: A Rare Type of Skeletal Dysplasia

    Directory of Open Access Journals (Sweden)

    Mohammad Imnul Islam

    2012-06-01

    Full Text Available Multiple epiphyseal dysplasia (MED is a congenital disorder of skeletal development that primarily affects the ends of long bones, causing progressive joint and bone inflammation and short stature. Mutations in several genes are responsible for pathogenesis of this disease. We are reporting a case of MED who presented with the complaints of multiple swelling of the joints which was associated with pain during movement for last seven years. The patient had flexion deformity of all the affected joints along with restriction of movement. These were associated with kyphosis, pectus carnitum, knock-knee and short stature. Radiological findings were suggestive of MED. Counseling was done with the parents regarding the etiology, progression and outcome of the disease.DOI: http://dx.doi.org/10.3329/bsmmuj.v5i1.11025 BSMMU J 2012; 5(1:57-60 

  11. Postirradiation sarcoma (malignant fibrous histiocytoma) following cervix cancer

    International Nuclear Information System (INIS)

    Pinkston, J.A.; Sekine, Ichiro.

    1980-12-01

    A case of postirradiation sarcoma is described. The tumor, a malignant fibrous histiocytoma, occurred in the radiation field 11 years following postoperative external beam radiation therapy (7,000 rad) for carcinoma of the cervix. Reports of postirradiation malignant fibrous histiocytoma are rare, and the occurrence of this neoplasm following treatment for cervix cancer has not previously been described. The literature concerning postirradiation bone and soft tissue sarcomas is briefly reviewed, with special attention to malignant fibrous histiocytomas. (author)

  12. Natural triple beta-stranded fibrous folds.

    Science.gov (United States)

    Mitraki, Anna; Papanikolopoulou, Katerina; Van Raaij, Mark J

    2006-01-01

    A distinctive family of beta-structured folds has recently been described for fibrous proteins from viruses. Virus fibers are usually involved in specific host-cell recognition. They are asymmetric homotrimeric proteins consisting of an N-terminal virus-binding tail, a central shaft or stalk domain, and a C-terminal globular receptor-binding domain. Often they are entirely or nearly entirely composed of beta-structure. Apart from their biological relevance and possible gene therapy applications, their shape, stability, and rigidity suggest they may be useful as blueprints for biomechanical design. Folding and unfolding studies suggest their globular C-terminal domain may fold first, followed by a "zipping-up" of the shaft domains. The C-terminal domains appear to be important for registration because peptides corresponding to shaft domains alone aggregate into nonnative fibers and/or amyloid structures. C-terminal domains can be exchanged between different fibers and the resulting chimeric proteins are useful as a way to solve structures of unknown parts of the shaft domains. The following natural triple beta-stranded fibrous folds have been discovered by X-ray crystallography: the triple beta-spiral, triple beta-helix, and T4 short tail fiber fold. All have a central longitudinal hydrophobic core and extensive intermonomer polar and nonpolar interactions. Now that a reasonable body of structural and folding knowledge has been assembled about these fibrous proteins, the next challenge and opportunity is to start using this information in medical and industrial applications such as gene therapy and nanotechnology.

  13. Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features.

    Science.gov (United States)

    Wu, Bo; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiao-Ping; Xia, Wei-Bo

    2016-05-01

    Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that is characterized by progressive sclerosis of the craniofacial bones and metaphyseal widening of long bones, and biochemical indexes were mostly normal. To further the understanding of the disease from a biochemical perspective, we reported a CMD case with obviously abnormal biochemical indexes. A 1-year-old boy was referred to our clinic. Biochemical test showed obviously increased alkaline phosphatase (ALP) and parathyroid hormone (PTH), mild hypocalcemia and hypophosphatemia. Moreover, significant elevated receptor activator of nuclear factor kappa-B ligand (RANKL) level, but normal β-C-terminal telopeptide of type I collagen (β-CTX) concentration were revealed. He was initially suspected of rickets, because the radiological examination also showed broadened epiphysis in his long bones. Supplementation with calcium and calcitriol alleviated biochemical abnormality. However, the patient gradually developed osteosclerosis which was inconformity with rickets. Considering that he was also presented with facial paralysis and nasal obstruction symptom, the diagnosis of craniometaphyseal dysplasia was suspected, and then was confirmed by the mutation analysis of ANKH of the proband and his family, which showed a de novo heterozygous mutation (C1124-1126delCCT) on exon 9. Our study revealed that obvious biochemical abnormality and rickets-like features might present as uncommon characteristics in CMD patients, and the calcium and calcitriol supplementation could alleviate biochemical abnormalities. Furthermore, although early osteoclast differentiation factor was excited in CMD patient, activity of osteoclast was still inert. Copyright © 2016. Published by Elsevier B.V.

  14. Fibrous composites comprising carbon nanotubes and silica

    Science.gov (United States)

    Peng, Huisheng [Shanghai, CN; Zhu, Yuntian Theodore [Cary, NC; Peterson, Dean E [Los Alamos, NM; Jia, Quanxi [Los Alamos, NM

    2011-10-11

    Fibrous composite comprising a plurality of carbon nanotubes; and a silica-containing moiety having one of the structures: (SiO).sub.3Si--(CH.sub.2).sub.n--NR.sub.1R.sub.2) or (SiO).sub.3Si--(CH.sub.2).sub.n--NCO; where n is from 1 to 6, and R.sub.1 and R.sub.2 are each independently H, CH.sub.3, or C.sub.2H.sub.5.

  15. Cylindrical concave body of composite fibrous material

    International Nuclear Information System (INIS)

    1979-01-01

    The invention is concerned with a cylindrical concave body of compound fibrous material which is intended to be exposed to high rotation speeds around its own longitudinal axis. The concave body in question has at least one layer of fibrils that are interwoven and enclose an identical angle with the longitudinal axis of the concave body in both directions. The concave body in question also has at least a second layer of fibrils that run in the direction of the circumference and are fitted radially to the outside. The cylindrical concave body of the invention is particularly well suited for application as a rotor tube in a gas ultra-centrifuge

  16. Skeletal manifestations of primary malignant fibrous histiocytoma

    International Nuclear Information System (INIS)

    David, R.; Lindell, M.M.; Kumar, R.; Madewell, J.E.; Shirkhoda, A.

    1986-01-01

    Sixty-five patients, aged 18-84 years, with pathologically proved primary malignant fibrous histiocytoma of bone were studied. Tumors were distributed equally between men and women. The plain film, CT, bone scan, and angiographic findings in each patient were reviewed and correlated. The lesions were predominantly in the appendicular skeleton (66%), with about 33% being centrally located. Only one patient had multiple skeletal lesions. Fifty-two percent of the lesions were lytic, 28% were blastic, and 20% had a mixed pattern. This lesion should be recognized by the radiologist as an entity which has a poor prognosis

  17. Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis.

    Science.gov (United States)

    Barman, Debasis; Mandal, Satadal; Nandi, Santanu; Banerjee, Pranabashish; Rashid, M A

    2011-11-01

    Ectodermal dysplasia is a complex group of familial disorders with numerous clinical characteristics, with an incidence of 7 in 10000 born alive children. Ectodermal dysplasia affects structures of ectodermal origin like the skin and its appendages as well as other non-ectodermal structures. The most common sites of involvement are the defects in the skin, hair, teeth, nails and sweat glands,which are of ectodermal origin. Though the dermatologists and paediatricians often manage such cases, we report one case of ectodermal dysplasia presenting with atrophic rhinitis.

  18. Mondini Dysplasia Presenting as Otorrhea without Meningitis

    Directory of Open Access Journals (Sweden)

    Chien-Yu Lin

    2012-12-01

    Full Text Available Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment.

  19. Mondini dysplasia presenting as otorrhea without meningitis.

    Science.gov (United States)

    Lin, Chien-Yu; Lin, Hung-Ching; Peng, Chun-Chih; Lee, Kuo-Sheng; Chiu, Nan-Chang

    2012-12-01

    Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment. Copyright © 2012. Published by Elsevier B.V.

  20. Cleidocranial Dysplasia: Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Avinash Kshar

    2010-01-01

    Full Text Available Cleidocranial dysplasia constitutes a congenital disorder manifested primarily in the development of facial and cranial bones, as well as partial development or complete absence of the clavicles and problems also arise on the number and eruption of teeth. It is a rare disease with autosomal dominant but 40% cases represented spontaneous mutations. This disease has no sex predilection. It is characterized by a generalized skeletal dysplasia. 1 In this article we are reporting two cases of cleidocranial dysplasia in son and father with characteristic clinical and radiographic features.

  1. Analysis of Practice Settings for Craniofacial Surgery Fellowship Graduates in North America.

    Science.gov (United States)

    Silvestre, Jason; Runyan, Christopher; Taylor, Jesse A

    In North America, the number of craniofacial surgery fellowship graduates is increasing, yet an analysis of practice settings upon graduation is lacking. We characterize the practice types of recent graduates of craniofacial fellowship programs in the United States and Canada. A 6-year cohort of craniofacial fellows in the United States and Canada (2010-2016) were obtained from craniofacial programs recognized by the American Society of Craniofacial Surgery. Practice setting was determined at 1 and 3 years of postgraduation, and predictors of practice setting were determined. A total of 175 craniofacial surgeons were trained at 35 fellowship programs. At 1 year of postgraduation, 33.6% had an academic craniofacial position and 27.1% were in private practice (p = 0.361). A minority of graduates pursued additional fellowships (16.4%), nonacademic craniofacial positions (10.0%), academic noncraniofacial positions (5.7%), and international practices (7.1%). At 3 years of postgraduation, the percentage of graduates in academic craniofacial positions was unchanged (34.5% vs 33.6%, p = 0.790). The strongest predictors of future academic craniofacial practice were completing plastic surgery residency at a program with a craniofacial fellowship program (odds ratio = 6.78, p < 0.001) and completing an academic craniofacial fellowship program (odds ratio = 4.48, p = 0.020). A minority of craniofacial fellowship graduates practice academic craniofacial surgery. A strong academic craniofacial surgery background during residency and fellowship is associated with a future career in academic craniofacial surgery. These data may assist trainees choose training programs that align with career goals and educators select future academic surgeons. Copyright © 2017. Published by Elsevier Inc.

  2. Solitary Fibrous Tumor Arising from Stomach: CT Findings

    Science.gov (United States)

    Park, Sung Hee; Kwon, Jieun; Park, Jong-pil; Park, Mi-Suk; Lim, Joon Seok; Kim, Joo Hee; Kim, Ki Whang

    2007-01-01

    Solitary fibrous tumors are spindle-cell neoplasms that usually develop in the pleura and peritoneum, and rarely arise in the stomach. To our knowledge, there is only one case reporting a solitary fibrous tumor arising from stomach in the English literature. Here we report the case of a 26-year-old man with a large solitary fibrous tumor arising from the stomach which involved the submucosa and muscular layer and resembled a gastrointestinal stromal tumor in the stomach, based on what was seen during abdominal computed tomography. A solitary fibrous tumor arising from the stomach, although rare, could be considered as a diagnostic possibility for gastric submucosal tumors. PMID:18159603

  3. [Observational study of craniofacial growth and development in Mexican children].

    Science.gov (United States)

    Fijikami, T K; Cedeño Pacheco, E

    1991-01-01

    The election of a investigation about craniofacial growing and development in Mexican children, was done due to a lack of national information in this rubric and as a fundamental part of the "growing and development in the scholastic" module of the Universidad Autónoma Metropolitana-Xochimilco, which work hypothesis was that "craniofacial growing and development in Mexican, 6 to 12 children in Xochimilco area are due to nutritional deficiency, second dentition eruption delay and dental maloclution "which was totality confirmed in a 100 Mexican facial characteristic children field work study, with cephalometric studies which permit to determine the craniofacial growing standard. This study was corroborated with a 40 children, 4 years later follow up.

  4. Analysis of Craniofacial Images using Computational Atlases and Deformation Fields

    DEFF Research Database (Denmark)

    Ólafsdóttir, Hildur

    2008-01-01

    purposes. The basis for most of the applications is non-rigid image registration. This approach brings one image into the coordinate system of another resulting in a deformation field describing the anatomical correspondence between the two images. A computational atlas representing the average anatomy...... of asymmetry. The analyses are applied to the study of three different craniofacial anomalies. The craniofacial applications include studies of Crouzon syndrome (in mice), unicoronal synostosis plagiocephaly and deformational plagiocephaly. Using the proposed methods, the thesis reveals novel findings about...... the craniofacial morphology and asymmetry of Crouzon mice. Moreover, a method to plan and evaluate treatment of children with deformational plagiocephaly, based on asymmetry assessment, is established. Finally, asymmetry in children with unicoronal synostosis is automatically assessed, confirming previous results...

  5. Growth hormone therapy and craniofacial bones: a comprehensive review.

    Science.gov (United States)

    Litsas, G

    2013-09-01

    Growth hormone (GH) has significant effects on linear bone growth, bone mass and bone metabolism. The primary role of GH supplementation in children with GH deficiency, those born small for gestational age or with other types of disorders in somatic development is to increase linear growth. However, GH therapy seems to elicit varying responses in the craniofacial region. Whereas the effects of GH administration on somatic development are well documented, comparatively little is known of its effects on the craniofacial region. The purpose of this review was to search the literature and compile results from both animal and human studies related to the impact of GH on craniofacial growth. © 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Automated analysis of craniofacial morphology using magnetic resonance images.

    Directory of Open Access Journals (Sweden)

    M Mallar Chakravarty

    Full Text Available Quantitative analysis of craniofacial morphology is of interest to scholars working in a wide variety of disciplines, such as anthropology, developmental biology, and medicine. T1-weighted (anatomical magnetic resonance images (MRI provide excellent contrast between soft tissues. Given its three-dimensional nature, MRI represents an ideal imaging modality for the analysis of craniofacial structure in living individuals. Here we describe how T1-weighted MR images, acquired to examine brain anatomy, can also be used to analyze facial features. Using a sample of typically developing adolescents from the Saguenay Youth Study (N = 597; 292 male, 305 female, ages: 12 to 18 years, we quantified inter-individual variations in craniofacial structure in two ways. First, we adapted existing nonlinear registration-based morphological techniques to generate iteratively a group-wise population average of craniofacial features. The nonlinear transformations were used to map the craniofacial structure of each individual to the population average. Using voxel-wise measures of expansion and contraction, we then examined the effects of sex and age on inter-individual variations in facial features. Second, we employed a landmark-based approach to quantify variations in face surfaces. This approach involves: (a placing 56 landmarks (forehead, nose, lips, jaw-line, cheekbones, and eyes on a surface representation of the MRI-based group average; (b warping the landmarks to the individual faces using the inverse nonlinear transformation estimated for each person; and (3 using a principal components analysis (PCA of the warped landmarks to identify facial features (i.e. clusters of landmarks that vary in our sample in a correlated fashion. As with the voxel-wise analysis of the deformation fields, we examined the effects of sex and age on the PCA-derived spatial relationships between facial features. Both methods demonstrated significant sexual dimorphism in

  7. Developmental hip dysplasia in adolescence

    Directory of Open Access Journals (Sweden)

    Vukašinović Zoran

    2009-01-01

    Full Text Available The authors define adolescence and developmental dysplasia of the hip (DDH. Special attention is paid to pathological findings characteristic of DDH in adolescence (unrecognized and untreated DDH; treated DDH, but non-terminated treatment; DDH diagnosed with delay, inadequately treated, with complications. The authors emphasise that DDH treatment has to be successfully terminated well before the adolescence; possibilities are explained on management modes at the time of adolescence, and possible persons guilty for the persistence of later hip problems are indicated. Based on the authors' experience and having in mind all surgical possibilities for the treatment (pelvic osteotomies, femoral osteotomies, trochanteroplasties, leg length equalization procedures the authors propose treatment protocols. The intention is to provide better treatment results and to prevent secondary hip arthrosis. Furthermore, how to improve the struggle against DDH is suggested.

  8. Thanatophoric dysplasia: Antenatal to postmortem

    Directory of Open Access Journals (Sweden)

    Chanabasappa V Chavadi

    2015-01-01

    Full Text Available Thanatophoric dwarfism (TD, literally meaning death seeking dwarf, is the most common form of lethal bone dysplasia characterized by severe micromelia, extra folds of skin and narrow chest. Other signs include small ribs, underdeveloped lungs, cloverleaf skull, hypertelorism and protuberant abdomen. A short neck, depressed nasal bridge and hypoplastic mandible may also be present. Hydrocephalus is uncommon but is another poor prognostic sign. The diagnosis is usually made with the ultrasonography in the second trimester. Based on the morphological characters, this condition is sub-divided into type 1 and type 2. Fetuses with this condition are either still-born or die shortly after birth. Antenatal sonographic, postpartum radiological and autopsy findings of a case of type 1 TD with a relatively uncommon association of hydrocephalus is discussed.

  9. Ectodermal Dysplasia Skin Fragility Syndrome

    Directory of Open Access Journals (Sweden)

    Ayça Alan Atalay

    2014-06-01

    Full Text Available Ectodermal dysplasia-skin fragility syndrome (EDSFS is a rare autosomal recessive genodermatosis first described in 1997 by Mc Grath. EDSFS results from loss of function mutations in plakophilin-1 (PKP1. PKP1 is a structural component of desmosomes, cellcell adhesion complexes. It is also found as a nuclear protein in several cell types that are lack of desmosomes. In skin, however, PKP1 expression is confined mainly to suprabasal keratinocytes and the outer root sheath of hair follicules. Loss of function mutation in PKP1 leads to extensive skin fragility, bullae and erosions following minor trauma, focal keratoderma with painful fissures, alopecia, and nail dystrophy. In some patients hypohidrosis may also be seen. EDSFS is now considered as a specific suprabasal form of epidermolysis bullosa simplex. In this report we describe a 20 year old EDSFS case.

  10. Camptomelic dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    Koš Radmila

    2007-01-01

    Full Text Available Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome. Severe cases are inherited by autosomal dominant trait, by mutation Sox9 gene on chromosome 17, with lethal outcome in the first days of life. Less severe forms of the disease are due to balanced translocation t (13;17 with life span up to the third decade of life. A majority of karyotypic males present as phenotypic females. We report a case of a female neonate, without consanguinity between parents, with characteristic signs of camptomelic dysplasia with short birth length of 46 cm, macrocephaly (head circumference 39 cm, dolichocephaly, hydrocephalus, short trunk and legs. Narrow rib cage, bowed lower extremities, short hand and foot phalanges, nail hypoplasia were noticed. Anterior fontanelle was enlarged, high forehead, face small and flat, hypertelorism, low nasal bridge, micrognathia, low set ears, cleft palate, were found. Characteristic skin dimpling on anterior side of tibia was present on both legs. Bone X-ray studies presented the following changes: anterior bowing of shortened femurs, hip dislocation, cervical vertebrae, scapulas, eleven pairs of slender ribs. Hip luxation. Karyotype was normal for a female, 46 XX. Respiratory insufficiency was present since birth, exacerbated, and led to lethal outcome in the second day of life, as described in the majority of these patients. .

  11. The fourth dimension in simulation surgery for craniofacial surgical procedures.

    Science.gov (United States)

    Kurihara, T

    2001-03-01

    The intracranial volume was measured in all 18 cases of craniosynostosis and craniofacial synostosis with 3DCT using a modification of Miyake's formula, with a 6 years' follow-up. 1: There were no cases where the intracranial volume was less than the modified Miyake's formula. 2: Total cranial reshaping, compared to the local forehead advancement, was effective in increasing the intracranial cavity and growth postoperatively. 3: In cases of craniofacial synostosis, there is a possibility that mental retardation will develop if the intracranial volume tends to increase rapidly and more than expected.

  12. Complications in paediatric craniofacial surgery: an initial four year experience.

    Science.gov (United States)

    Jones, B M; Jani, P; Bingham, R M; Mackersie, A M; Hayward, R

    1992-04-01

    107 children undergoing transcranial craniofacial surgery in a paediatric hospital have been reviewed to assess the incidence and type of complications which arose. This represents the first 4 years' experience of the craniofacial team. There were no deaths or permanent adverse sequelae of surgery. A total of 53 complications were seen in 42 patients. In 9.3% of patients they were potentially life-threatening, serious in 12.1% and of a minor nature in 28%. The more serious complications were related either to haemorrhage and/or vasovagal shock at operation or to infection post-operatively. Infants undergoing monoblock frontofacial advancements and those with tracheostomies were at particular risk.

  13. Physical and chemical characteristics of fibrous peat

    Science.gov (United States)

    Sutejo, Yulindasari; Saggaff, Anis; Rahayu, Wiwik; Hanafiah

    2017-11-01

    Banyuasin is one of the regency in South Sumatera which has an area of 200.000 Ha of peat land. Peat soil are characterized by high compressibility parameters and low initial shear strength. Block sampling method was used to obtain undisturbed sample. The results of this paper describe the characteristics of peat soil from physical and chemical testing. The physical and chemical characteristics of peat include water content (ω), specific gravity (Gs), Acidity (pH), unit weight (γ), and ignition loss tests. SEM and EDS test was done to determine the differences in fiber content and to analyze chemical elements of the specimen. The average results ω, Gs, and pH are 263.538 %, 1.847, and 3.353. Peat is classified in H4 (by Von Post). The results of organic content (OC), ash content (AC), and fiber content (FC) are found 78.693 %, 21.310 %, and 73.703 %. From the results of physical and chemical tests, the peat in Banyuasin is classified as fibrous peat. All the results of the characteristics and classification of fibrous peat compared with published data were close.

  14. Imaging Findings of Fibrous Hamartoma of Infancy

    International Nuclear Information System (INIS)

    Rho, Byung Hak; Lee, Hee Jung; Kwon, Sun Young

    2009-01-01

    We wanted to evaluate the imaging findings of fibrous hamartoma of infancy (FHI). We retrospectively reviewed the clinical presentation and the sonographic (n = 5) and CT (n = 3) findings of 5 cases of surgically/pathologically confirmed FHI. The sonographic findings were evaluated according to the location, size, internal echogenicity and vascularity. The CT findings were evaluated according to the attenuation of the mass on both the pre- (n = 3) and postcontrast (n = 2) scans. The image findings were correlated with the pathologic findings. The mean age was 14.8 months (range, 7 months - 3 years). The location of lesions was all in the fatty layer of the back (n = 4) and upper arm (n = 1). All the lesions demonstrated-hypertrichosis on the overlying skin. The lesions measured 31.2 mm in the longest diameter (range: 18 mm - 50 mm). The sonographic findings were purely solid, heterogeneously hyperechoic and hypovacular for all the cases. The internal architecture revealed a 'layering' appearance (n = 3). The CT findings demonstrated isoattenuation, as compared to the adjacent muscle on both the pre- and postcontrast CT scans. The pathologic correlation demonstrated a characteristic 'organoid' mixture of fibrous, mucoid and fatty tissues in all cases. The diagnosis of FHI can be suggested by the sonographic findings of a superficially located, heterogeneous solid mass with a 'layering' appearance in the fatty layer of the back or arms of infants with local hypertrochosis on the overlying skin

  15. Beta-structures in fibrous proteins.

    Science.gov (United States)

    Kajava, Andrey V; Squire, John M; Parry, David A D

    2006-01-01

    The beta-form of protein folding, one of the earliest protein structures to be defined, was originally observed in studies of silks. It was then seen in early studies of synthetic polypeptides and, of course, is now known to be present in a variety of guises as an essential component of globular protein structures. However, in the last decade or so it has become clear that the beta-conformation of chains is present not only in many of the amyloid structures associated with, for example, Alzheimer's Disease, but also in the prion structures associated with the spongiform encephalopathies. Furthermore, X-ray crystallography studies have revealed the high incidence of the beta-fibrous proteins among virulence factors of pathogenic bacteria and viruses. Here we describe the basic forms of the beta-fold, summarize the many different new forms of beta-structural fibrous arrangements that have been discovered, and review advances in structural studies of amyloid and prion fibrils. These and other issues are described in detail in later chapters.

  16. Angiomatoid fibrous histiocytoma: novel MR imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Martinez, Salutario J.; Vinson, Emily N. [Duke University Medical Center, Department of Radiology, Durham, NC (United States); Moreno, Courtney Coursey [Emory University School of Medicine, Department of Radiology and Imaging Sciences, Atlanta, GA (United States); Dodd, Leslie G. [University of North Carolina School of Medicine, Department of Pathology and Laboratory Medicine, Chapel Hill, NC (United States); Brigman, Brian E. [Duke University Medical Center, Department of Orthopedic Surgery, Durham, NC (United States)

    2016-05-15

    To describe novel MR imaging features, and clinical characteristics of soft tissue angiomatoid fibrous histiocytoma (AFH) at presentation, local recurrence, and metastases. We described the MRI findings of six cases of histologically proven AFH. Pathologic findings, clinical presentation, and outcome were reviewed. Lesions were primarily cystic. At initial presentation, tumors were surrounded by low signal intensity fibrous pseudocapsule. High signal intensity consistent with the lymphoplasmacytic infiltrate was seen in T2-weighted and post-contrast images as a rim over the hypointense pseudocapsule (double rim sign). High signal intensity infiltrating tumoral cords extended into adjacent tissues, through pseudocapsular defects on T2-weighted and post-contrast images. The cystic component and tumor cell nodularity were demonstrated at post-contrast images. Clinically, lesions were often thought to be benign, underwent marginal resection, developed local recurrence, and one developed second recurrence consisting of metastases. Recurrent tumors appeared as multiple masses, misinterpreted as post-surgical changes. An intramuscular recurrence demonstrated double rim and infiltrating margin. A predominantly well-circumscribed, primarily cystic mass with double-rim and marginal infiltration on MRI suggests the possibility of AFH, in particular in child or young adult. Inclusion of these novel observations in AFH differential diagnosis may have a significant impact on treatment and prevention of recurrence. (orig.)

  17. Angiomatoid fibrous histiocytoma: novel MR imaging findings

    International Nuclear Information System (INIS)

    Martinez, Salutario J.; Vinson, Emily N.; Moreno, Courtney Coursey; Dodd, Leslie G.; Brigman, Brian E.

    2016-01-01

    To describe novel MR imaging features, and clinical characteristics of soft tissue angiomatoid fibrous histiocytoma (AFH) at presentation, local recurrence, and metastases. We described the MRI findings of six cases of histologically proven AFH. Pathologic findings, clinical presentation, and outcome were reviewed. Lesions were primarily cystic. At initial presentation, tumors were surrounded by low signal intensity fibrous pseudocapsule. High signal intensity consistent with the lymphoplasmacytic infiltrate was seen in T2-weighted and post-contrast images as a rim over the hypointense pseudocapsule (double rim sign). High signal intensity infiltrating tumoral cords extended into adjacent tissues, through pseudocapsular defects on T2-weighted and post-contrast images. The cystic component and tumor cell nodularity were demonstrated at post-contrast images. Clinically, lesions were often thought to be benign, underwent marginal resection, developed local recurrence, and one developed second recurrence consisting of metastases. Recurrent tumors appeared as multiple masses, misinterpreted as post-surgical changes. An intramuscular recurrence demonstrated double rim and infiltrating margin. A predominantly well-circumscribed, primarily cystic mass with double-rim and marginal infiltration on MRI suggests the possibility of AFH, in particular in child or young adult. Inclusion of these novel observations in AFH differential diagnosis may have a significant impact on treatment and prevention of recurrence. (orig.)

  18. Acro-mesomelic dysplasia - a new type

    International Nuclear Information System (INIS)

    Brahimi, L.; Bacha, L.; Kozlowski, K.; Massen, R.; Zenati, M.

    1988-01-01

    Two siblings who represent a new type of acro-mesomelic dysplasia are reported. The unique pattern of the acro-mesomelic hypoplastic/dysplastic changes allows us to designate as a new syndrome. (orig.)

  19. Andhidrotic ectodermal dysplasia-autosomal recessive form

    Directory of Open Access Journals (Sweden)

    Inamadar Arun

    1994-01-01

    Full Text Available Anhidrotic ectodermal dysplasia with classical features in 2 sisters is reported. The mode of inheritance in these seems to be autosomal recessive; which is a very rare occurrence.

  20. Bilateral anophthalmia with septo-optic dysplasia

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2010-01-01

    Full Text Available Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even rare condition. The condition is characterized by absent eyeballs in the presence of eyelids, conjunctiva or lacrimal apparatus. Though anophthalmia can be diagnosed clinically, imaging plays a crucial role in delineating the associated anomalies. In addition, often clinical anophthalmia may prove to be severe microphthalmia on imaging. We describe the imaging findings in an infant with bilateral anophthalmia and septo-optic dysplasia.

  1. Hip dysplasia and congenital hip dislocation

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; Nebel, G.; von Torklus, D.

    1981-11-01

    In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

  2. Dysplasia epiphysealis hemimelica of the tibial tubercle

    Energy Technology Data Exchange (ETDEWEB)

    Thacker, M.M.; Scully, S.P.; Pitcher, J.D.; Temple, H. Thomas [University of Miami, Department of Orthopedics and Rehabilitation, FL (United States); Azouz, E.M. [University of Miami, Department of Radiology, FL (United States)

    2006-03-15

    Dysplasia epiphysealis hemimelica (DEH) is a rare skeletal dysplasia with epiphyseal involvement first described by Mouchet and Belot in 1926. Lower extremity involvement is common and might involve a single or multiple epiphyses in the affected extremity. We report an unusual case of involvement of the tibial tubercle in a girl aged 4 years 8 months, and we present the clinical, radiographic and pathologic findings. We discuss the role of MRI in the diagnosis and treatment plan. (orig.)

  3. Case report 525: Benign fibrous histiocytoma (BFH) of thumb

    International Nuclear Information System (INIS)

    Statz, E.M.; Philipps, E.; Pochebit, S.M.; Cooper, A.; Leslie, B.M.

    1989-01-01

    A case was presented of benign fibrous histiocytoma (BFH) involving the distal phalanx of the thumb, a location heretofore not described in the literature. The distinction between BFH and other lesions (e.g. non-ossifying fibroma) was considered in depth. The distinction between benign and malignant fibrous histiocytoma was also described. (orig.)

  4. Formation of fibrous materials from dense caseinate dispersions

    NARCIS (Netherlands)

    Manski, J.M.; Goot, van der A.J.; Boom, R.M.

    2007-01-01

    Application of shear and cross-linking enzyme transglutaminase (Tgase) induced fibrous hierarchical structures in dense (30% w/w) calcium caseinate (Ca-caseinate) dispersions. Using Tgase was essential for the anisotropic structure formation. The fibrous materials showed anisotropy on both micro-

  5. Electrospun nanocomposite fibrous polymer electrolyte for secondary lithium battery applications

    International Nuclear Information System (INIS)

    Padmaraj, O.; Rao, B. Nageswara; Jena, Paramananda; Satyanarayana, N.; Venkateswarlu, M.

    2014-01-01

    Hybrid nanocomposite [poly(vinylidene fluoride -co- hexafluoropropylene) (PVdF-co-HFP)/magnesium aluminate (MgAl 2 O 4 )] fibrous polymer membranes were prepared by electrospinning method. The prepared pure and nanocomposite fibrous polymer electrolyte membranes were soaked into the liquid electrolyte 1M LiPF 6 in EC: DEC (1:1,v/v). XRD and SEM are used to study the structural and morphological studies of nanocomposite electrospun fibrous polymer membranes. The nanocomposite fibrous polymer electrolyte membrane with 5 wt.% of MgAl 2 O 4 exhibits high ionic conductivity of 2.80 × 10 −3 S/cm at room temperature. The charge-discharge capacity of Li/LiCoO 2 coin cells composed of the newly prepared nanocomposite [(16 wt.%) PVdF-co-HFP+(5 wt.%) MgAl 2 O 4 ] fibrous polymer electrolyte membrane was also studied and compared with commercial Celgard separator

  6. Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

    NARCIS (Netherlands)

    Morstert, AK; Dijkstra, PF; van Horn, [No Value; Jansen, BRH; Heutink, P; Lindhout, D

    Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959 [1], is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84

  7. CRANIOFACIAL MORPHOLOGY AND DENTAL OCCLUSION IN ADULTS WITH OSTEOGENESIS IMPERFECTA

    DEFF Research Database (Denmark)

    Gjørup, Hans; Hald, Jannie Dahl; Harsløf, Torben

    AIMS: To compare craniofacial characteristics and variation in dental occlusion according to severity of osteogenesis imperfecta (OI). OI is a rare inherited disease with fragility of bone and teeth because of abnormalities in the formation of collagen. METHODS: A total of 73 patients...

  8. The future of research in craniofacial biology and what this will mean for oral health professional education and clinical practice.

    Science.gov (United States)

    Slavkin, H C

    2014-06-01

    Today, and looking to the future, scientific discoveries from cellular, developmental and molecular biology inform our understanding of cell, tissue and organ morphogenesis as exemplified in skin, bone, cartilage, dentine, enamel, muscle, nerve and many organs such as salivary glands and teeth. Present day biomedical science yields principles for the biomimetic design and fabrication of cells, tissues and organs. Bioengineering has become a strategy that can 'mimic' biological processes, and inform clinical procedures for tissue and organ replacements. The future of regenerative craniofacial biology holds enormous promise for the diagnosis and treatment of congenital birth defects, traumatic injuries, degenerative chronic diseases as well as for Mendelian single gene and complex multigene diseases and disorders. The past 50 years have heralded the completion of the human genome and the introduction of 'personalized medicine and dentistry', the utilization of stem cell therapy for an array of diseases and disorders, the 'proof of principle' to reverse select inherited diseases such as anhidrotic ectodermal dysplasia (ED), and the fruits from interdisciplinary research drawn from the diverse biomedical sciences. Looking to the future, we can readily anticipate as major goals to emphasize the clinician's role in identifying clinical phenotypes that can lead to differential diagnosis, and rejuvenate missing or damaged tissues by establishing processes for the utilization of gene, cell and/or protein therapies. The future is replete with remarkable opportunities to enhance clinical outcomes for congenital as well as acquired craniofacial malformations. Clinicians play a pivotal role because critical thinking and sound clinical acumen substantially improve diagnostic precision and thereby clinical health outcomes. © 2014 Australian Dental Association.

  9. Malignant fibrous histiocytoma of the abdominal wall

    Directory of Open Access Journals (Sweden)

    Arif Aslaner

    2015-01-01

    Full Text Available Malignant fibrous histiocytoma (MFH or undifferentiated pleomorphic sarcoma is a type of malignt neoplasm that arises from any soft tissue and bone involving extremities, abdomen and retroperitoneum. MFH of the external oblique abdominis muscle is rare. Surgical resection of the mass is the treatment of choice depending on the stage of the disease and the invasion depth of the tumor. Radiotherapy, chemotherapy and immunotherapy are the other treatment methods. We present a case of a 71-year old man with the diagnosis of MFH on external oblique muscle which was completely resected. We believe that adjuvant chemoradiotherapy following surgical resection of the tumor was the most appropriate treatment for this disease.

  10. Compressibility of air in fibrous materials

    DEFF Research Database (Denmark)

    Tarnow, Viggo

    1996-01-01

    The dynamic compressibility of air in fibrous materials has been computed for two assumed configurations of fibers which are close to the geometry of real fiber materials. Models with parallel cylinders placed in a regular square lattice and placed randomly are treated. For these models...... the compressibility is computed approximately from the diameter and mean distances between cylinders. This requires calculation of the air temperature, which is calculated for cylinders in a regular lattive by the Wigner-Seitz cell approximation. In the case of random placement, the calculation is done by a summation...... over thermal waves from all fibers, and by a self-consistent procedure. Figuren of the compressibility in the frequency range 10-100 000 Hz, are given for diameter of the cylinders of 6.8 µm, and mean distances between them from 50 to 110 µm, which corresponds to glass wool with a density of 40 to 16...

  11. A solitary fibrous tumor of the kidney

    Directory of Open Access Journals (Sweden)

    Anuruddha M Abeygunasekera

    2015-01-01

    Full Text Available A solitary fibrous tumor (SFT is an uncommon spindle cell neoplasm that usually occurs in the pleura, but may occur in extrapleural sites. Its occurrence in the kidney is rare. We report a SFT, clinically thought to be a renal cell carcinoma arising in the kidney of a 68-year-old female. The tumor was well-circumscribed and composed of a mixture of spindle cells and dense collagenous bands. Immunohistochemical studies revealed reactivity for CD34, CD99, and Bcl-2 protein, with no staining for keratin or muscle markers, confirming the diagnosis. The immunohistochemical study was the key to diagnosis. Several younger members of her family had colorectal and lung cancers suggesting the possibility of a familial or genetic susceptibility.

  12. Imaging of soft tissue malignant fibrous histiocytoma

    International Nuclear Information System (INIS)

    Jemni, H.; Bakir, D.; Ben Ahmed, S.; Kraiem, C.; Mrad Dali, K.; Tlili-Graiess, K.; Mnif, Z.; Jeddi, M.

    1996-01-01

    Malignant fibrous histiocytoma (MFH) is a rare and potentially highly malignant sarcoma. The authors report 6 cases of MFH in various sites : two in the chest wall, one in the pelvis, two in the gluteal zones and one on the scalp. Ultrasonography and computed tomography were the main imaging methods used in the assessment of the structure and extension of the tumor. A poor prognosis was noted in four cases: death within a few months in the two thoracic sites, recurrence in the pelvic and scalp lesions, radical surgery allowed recovery in two cases. A review of the literature showed that MRI and CT are complementary in the initial staging and follow-up these patients. (author)

  13. Calcified fibrous pseudotumor of spermatic cord

    International Nuclear Information System (INIS)

    Rodriguez Collar, Tomas Lazaro; Valdes Estevez, Brasily; Nagua Valencia, Miguel Angel; Salinas Olivares, Mercedes Rita

    2009-01-01

    Paratesticular tumors are infrequent and most are benigns. This a case presentation of a patient aged 24 with a history of good health coming to our consultation by presence of a hard and painless 4 cm tumor in right scrotum with a 6 months course. Scrotal ultrasound (US) showed a well circumscribed heterogeneous lesion separate of epididymis and the testis. Fine needle aspiration biopsy (FNAB) was not possible by hardness of tumor. A inguinal surgery was performed and the total tumor exeresis using freezing biopsy negative of malignancy. Final histopathological report was: calcified fibrous pseudotumor of spermatic cord. Patient's course has been satisfactory. Significance of inguinal surgery was confirmed for the paratesticular tumor approach, even more when FNAB it is not conclusive for diagnosis.(author)

  14. Growth hormone positive effects on craniofacial complex in Turner syndrome.

    Science.gov (United States)

    Juloski, Jovana; Dumančić, Jelena; Šćepan, Ivana; Lauc, Tomislav; Milašin, Jelena; Kaić, Zvonimir; Dumić, Miroslav; Babić, Marko

    2016-11-01

    Turner syndrome occurs in phenotypic females with complete or partial absence of X chromosome. The leading symptom is short stature, while numerous but mild stigmata manifest in the craniofacial region. These patients are commonly treated with growth hormone to improve their final height. The aim of this study was to assess the influence of long-term growth hormone therapy on craniofacial morphology in Turner syndrome patients. In this cross-sectional study cephalometric analysis was performed on 13 lateral cephalograms of patients with 45,X karyotype and the average age of 17.3 years, who have received growth hormone for at least two years. The control group consisted of 13 Turner syndrome patients naive to growth hormone treatment, matched to study group by age and karyotype. Sixteen linear and angular measurements were obtained from standard lateral cephalograms. Standard deviation scores were calculated in order to evaluate influence of growth hormone therapy on craniofacial components. In Turner syndrome patients treated with growth hormone most of linear measurements were significantly larger compared to untreated patients. Growth hormone therapy mainly influenced posterior face height, mandibular ramus height, total mandibular length, anterior face height and maxillary length. While the increase in linear measurements was evident, angular measurements and facial height ratio did not show statistically significant difference. Acromegalic features were not found. Long-term growth hormone therapy has positive influence on craniofacial development in Turner syndrome patients, with the greatest impact on posterior facial height and mandibular ramus. However, it could not compensate X chromosome deficiency and normalize craniofacial features. Copyright © 2016 Elsevier Ltd. All rights reserved.

  15. Academic Productivity of Faculty Associated With Craniofacial Surgery Fellowship Programs.

    Science.gov (United States)

    Ruan, Qing Zhao; Ricci, Joseph A; Silvestre, Jason; Ho, Olivia A; Ganor, Oren; Lee, Bernard T

    2017-11-01

    The H-index is increasingly being used as a measure of academic productivity and has been applied to various surgical disciplines. Here the authors calculate the H-index of craniofacial surgery fellowship faculty in North America in order to determine its utility for academic productivity among craniofacial surgeons. A list of fellowship programs was obtained from the website of the American Society of Craniofacial Surgery. Faculty demographics and institution characteristics were obtained from official program websites and the H-index was calculated using Scopus (Elsevier, USA). Data were assessed using bivariate analysis tools (Kruskal-Wallis and Mann-Whitney tests) to determine the relationship between independent variables and career publications, H-index and 5-year H-index (H5-index) of faculty. Dunn test for multiple comparisons was also calculated. A total of 102 faculty members from 29 craniofacial surgery fellowship programs were identified and included. Faculty demographics reflected a median age of 48 (interquartile range [IQR] 13), a predominantly male sample (88/102, 89.7%), and the rank of assistant professor being the most common among faculty members (41/102, 40.2%). Median of career publications per faculty was 37 (IQR 52.5) and medians of H-index and H5-index were 10.0 (IQR 13.75) and 3.5 (IQR 3.25), respectively. Greater age, male gender, Fellow of the American College of Surgeons membership, higher academic rank, and program affiliation with ranked research medical schools were significantly associated with higher H-indices. Variables associated with seniority were positively associated with the H-index. These results suggest that the H-index may be used as an adjunct in determining academic productivity for promotions among craniofacial surgeons.

  16. Expansive focal cemento-osseous dysplasia.

    Science.gov (United States)

    Bulut, Emel Uzun; Acikgoz, Aydan; Ozan, Bora; Zengin, Ayse Zeynep; Gunhan, Omer

    2012-01-01

    To present a case of expansive focal cemento-osseous dysplasia and emphasize the importance of differential diagnosis. Cemento-osseous dysplasia is categorized into three subtypes on the basis of the clinical and radiographic features: Periapical, focal and florid. The focal type exhibits a single site of involvement in any tooth-bearing or edentulous area of the jaws. These lesions are usually asymptomatic; therefore, they are frequently diagnosed incidentally during routine radiographic examinations. Lesions are usually benign, show limited growth, and do not require further surgical intervention, but periodic follow-up is recommended because occasionally, this type of dysplasia progresses into florid osseous dysplasia and simple bone cysts are formed. A 24-year-old female patient was referred to our clinic for swelling in the left edentulous mandibular premolarmolar region and felt discomfort when she wore her prosthetics. She had no pain, tenderness or paresthesia. Clinical examination showed that the swelling in the posterior mandible that was firm, nonfluctuant and covered by normal mucosa. On panoramic radiography and computed tomography, a well defined lesion of approximately 1.5 cm in diameter of mixed density was observed. The swelling increased slightly in size over 2 years making it difficult to use prosthetics and, therefore, the lesion was totally excised under local anesthesia, and surgical specimens were submitted for histopathological examination. The histopathological diagnosis was focal cemento-osseous dysplasia. In the present case, because of the increasing size of the swelling making it difficult to use prosthetics, young age of the patient and localization of the lesion, in the initial examination, cemento-ossifying fibroma was suspected, and the lesion was excised surgically; the histopathological diagnosis confirmed it as focal cemento-osseous dysplasia. We present a case of expansive focal cemento-osseous dysplasia. Differential diagnosis

  17. Efficient coupling of Sec23-Sec24 to Sec13-Sec31 drives COPII-dependent collagen secretion and is essential for normal craniofacial development.

    Science.gov (United States)

    Townley, Anna K; Feng, Yi; Schmidt, Katy; Carter, Deborah A; Porter, Robert; Verkade, Paul; Stephens, David J

    2008-09-15

    The COPII coat assembles on endoplasmic reticulum membranes to coordinate the collection of secretory cargo with the formation of transport vesicles. During COPII assembly, Sar1 deforms the membrane and recruits the Sec23-Sec24 complex (Sec23/24), which is the primary cargo-binding adaptor for the system, and Sec13-Sec31 (Sec13/31), which provides a structural outer layer for vesicle formation. Here we show that Sec13 depletion results in concomitant loss of Sec31 and juxtanuclear clustering of pre-budding complexes containing Sec23/24 and cargo. Electron microscopy reveals the presence of curved coated profiles on distended endoplasmic reticulum, indicating that Sec13/31 is not required for the generation or maintenance of the curvature. Surprisingly, export of tsO45-G-YFP, a marker of secretory cargo, is unaffected by Sec13/31 depletion; by contrast, secretion of collagen from primary fibroblasts is strongly inhibited. Suppression of Sec13 expression in zebrafish causes defects in proteoglycan deposition and skeletal abnormalities that are grossly similar to the craniofacial abnormalities of crusher mutant zebrafish and patients with cranio-lenticulo-sutural dysplasia. We conclude that efficient coupling of the inner (Sec23/24) and outer (Sec13/31) layers of the COPII coat is required to drive the export of collagen from the endoplasmic reticulum, and that highly efficient COPII assembly is essential for normal craniofacial development during embryogenesis.

  18. Progressive pseudorheumatoid dysplasia in North and West Africa ...

    African Journals Online (AJOL)

    Progressive pseudorheumatoid dysplasia is a rare autosomal recessive spondyloepiphyseal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Short stature, joint contractures, gait disturbance, and scoliosis and/or ...

  19. Spondylometaepiphyseal dysplasia in a mother and her child

    Energy Technology Data Exchange (ETDEWEB)

    Pettersson, H; Nilsson, K O [Section of Pediatric Radiology, Department of Diagnostic Radiology, and the Department of Pediatrics, Malmoe Allmaenna Sjukhus, Malmoe, Sweden

    1979-01-01

    Variant types of spondylometaepiphyseal dysplasia in a mother and her child is reported. Several stages of the disorder are presented, demonstrating the principal difficulties in distinguishing variant types of skeletal dysplasia.

  20. Solitary Fibrous Tumor Arising from Stomach: CT Findings

    OpenAIRE

    Park, Sung Hee; Kim, Myeong-Jin; Kwon, Jieun; Park, Jong-pil; Park, Mi-Suk; Lim, Joon Seok; Kim, Joo Hee; Kim, Ki Whang

    2007-01-01

    Solitary fibrous tumors are spindle-cell neoplasms that usually develop in the pleura and peritoneum, and rarely arise in the stomach. To our knowledge, there is only one case reporting a solitary fibrous tumor arising from stomach in the English literature. Here we report the case of a 26-year-old man with a large solitary fibrous tumor arising from the stomach which involved the submucosa and muscular layer and resembled a gastrointestinal stromal tumor in the stomach, based on what was see...

  1. Craniofacial CT findings of Gorham-Stout disease and generalized lymphatic anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Kato, Hiroki; Matsuo, Masayuki [Gifu University School of Medicine, Department of Radiology, Gifu (Japan); Ozeki, Michio; Fukao, Toshiyuki [Gifu University School of Medicine, Department of Pediatrics, Gifu (Japan)

    2016-08-15

    The present study aimed to assess the craniofacial CT imaging features for differentiating between Gorham-Stout disease (GSD) and generalized lymphatic anomaly (GLA). Seven patients with GSD and four patients with GLA were included in this study. All patients underwent CT examinations that encompassed the craniofacial bones. The presence, distribution, and type of craniofacial osteolysis were assessed. The clinical symptoms that were associated with craniofacial osteolysis were also reviewed. Craniofacial osteolysis including cranial osteolysis was seen in four of seven (57 %) patients with GSD and in three of four (75 %) patients with GLA. Facial osteolysis was seen in two (29 %) patients with GSD, but this was not observed in patients with GLA. Among patients with craniofacial osteolysis, those with GSD showed diffuse involvement, whereas those with GLA showed multifocal involvement. The craniofacial osteolysis of GSD could be classified into three patterns: medullary involvement, thinning bone, and disappearing bone. The clinical symptoms of craniofacial osteolysis were observed in all patients with GSD but were not present in patients with GLA. Craniofacial involvement was observed in both groups. The craniofacial osteolysis of GSD showed diffuse involvement with clinical symptoms, whereas that of GLA showed multifocal involvement without clinical symptoms. (orig.)

  2. Florid Cemento-osseous Dysplasia: A Case of Misdiagnosis.

    Science.gov (United States)

    Delai, Débora; Bernardi, Anarela; Felippe, Gabriela Santos; da Silveira Teixeira, Cleonice; Felippe, Wilson Tadeu; Santos Felippe, Mara Cristina

    2015-11-01

    Florid cemento-osseous dysplasia (FCOD) belongs to the group of fibro-osseous lesions in which normal bone is replaced by fibrous connective tissue and calcified cementum tissue of the avascular type. Among the various types of fibro-osseous lesions, FCOD is one of the most commonly encountered diseases in clinical practice and may involve 3 or 4 of the quadrants. FCOD is located in the periapical regions of teeth, and the lesions are predominantly radiolucent (osteolytic phase), become mixed over time (cementoblast phase), and ultimately become radiopaque (osteogenic phase) with a thin radiolucent peripheral halo. The characteristics of FCOD in the initial stages are similar to those of periapical lesions of inflammatory origin, which may lead to misdiagnosis. A 38-year-old woman sought dental care because of complaints of pain on the right side of her face. A clinical examination revealed no marked alterations; a panoramic radiograph was therefore requested and revealed the presence of radiolucent lesions associated with the periapical regions of some of the lower teeth. Thus, the professional referred the patient for endodontic treatment of the associated teeth with the justification that the lesions were of endodontic origin. However, the endodontist found that the teeth responded positively to a sensitivity test. The initial diagnosis could have resulted in unnecessary root canal treatment, but after careful clinical, radiographic, and tomographic assessments by different professionals, FCOD was diagnosed, conservatively treated, and regularly monitored. It is important that dentists have a basic knowledge of the various injuries that affect the jaw bones to prevent errors in diagnosis and treatment and to promote oral health. Copyright © 2015 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

  3. Ectodermal dysplasia associated with sickle cell disease.

    Science.gov (United States)

    Volpato, Luiz Evaristo Ricci; Volpato, Maria Carmen Palma Faria; de Carvalhosa, Artur Aburad; Palma, Vinicius Canavarros; Borges, Alvaro Henrique

    2014-01-01

    Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

  4. Ectodermal Dysplasia Associated with Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Luiz Evaristo Ricci Volpato

    2014-01-01

    Full Text Available Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

  5. Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma

    International Nuclear Information System (INIS)

    Kahn, Leonard B.

    2003-01-01

    For just over 100 years, adamantinoma has been recognized as a primary bone tumor with epithelial characteristics and predominantly involving the tibia. Osteofibrous dysplasia is a fibro-osseous lesion also predominantly confined to the tibia with radiologic features similar to those of adamantinoma. This lesion has been shown by immunohistochemical studies to frequently contain cytokeratin-positive epithelial cells. More recently, a third group of cases with clinical and radiologic features similar to those of osteofibrous dysplasia have demonstrated more overt strands of epithelial cells within a fibro-osseous background and have been categorized as ''differentiated'', ''regressive'', ''juvenile intracortical'' or ''osteofibrous dysplasia-like'' adamantinoma. Cytokeratin subset immunohistochemical stains and cytogenetic studies performed in recent years suggest a common histogenesis for these three entities. This article reviews the clinical, radiologic and pathologic features of these entities as well as their prognostic significance. It also reviews the results of the immunohistochemical and cytogenetic studies which establish a common histogenetic relationship. (orig.)

  6. Variable manifestations of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

    Azouz, E.M.; Slomic, A.M.; Marton, D.; Rigault, P.; Finidori, G.

    1985-01-01

    Dysplasia epiphysealis hemimelica (DEH) is an osteocartilaginous overgrowth involving one or multiple epiphyses or ossification centers, usually in a lower extremity on one side of the body. Characteristically the involvement is hemimelic, i.e., either the medial or lateral part of the ossification center is involved. The authors have studied 24 patients with DEH and are adding 15 new cases to the literature. Because of the variable manifestations of the dysplasia and its different degrees of involvement in the affected children, they have subdivided it into localized, classical and generalized. In the generalized form, there is involvement of a whole lower extremity from the pelvis to the foot, and some of these patients show megaepiphyses with enlargement of a whole epiphyseal center, not only its medial or lateral part. The authors have also described and illustrated other special features of the dysplasia especially the advanced bone age and the metaphyseal and growth plate involvement.

  7. Lung volume reduction surgery in bronchopulmonary dysplasia.

    Science.gov (United States)

    Siaplaouras, J; Heckmann, M; Reiss, I; Schaible, T; Waag, K L; Gortner, L

    2003-06-01

    We report on a female preterm infant of 29 wk gestational age, who developed acquired lobar emphysema after prolonged artificial ventilation secondary to respiratory disease syndrome and bronchopulmonary dysplasia. The infant underwent atypical segmentectomy at the age of 12 mo because of life-threatening hypoxaemia with pulmonary hypertension and failure of conservative treatment. Lung volume reduction surgery (LVRS) dramatically improved the respiratory function and resulted in adequate weight gain and psychomotor development. In selected cases LVRS can be an option for lobar emphysema in premature infants with severe bronchopulmonary dysplasia.

  8. Rasmussen's encephalitis presenting as focal cortical dysplasia

    Directory of Open Access Journals (Sweden)

    D.J. O'Rourke

    2014-01-01

    Full Text Available Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD and discuss the literature on this topic.

  9. Rasmussen's encephalitis presenting as focal cortical dysplasia

    Science.gov (United States)

    O'Rourke, D.J.; Bergin, A.; Rotenberg, A.; Peters, J.; Gorman, M.; Poduri, A.; Cryan, J.; Lidov, H.; Madsen, J.; Harini, C.

    2014-01-01

    Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD) and discuss the literature on this topic. PMID:25667877

  10. Sponastrime dysplasia. A radiologic-pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Lachman, R S; Stoss, H; Spranger, J

    1989-07-01

    The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.).

  11. Sponastrime dysplasia. A radiologic-pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Lachman, R.S.; Stoss, H.; Spranger, J.

    1989-07-01

    The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.).

  12. Occipital projections in the skeletal dysplasias

    International Nuclear Information System (INIS)

    Takamine, Yuji; Field, Fiona M.; Lachman, Ralph S.; Rimoin, David L.

    2004-01-01

    Occipital projections of the cranium have been reported in a number of skeletal dysplasias and syndromes. We observed two cases of atelosteogenesis type I with a bony occipital projection. This finding has neither been noted nor reported in any form of atelosteogenesis. This led us to search the International Skeletal Dysplasia Registry for occipital projections, and we found them in four other syndromes in which they had not been reported. Thus occipital spurs are a non-diagnostic feature that can be found in at least ten distinct disorders as well as a normal variant. (orig.)

  13. Treating Fibrous Insulation to Reduce Thermal Conductivity

    Science.gov (United States)

    Zinn, Alfred; Tarkanian, Ryan

    2009-01-01

    A chemical treatment reduces the convective and radiative contributions to the effective thermal conductivity of porous fibrous thermal-insulation tile. The net effect of the treatment is to coat the surfaces of fibers with a mixture of transition-metal oxides (TMOs) without filling the pores. The TMO coats reduce the cross-sectional areas available for convection while absorbing and scattering thermal radiation in the pores, thereby rendering the tile largely opaque to thermal radiation. The treatment involves a sol-gel process: A solution containing a mixture of transition-metal-oxide-precursor salts plus a gelling agent (e.g., tetraethylorthosilicate) is partially cured, then, before it visibly gels, is used to impregnate the tile. The solution in the tile is gelled, then dried, and then the tile is fired to convert the precursor salts to the desired mixed TMO phases. The amounts of the various TMOs ultimately incorporated into the tile can be tailored via the concentrations of salts in the solution, and the impregnation depth can be tailored via the viscosity of the solution and/or the volume of the solution relative to that of the tile. The amounts of the TMOs determine the absorption and scattering spectra.

  14. Intracranial solitary fibrous tumor: Imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Clarencon, Frederic, E-mail: fredclare5@msn.com [Department of Neuroradiology, Pitie-Salpetriere Hospital, APHP, 75013 Paris (France); Bonneville, Fabrice [Department of Neuroradiology, Hopital Rangueil, Toulouse University Hospital, 31000 Toulouse (France); Rousseau, Audrey [Department of Neuropathology, Pitie-Salpetriere Hospital (France); Galanaud, Damien [Department of Neuroradiology, Pitie-Salpetriere Hospital, APHP, 75013 Paris (France); Kujas, Michele [Department of Neuropathology, Pitie-Salpetriere Hospital (France); Naggara, Olivier [Department of Neuroradiology, St Anne Hospital, 75014 Paris (France); Cornu, Philippe [Department of Neurosurgery, Pitie-Salpetriere Hospital (France); Chiras, Jacques [Department of Neuroradiology, Pitie-Salpetriere Hospital, APHP, 75013 Paris (France)

    2011-11-15

    Objective: To study the neuroimaging features of intracranial solitary fibrous tumors (ISFTs). Materials and methods: Retrospective study of neuroimaging features of 9 consecutive histopathologically proven ISFT cases. Location, size, shape, density, signal intensity and gadolinium uptake were studied at CT and MRI. Data collected from diffusion-weighted imaging (DWI) (3 patients), perfusion imaging and MR spectroscopy (2 patients), and DSA (4 patients) were also analyzed. Results: The tumors most frequently arose from the intracranial meninges (7/9), while the other lesions were intraventricular. Tumor size ranged from 2.5 to 10 cm (mean = 6.6 cm). They presented multilobular shape in 6/9 patients. Most ISFTs were heterogeneous (7/9) with areas of low T2 signal intensity that strongly enhanced after gadolinium administration (6/8). Erosion of the skull was present in about half of the cases (4/9). Components with decreased apparent diffusion coefficient were seen in 2/3 ISFTs on DWI. Spectroscopy revealed elevated peaks of choline and myo-inositol. MR perfusion showed features of hyperperfusion. Conclusion: ISFT should be considered in cases of extra-axial, supratentorial, heterogeneous, hypervascular tumor. Areas of low T2 signal intensity that strongly enhance after gadolinium injection are suggestive of this diagnosis. Restricted diffusion and elevated peak of myo-inositol may be additional valuable features.

  15. Impregnated Fibrous Materials. Report of a Study Group on Impregnated Fibrous Materials

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1968-10-15

    There has recently been renewed interest in the use of radiation from radioisotopes or particle accelerators to initiate and sustain chemical reactions. Particular attention is being paid to the production of wood-plastic composites, a process which is now a commercial reality with radiation competing against chemical methods to enhance the properties of wood. It has been reported that water repellancy, hardness, weathering, insect and chemical resistance, compressive, bending and shear strength can be significantly improved by the process, but so far there has been a limited commercial outlet for the product. Papers on this subject were presented at the International Atomic Energy Agency's Symposium on Industrial Uses of Large Radiation Sources, Salzburg, May 1963, and since then the Agency has been aware of the interest of developing countries in conducting research on wood and other fibrous materials as a means of further exploiting natural resources. It was felt that some attempt should be made to co-ordinate, on a regional basis, the work being done in this field and at the same time review the world status, including the associated technology in such areas as monomer-polymer chemistry and impregnation techniques where they are directly related to this work. Because of the wide range of fibrous materials being studied there, Asia and the Far East was chosen as the most representative area and 39 participants from 13 countries, and from international organizations, met in Bangkok from 20 to 24 November 1967 to assess the potential of impregnated fibrous materials. This report is a record of the meeting and is based not only on work performed both inside and outside the region but also on details of the resources and industries in the area.

  16. Coordinate Systems Integration for Craniofacial Database from Multimodal Devices

    Directory of Open Access Journals (Sweden)

    Deni Suwardhi

    2005-05-01

    Full Text Available This study presents a data registration method for craniofacial spatial data of different modalities. The data consists of three dimensional (3D vector and raster data models. The data is stored in object relational database. The data capture devices are Laser scanner, CT (Computed Tomography scan and CR (Close Range Photogrammetry. The objective of the registration is to transform the data from various coordinate systems into a single 3-D Cartesian coordinate system. The standard error of the registration obtained from multimodal imaging devices using 3D affine transformation is in the ranged of 1-2 mm. This study is a step forward for storing the craniofacial spatial data in one reference system in database.

  17. An unusual complication after craniofacial surgery for Apert syndrome

    Directory of Open Access Journals (Sweden)

    Abhay A Lune

    2014-01-01

    A case of Apert syndrome who had undergone craniofacial surgery elsewhere 4 years back presented to us with purulent discharge near the lateral orbital margin of right orbit, watering and redness of the right eye. He had telltale signs of this syndrome in the form of skull deformities such as brachycephaly, frontal bony prominence, mid-face hypoplasia, proptosis and syndactyly of both hands and feet. There was a surgical scar of previous craniofacial surgery over the bi-coronal region. He had a discharging granuloma over the lateral orbital margin and the adjacent lower eyelid had developed cicatricial ectropion. X-ray and computed tomography scan orbit confirmed the clinical suspicion of osteomyelitis of the underlying zygomatic bone at the site of miniplate and screw fixation of the earlier surgery. He was treated with excision of granuloma and extraction of loose screw and infected miniplate while ectropion was corrected by rotation advancement of temporal skin flap.

  18. Craniofacial and pharyngeal airway morphology in patients with acromegaly.

    Science.gov (United States)

    Balos Tuncer, Burcu; Canigur Bavbek, Nehir; Ozkan, Cigdem; Tuncer, Cumhur; Eroglu Altinova, Alev; Gungor, Kahraman; Akturk, Mujde; Balos Toruner, Fusun

    2015-08-01

    The aim of this study was to assess differences in craniofacial characteristics, upper spine and pharyngeal airway morphology in patients with acromegaly compared with healthy individuals. Twenty-one patients with acromegaly were compared with 22 controls by linear and angular measurements on cephalograms. The differences between the mean values of cephalometric parameters were analyzed with Mann-Whitney U-test. With respect to controls, anterior (pacromegaly. Craniofacial changes were predominantly found in the frontal bone (pacromegaly exhibited diminished dimensions at nasal (pacromegaly. Current results point to the importance of the reduced airway dimensions and that dentists and/or orthodontists should be aware of the cranial or dental abnormalities in patients with acromegaly.

  19. Fabrication of highly modulable fibrous 3D extracellular microenvironments

    KAUST Repository

    Zhang, Xixiang; Han, Fangfei; Syed, Ahad; Bukhari, Ebtihaj M.; Siang, Basil Chew Joo; Yang, Shan; Zhou, Bingpu; Wen, Wei-jia; Jiang, Dechen

    2017-01-01

    Three-dimensional (3D) in vitro scaffolds that mimic the irregular fibrous structures of in vivo extracellular matrix (ECM) are critical for many important biological applications. However, structural properties modulation of fibrous 3D scaffolds remains a challenge. Here, we report the first highly modulable 3D fibrous scaffolds self-assembled by high-aspect-ratio (HAR) microfibers. The scaffolds structural properties can be easily tailored to incorporate various physical cues, including geometry, stiffness, heterogeneity and nanotopography. Moreover, the fibrous scaffolds are readily and accurately patterned on desired locations of the substrate. Cell culture exhibits that our scaffolds can elicit strong bidirectional cell-material interactions. Furthermore, a functional disparity between the two-dimensional substrate and our 3D scaffolds is identified by cell spreading and proliferation data. These results prove the potential of the proposed scaffold as a biomimetic extracellular microenvironment for cell study.

  20. MRI of fibrous cortical defect and non-ossifying fibroma

    Energy Technology Data Exchange (ETDEWEB)

    Mishima, Yoshiko; Aoki, Takatoshi; Watanabe, Hideyuki; Nakata, Hajime; Hashimoto, Hiroshi; Nakamura, Toshitaka [Univ. of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan). School of Medicine

    1999-02-01

    Fibrous cortical defect and non-ossifying fibroma are the benign fibrous lesions of bone commonly involving children. Their diagnosis is usually done with radiography, and MR examinations are rarely performed. We evaluated MRI findings of 11 lesions in 10 cases of fibrous cortical defect and non-ossifying fibroma. Signal intensity of the lesions was varied and large lesions (2 cm<) tended to show heterogeneous signal intensity on both T1-weighted and T2-weighted images corresponding to a mixture of components including fibrous tissue, hemosiderin and foam cells. MRI helps to delineate the extent of the involved bone and to assess the various histological components of the lesions. However, their diagnosis is basically made on the radiographic findings and the role of MRI is limited. (author)

  1. Fabrication of highly modulable fibrous 3D extracellular microenvironments

    KAUST Repository

    Zhang, Xixiang

    2017-06-13

    Three-dimensional (3D) in vitro scaffolds that mimic the irregular fibrous structures of in vivo extracellular matrix (ECM) are critical for many important biological applications. However, structural properties modulation of fibrous 3D scaffolds remains a challenge. Here, we report the first highly modulable 3D fibrous scaffolds self-assembled by high-aspect-ratio (HAR) microfibers. The scaffolds structural properties can be easily tailored to incorporate various physical cues, including geometry, stiffness, heterogeneity and nanotopography. Moreover, the fibrous scaffolds are readily and accurately patterned on desired locations of the substrate. Cell culture exhibits that our scaffolds can elicit strong bidirectional cell-material interactions. Furthermore, a functional disparity between the two-dimensional substrate and our 3D scaffolds is identified by cell spreading and proliferation data. These results prove the potential of the proposed scaffold as a biomimetic extracellular microenvironment for cell study.

  2. Fibrous metaphyseal defect (fibrous cortical defect, non-ossifying fibroma). Pt. 2

    International Nuclear Information System (INIS)

    Freyschmidt, J.; Ostertag, H.; Saure, D.

    1981-01-01

    FMD, whether in the stage of a fibrous cortical defect or a non-ossifying fibroma, possesses very characteristic radiological appearances which rarely make it necessary to resort to biopsy. In order to avoid mistakes, it is necessary to observe strictly the known radiological features: metaphyseal position, clearcut relationship to the cortex, well defined margins, maximal size 6 to 7 cm., presence during growth, rarely observed in the upper extremity. The differential diagnosis, which needs to be considered only rarely, is discussed. (orig.) [de

  3. RSK2 is a modulator of craniofacial development.

    Directory of Open Access Journals (Sweden)

    Virginie Laugel-Haushalter

    Full Text Available BACKGROUND: The RSK2 gene is responsible for Coffin-Lowry syndrome, an X-linked dominant genetic disorder causing mental retardation, skeletal growth delays, with craniofacial and digital abnormalities typically associated with this syndrome. Craniofacial and dental anomalies encountered in this rare disease have been poorly characterized. METHODOLOGY/PRINCIPAL FINDINGS: We examined, using X-Ray microtomographic analysis, the variable craniofacial dysmorphism and dental anomalies present in Rsk2 knockout mice, a model of Coffin-Lowry syndrome, as well as in triple Rsk1,2,3 knockout mutants. We report Rsk mutation produces surpernumerary teeth midline/mesial to the first molar. This highly penetrant phenotype recapitulates more ancestral tooth structures lost with evolution. Most likely this leads to a reduction of the maxillary diastema. Abnormalities of molar shape were generally restricted to the mesial part of both upper and lower first molars (M1. Expression analysis of the four Rsk genes (Rsk1, 2, 3 and 4 was performed at various stages of odontogenesis in wild-type (WT mice. Rsk2 is expressed in the mesenchymal, neural crest-derived compartment, correlating with proliferative areas of the developing teeth. This is consistent with RSK2 functioning in cell cycle control and growth regulation, functions potentially responsible for severe dental phenotypes. To uncover molecular pathways involved in the etiology of these defects, we performed a comparative transcriptomic (DNA microarray analysis of mandibular wild-type versus Rsk2-/Y molars. We further demonstrated a misregulation of several critical genes, using a Rsk2 shRNA knock-down strategy in molar tooth germs cultured in vitro. CONCLUSIONS: This study reveals RSK2 regulates craniofacial development including tooth development and patterning via novel transcriptional targets.

  4. Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development

    Czech Academy of Sciences Publication Activity Database

    Celá, Petra; Hampl, Marek; Shylo, N.; Christopher, K. J.; Kavková, M.; Landová, Marie; Zikmund, T.; Weatherbee, S. D.; Kaiser, J.; Buchtová, Marcela

    2018-01-01

    Roč. 97, č. 1 (2018), s. 108-117 ISSN 0022-0345 R&D Projects: GA ČR(CZ) GB14-37368G; GA MŠk EF15_003/0000460 Institutional support: RVO:67985904 Keywords : craniofacial anomalies * growth/development * mineralized tissue/development * orofacial clefts * cell signaling Subject RIV: EA - Cell Biology Impact factor: 4.755, year: 2016

  5. The suture provides a niche for mesenchymal stem cells of craniofacial bones

    Science.gov (United States)

    Zhao, Hu; Feng, Jifan; Ho, Thach-Vu; Grimes, Weston; Urata, Mark; Chai, Yang

    2015-01-01

    Bone tissue undergoes constant turnover supported by stem cells. Recent studies showed that perivascular mesenchymal stem cells (MSCs) contribute to the turnover of long bones. Craniofacial bones are flat bones derived from a different embryonic origin than the long bones. The identity and regulating niche for craniofacial bone MSCs remain unknown. Here, we identify Gli1+ cells within the suture mesenchyme as the major MSC population for craniofacial bones. They are not associated with vasculature, give rise to all craniofacial bones in the adult and are activated during injury repair. Gli1+ cells are typical MSCs in vitro. Ablation of Gli1+ cells leads to craniosynostosis and arrest of skull growth, indicating these cells are an indispensible stem cell population. Twist1+/− mice with craniosynostosis show reduced Gli1+ MSCs in sutures, suggesting that craniosynostosis may result from diminished suture stem cells. Our study indicates that craniofacial sutures provide a unique niche for MSCs for craniofacial bone homeostasis and repair. PMID:25799059

  6. Fibrous epulis associated with impacted lower right third molar

    Directory of Open Access Journals (Sweden)

    Ni Putu Mira Sumarta

    2009-12-01

    Full Text Available Background: Epulis or epulides are lesions associated with gingival tissues. Fibrous epulis is a type of hyperplastic fibrous tissue mass located at the gingival which is slow growing, painless, having same color as the oral mucosa and firm on palpation. Anterior regions of the oral cavity are the frequently affected sites as these areas are more prone to be affected by calculus deposition and poor plaque control due to frequent teeth malposition. Removal of any irritating factors and excision of the lesion are the usual treatments. Purpose: This case report presents a rare case of fibrous epulis which occurred in the posterior region of the oral cavity and associated with impacted lower third molar. Case: A case of fibrous epulis at the lower right third molar area of three months duration is presented. The mass was slow growing, painless and on examination it was a pedunculated mass overlying the unerupted lower right third molar, having same color with the oral mucosa and firm on palpation. Clinically, the lesion was diagnosed as fibrous epulis associated with impacted lower right third molar. Case management: The treatment were surgical excision of the epulis and removal of the lower right third molar. The histopathology result showed tissue with squamous epithelial lining, achanthotic fibrous connective tissue, mononuclear inflammatory cells and few capillaries without signs of malignancy. This is consistent with the diagnosis of fibrous epulis. Conclusion: Fibrous epulis, although frequently occurred at the anterior region of the oral cavity, may rarely grow at the area of lower third molar. This phenomenon supports the theory that epulis can grow on any surface of oral mucous membrane as long as local irritants are present.

  7. Effects of compression on the sound absorption of fibrous

    DEFF Research Database (Denmark)

    Castagnede, Bernard; Akninen, Achour; Brouard, Achour

    2000-01-01

    During the compression of a fibrous mat, it is well known that the absorption properties are decreasing. In order to predict this change, some heuristic formulae are proposed which take into account the modifications of the physical parameters(porosity, resistivity, tortousity and shappe factors)......) which enter in the standard "equivalent fluid" model. Numerical predictions are then discussed and compared to experimental data obtained on a fibrous material(uncompressed and the compressed) used in automotive industry....

  8. Localized fibrous mesothelioma of the liver: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Hwan; Lee, Moon Gyu; Weon, Young Cheol; Lee, Seung Gyu; Kim, Yoon Jeong; Lee, In Chul; Auh, Yong Ho [Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of)

    1995-10-15

    Localized fibrous mesothelioma of the liver is very rare benign tumor. It usually manifest large palpable hepatic mass in right upper quadrant area, and the prognosis is excellent by surgical resection. Contrast enhanced CT scan shows well defined hyperattenuating mass and celiac angiogram shows hypervascular mass. Recently we experienced 1 case of localized fibrous mesothelioma of the liver, and we report CT and angiographic findings of this tumor.

  9. Solitary Fibrous Tumor of the Pancreas: Imaging Findings

    International Nuclear Information System (INIS)

    Kwon, Heon Ju; Byun, Jae Ho; Kang, Jun; Park, Seong Ho; Lee, Moon Gyu

    2008-01-01

    We report here a case of a pathologically proven solitary fibrous tumor of the pancreas. A 54-year-old man was referred to our hospital for further evaluation of a pancreatic mass that was found incidentally. CT, MR imaging, and endoscopic ultrasonography showed a well-defined, enhancing mass with cystic portions of the pancreas body. MR cholangiopancreatography showed no pancreatic duct dilatation. A solitary fibrous tumor of the pancreas is a very rare lesion

  10. Neonatal respiratory distress secondary to nasal fibrous histiocytoma.

    Science.gov (United States)

    Koopmann, C F; Nagle, R B; Crone, R

    1987-08-01

    A full term one-day-old neonate developed respiratory distress secondary to a right intranasal mass. After exploratory craniotomy revealed no intracranial lesions, the child was observed for 6 months. At that time he experienced severe apnea with cyanosis necessitating removal of the mass, which was diagnosed histologically as a fibrous histiocytoma. Seven year follow-up reveals no further problems. A discussion of fibrous histiocytoma of the nose and paranasal sinuses is briefly given.

  11. Redundant roles of PRDM family members in zebrafish craniofacial development.

    Science.gov (United States)

    Ding, Hai-Lei; Clouthier, David E; Artinger, Kristin B

    2013-01-01

    PRDM proteins are evolutionary conserved Zn-Finger transcription factors that share a characteristic protein domain organization. Previous studies have shown that prdm1a is required for the specification and differentiation of neural crest cells in the zebrafish. Here we examine other members of this family, specifically prdm3, 5, and 16, in the differentiation of the zebrafish craniofacial skeleton. prdm3 and prdm16 are strongly expressed in the pharyngeal arches, while prdm5 is expressed specifically in the area of the forming neurocranium. Knockdown of prdm3 and prdm16 results in a reduction in the neural crest markers dlx2a and barx1 and defects in both the viscerocranium and the neurocranium. The knockdown of prdm3 and prdm16 in combination is additive in the neurocranium, but not in the viscerocranium. Injection of sub-optimal doses of prdm1a with prdm3 or prdm16 Morpholinos together leads to more severe phenotypes in the viscerocranium and neurocranium. prdm5 mutants have defects in the neurocranium and prdm1a and prdm5 double mutants also show more severe phenotypes. Overall, our data reveal that prdm3, 5, and 16 are involved in the zebrafish craniofacial development and that prdm1a may interact with prdm3, 5, and 16 in the formation of the craniofacial skeleton in zebrafish. Copyright © 2012 Wiley Periodicals, Inc.

  12. Advances in imaging: impact on studying craniofacial bone structure.

    Science.gov (United States)

    Majumdar, S

    2003-01-01

    Methods for measuring the structure of craniofacial bones are discussed in this paper. In addition to the three-dimensional macro-structure of the craniofacial skeleton, there is considerable interest in imaging the bone at a microscopic resolution in order to depict the micro-architecture of the trabecular bone itself. In addition to the density of the bone, the microarchitecture reflects bone quality. An understanding of bone quality and density changes has implications for a number of craniofacial pathologies, as well as for implant design and understanding the biomechanical function and loading of the jaw. Trabecular bone micro-architecture has been recently imaged using imaging methods such as micro-computed tomography, magnetic resonance imaging, and the images have been used in finite element models to assess bone mechanical properties. In this paper, some of the recent advances in micro-computed tomography and magnetic resonance imaging are reviewed, and their potential for imaging the trabecular bone in mandibular bones is presented. Examples of in vitro and in vivo images are presented.

  13. Anteverted internal auditory canal as an inner ear anomaly in patients with craniofacial microsomia.

    Science.gov (United States)

    L'Heureux-Lebeau, Bénédicte; Saliba, Issam

    2014-09-01

    Craniofacial microsomia involves structure of the first and second branchial arches. A wide range of ear anomalies, affecting external, middle and inner ear, has been described in association with this condition. We report three cases of anteverted internal auditory canal in patients presenting craniofacial microsomia. This unique internal auditory canal orientation was found on high-resolution computed tomography of the temporal bones. This internal auditory canal anomaly is yet unreported in craniofacial anomalies. Copyright © 2014. Published by Elsevier Ireland Ltd.

  14. The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain

    Directory of Open Access Journals (Sweden)

    Groza Tudor

    2012-03-01

    Full Text Available Abstract Background Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associated with this field is both sparse and disparate, significant benefits will potentially accrue from the availability of an ontology that provides a shared conceptualisation of the domain knowledge and enables data integration, cross-referencing and advanced reasoning across the relevant but distributed data sources. Results We introduce the design considerations and implementation details of the Bone Dysplasia Ontology. We also describe the different components of the ontology, including a comprehensive and formal representation of the skeletal dysplasia domain as well as the related genotypes and phenotypes. We then briefly describe SKELETOME, a community-driven knowledge curation platform that is underpinned by the Bone Dysplasia Ontology. SKELETOME enables domain experts to use, refine and extend and apply the ontology without any prior ontology engineering experience--to advance the body of knowledge in the skeletal dysplasia field. Conclusions The Bone Dysplasia Ontology represents the most comprehensive structured knowledge source for the skeletal dysplasias domain. It provides the means for integrating and annotating clinical and research data, not only at the generic domain knowledge level, but also at the level of individual patient case studies. It enables links between individual cases and publicly available genotype and phenotype resources based on a community-driven curation process that ensures a shared conceptualisation of the domain knowledge and its continuous incremental evolution.

  15. 3D craniofacial registration using thin-plate spline transform and cylindrical surface projection.

    Science.gov (United States)

    Chen, Yucong; Zhao, Junli; Deng, Qingqiong; Duan, Fuqing

    2017-01-01

    Craniofacial registration is used to establish the point-to-point correspondence in a unified coordinate system among human craniofacial models. It is the foundation of craniofacial reconstruction and other craniofacial statistical analysis research. In this paper, a non-rigid 3D craniofacial registration method using thin-plate spline transform and cylindrical surface projection is proposed. First, the gradient descent optimization is utilized to improve a cylindrical surface fitting (CSF) for the reference craniofacial model. Second, the thin-plate spline transform (TPST) is applied to deform a target craniofacial model to the reference model. Finally, the cylindrical surface projection (CSP) is used to derive the point correspondence between the reference and deformed target models. To accelerate the procedure, the iterative closest point ICP algorithm is used to obtain a rough correspondence, which can provide a possible intersection area of the CSP. Finally, the inverse TPST is used to map the obtained corresponding points from the deformed target craniofacial model to the original model, and it can be realized directly by the correspondence between the original target model and the deformed target model. Three types of registration, namely, reflexive, involutive and transitive registration, are carried out to verify the effectiveness of the proposed craniofacial registration algorithm. Comparison with the methods in the literature shows that the proposed method is more accurate.

  16. 3D craniofacial registration using thin-plate spline transform and cylindrical surface projection.

    Directory of Open Access Journals (Sweden)

    Yucong Chen

    Full Text Available Craniofacial registration is used to establish the point-to-point correspondence in a unified coordinate system among human craniofacial models. It is the foundation of craniofacial reconstruction and other craniofacial statistical analysis research. In this paper, a non-rigid 3D craniofacial registration method using thin-plate spline transform and cylindrical surface projection is proposed. First, the gradient descent optimization is utilized to improve a cylindrical surface fitting (CSF for the reference craniofacial model. Second, the thin-plate spline transform (TPST is applied to deform a target craniofacial model to the reference model. Finally, the cylindrical surface projection (CSP is used to derive the point correspondence between the reference and deformed target models. To accelerate the procedure, the iterative closest point ICP algorithm is used to obtain a rough correspondence, which can provide a possible intersection area of the CSP. Finally, the inverse TPST is used to map the obtained corresponding points from the deformed target craniofacial model to the original model, and it can be realized directly by the correspondence between the original target model and the deformed target model. Three types of registration, namely, reflexive, involutive and transitive registration, are carried out to verify the effectiveness of the proposed craniofacial registration algorithm. Comparison with the methods in the literature shows that the proposed method is more accurate.

  17. Simplified Classification of Focal Cortical Dysplasia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-09-01

    Full Text Available Sections of cortex from 52 of 224 (23% patients with cortical dysplasia, operated on for drug-resistant partial epilepsy, were retrospectively re-examined histologically at Niguarda Hospital, and Istituto Nazionale Neurologico ‘C. Besta’, Milan, Italy.

  18. Ceramide profile in hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

    Jungersted, J. M.; Høgh, Julie Kaae; Hellgren, Lars

    2012-01-01

    Background. Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease. The clinical presentation includes lack of sweating ability, and an often widely spread dermatitis resembling atopic dermatitis (AD). In AD, the skin‐barrier defect is partly ascribed to the altered lipid profile...

  19. Screening for Developmental Dysplasia of the Hip

    NARCIS (Netherlands)

    Boere-Boonekamp, Magdalena M.; Verkerk, Paul H.

    1998-01-01

    The success rates of screening programmes for Developmental Dysplasia of the Hip (DDH) vary widely. Studies on screening programmes for DDH based on a Medline search for the years 1966–1997 are reviewed. The percentage treated in most studies, especially those using ultrasound, are high and suggest

  20. Total hip reconstruction in acetabular dysplasia.

    NARCIS (Netherlands)

    Schller, H.M.; Dalstra, M.; Huiskes, R.; Marti, R.K.

    1993-01-01

    In acetabular dysplasia, fixation of the acetabular component of a cemented total hip prosthesis may be insecure and superolateral bone grafts are often used to augment the acetabular roof. We used finite element analysis to study the mechanical importance of the lateral acetabular roof and found

  1. The patellofemoral joint: from dysplasia to dislocation

    Science.gov (United States)

    Zaffagnini, Stefano; Grassi, Alberto; Zocco, Gianluca; Rosa, Michele Attilo; Signorelli, Cecilia; Muccioli, Giulio Maria Marcheggiani

    2017-01-01

    Patellofemoral dysplasia is a major predisposing factor for instability of the patellofemoral joint. However, there is no consensus as to whether patellofemoral dysplasia is genetic in origin, caused by imbalanced forces producing maltracking and remodelling of the trochlea during infancy and growth, or due to other unknown and unexplored factors. The biomechanical effects of patellofemoral dysplasia on patellar stability and on surgical procedures have not been fully investigated. Also, different anatomical and demographic risk factors have been suggested, in an attempt to identify the recurrent dislocators. Therefore, a comprehensive evaluation of all the radiographic, MRI and CT parameters can help the clinician to assess patients with primary and recurrent patellar dislocation and guide management. Patellofemoral dysplasia still represents an extremely challenging condition to manage. Its controversial aetiology and its complex biomechanical behaviour continue to pose more questions than answers to the research community, which reflects the lack of universally accepted guidelines for the correct treatment. However, due to the complexity of this condition, an extremely personalised approach should be reserved for each patient, in considering and addressing the anatomical abnormalities responsible for the symptoms. Cite this article: EFORT Open Rev 2017;2. DOI: 10.1302/2058-5241.2.160081. Originally published online at www.efortopenreviews.org PMID:28630757

  2. Cochlear implantation in a bilateral Mondini dysplasia.

    Science.gov (United States)

    Turrini, M; Orzan, E; Gabana, M; Genovese, E; Arslan, E; Fisch, U

    1997-01-01

    We report the speech perception progress and programming procedures of a case of congenital profound deafness and bilateral Mondini dysplasia implanted with a Nucleus 20 + 2 cochlear implant at the age of six. Unclear relations between electrodes array and cochlear partition made implant programming difficult and non-standard procedures were set. Cochlear implantation may give excellent rehabilitative results also in cochleae with malformation.

  3. Human papilloma virus infection and cervical dysplasia.

    Science.gov (United States)

    Melinte-Popescu, Alina; Costăchescu, Gh

    2012-01-01

    Pap testing is considered to be the best screening tool for cervical cancer but there is currently great interest in the possible application of human papilloma virus (HPV) testing to supplement Pap screening for cervical cancer. To determine the prevalence of high-risk HPV types in the studied population and to explore the association between high-risk HPV types and cervical dysplasia. Cross-sectional study conducted at the Iasi Cuza Voda Obstetrics-Gynecology Hospital and Suceava County Hospital. 332 women who underwent colposcopy for cervical lesions between 2006 and 2011 were included in this study. The overall prevalence of HPV was 57.23%. HPV prevalence differs significantly in the three age groups up to 50 years. It was highest in patients below the age of 40 and progressively lower with advancing age. The overall prevalence of cervical dysplasia was 56.62%. The prevalence of cervical dysplasia was highest in the age groups up to 40 years. The most important determinant of HPV infection is age. Persistence of HPV appears to be associated with progression to squamous intraepithelial lesion. Dysplasia is often missed in a cervical sample either because of human error in screening and interpretation, or because of suboptimal quality of Pap smear. Incorporation of HPV testing into the present Pap screening program has the potential of making screening for cervical cancer more effective, and a necessary prelude to assessing this is by determining the prevalence of the high-risk types.

  4. Ureaplasma urealyticum colonization, prematurity and bronchopulmonary dysplasia

    NARCIS (Netherlands)

    vanWaarde, WM; Brus, F; Okken, A; Kimpen, JLL

    The aim of the present study was to determine the association between the presence of Ureaplasma urealyticum in endotracheal aspirates and bronchopulmonary dysplasia (BPD). In addition, a review of similar studies from the English literature is presented. During the period February 1990 until March

  5. Ultrasonographic features of fibrous hamartoma of infancy

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seungsoo; Kim, Myung-Joon; Lee, Mi-Jung [Yonsei University College of Medicine, Department of Radiology and Research Institute of Radiological Science, Severance Children' s Hospital, Seoul (Korea, Republic of); Choi, Young-Hun; Cheon, Jung-Eun [Seoul National University Children' s Hospital, Department of Radiology, Seoul (Korea, Republic of); Koh, Myoung Ju [Yonsei University College of Medicine, Department of Pathology, Seoul (Korea, Republic of)

    2014-05-15

    To review imaging features of fibrous hamartoma of infancy (FHI), focusing on ultrasonography (US) findings. We retrospectively reviewed pediatric patients who were diagnosed with pathologically confirmed FHI in two children's hospitals from 2004 to 2013. Imaging features of US, Doppler US, and magnetic resonance imaging (MRI) were evaluated. Thirteen pediatric patients (M:F = 7:6; age 5-22 months, mean 11.3 months) were included. Mean lesion size was 3.2 cm (range, 0.7-8.0 cm). The tumors were located in the back (n = 4), scrotum (n = 2), scalp, shoulder, axilla, forearm, intergluteal cleft, inguinal area, and thigh. US was performed in 11 patients. With the exception of two scrotal masses, all masses were located in the dermal and subcutaneous layer. All masses demonstrated heterogeneous hyperechogenicity with a ''serpentine pattern'' of intervening hypoechoic portions in the hyperechoic mass. The margins were ill-defined (n = 9) or lobulated (n = 2). Doppler US was performed in nine patients and showed no (n = 6) or minimal (n = 3) vascularity. MRI was performed in five patients and the masses showed heterogeneous signal intensity with the presence of fat on T1- and T2-weighted images. FHI is a tumor that is typically located in the dermal and subcutaneous layer in young children less than 2 years old and presents as a heterogeneously hyperechoic mass with a ''serpentine pattern'' and ill-defined or lobulated margin on US and no remarkable vascularity on Doppler US. (orig.)

  6. Imaging features of intracranial solitary fibrous tumors

    International Nuclear Information System (INIS)

    Yu Shuilian; Man Yuping; Ma Longbai; Liu Ying; Wei Qiang; Zhu Youkai

    2012-01-01

    Objective: To summarize the imaging features of intracranial solitary fibrous tumors (ISFT). Methods: Ten patients with ISFT proven histopathologically were collected. Four cases had CT data and all cases had MR data. The imaging features and pathological results were retrospectively analyzed. Results: All cases were misdiagnosed as meningioma at pre-operation. All lesions arose from intracranial meninges including 5 lesions above the tentorium, 4 lesions beneath the tentorium and 1 lesion growing around the tentorium. The margins of all the masses were well defined, and 8 lesions presented multilobular shape. CT demonstrated hyerattenuated masses in all 4 lesions, smooth erosion of the basicranial skull in 1 lesion, and punctiform calcification of the capsule in 1 lesion. T 1 WI showed most lesions with isointense or slight hyperintense signals including homogeneous in 4 lesions and heterogeneous in 6 lesions. T 2 WI demonstrated isointense or slight hyperintense in 2 lesions, mixed hypointense and hyperintense signals in 4, cystic portion in 2, and two distinct portion of hyperintense and hypointense signal, so called 'yin-yang' pattern, in 2. Strong enhanced was found in all lesions, especially in 8 lesion with heterogeneous with the low T 2 signal. 'Dural tail' was found in 4 lesions. Conclusions: ISFI has some specific CT and MR features including heterogeneous signal intensity on T 2 WI, strong enhancement of areas with low T 2 signal intensity, slight or no 'dural tail', without skull thickening, and the typical 'yin-yang' pattern. (authors)

  7. Craniofacial and Dental Aspects of Crouzon and Apert Syndrome

    NARCIS (Netherlands)

    J.H. Reitsma (Jacobus Harmen)

    2014-01-01

    markdownabstract__Abstract__ The cranium of an infant or young child consists of different bony plates intersected by sutures. A calvarial suture is a type of fibrous joint in the cranium. The growth of the cranium is effectuated mainly in the sutures. Two important functions of the calvarial

  8. A call to expand regulation to all carcinogenic fibrous minerals

    Science.gov (United States)

    Baumann, F.; Steele, I.; Ambrosi, J.; Carbone, M.

    2013-05-01

    The regulatory term "asbestos" groups only the six fibrous minerals that were commercially used among approximately 400. The carcinogenicity of these six regulated minerals has been largely demonstrated and is related to fiber structure, fiber length/diameter ratio, and bio-persistence. From a public perception, the generic term "asbestos" refers to the fibrous minerals that cause asbestosis, mesothelioma and other cancers. However, other non-regulated fibrous minerals are potentially as dangerous as the regulatory asbestos because they share similar physical and chemical properties, epidemiological studies have demonstrated their relationship with asbestos-related diseases, and both in vitro and in vivo experiments have established the toxicity of these minerals. For example, the non-regulated asbestiform winchite and richterite minerals that contaminated the vermiculite mined from Libby, Montana, (USA) were associated with mesothelioma, lung cancer and asbestosis observed among the area's residents and miners. Many other examples of non-regulated carcinogenic fibrous minerals include, but are not limited to, antigorite, arfvedsonite, balangeroite, carlosturanite, erionite, fluoro-edenite, hornblende, mordenite, palygorskite, and sepiolite. To propose a regulatory definition that would provide protection from all carcinogenic fibers, we have conducted an interdisciplinary literature review to compare the characteristics of "asbestos" and of non-regulated mineral fibers that relate to carcinogenicity. We specifically studied two non-regulated fibrous minerals that are associated with asbestos-related diseases: the serpentine antigorite and the zeolite erionite. Both examples underscore the problem of regulation based on commercial, rather than scientific principles: 1) the occurrence of fibrous antigorite in materials used to pave roads has been correlated with high mesothelioma rates in New Caledonia. Antigorite was also the cause of asbestosis in Poland, and in

  9. Cardiac rhythm disturbance in athletes with cardiac connective tissue dysplasia syndrome

    Directory of Open Access Journals (Sweden)

    Shahrjerdi Sh

    2007-06-01

    Full Text Available Background: Cardiac connective tissue dysplasia syndrome consists of mitral valve prolapse (MVP, anomalously located chordae tendinae of the left ventricle, or a combination of the two. MVP is marked by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. The nonclassic form of MVP carries a low risk of complications. Patients with severe classic MVP can suffer from mitral regurgitation (MR, infective endocarditis, and, infrequently, sudden death from cardiac arrest. Anomalously located left ventricular chordae tendinae are fibrous or fibromuscular bands that stretch across the left ventricle from the septum to the free wall. They have been associated with murmurs and arrhythmias. The purpose of this study is to assess the performance, as measured by the physical working capacity (PWC170 and maximal oxygen consumption (VO2 max, in athletes with cardiac connective tissue dysplasia syndrome. Methods: Of the 183 male athletes studied, 158 had cardiac connective tissue dysplasia syndrome and 25 were normal, healthy controls. Their mean age was 16.23 (± 5.48 years and mean training time was 5.2 (±- 4.6 years. Athletes with cardiac connective tissue dysplasia syndrome were divided to four groups. Group 1 consisted of those with MVP; Group 2 had patients with an additional cord in left ventricle; Group 3 was made up of athletes with a combination of MVP and additional cord; Group 4 contained athletes with a combination of MVP and MR. All sportsmen were studied by echocardiograph, veloergometer, and those with arrhythmias were studied and recorded using a Holter monitor. Results: The most common form of this syndrome in our study groups was MVP. The PWC170and VO2 max among the athletes with the combination of MVP+MR (Group 4 was lower than that of athletes in other groups (P<0.05. The most common arrhythmia among the athletes with anomalously located left ventricular chordae, Group 2, was Wolf

  10. Magnesium Alloys as a Biomaterial for Degradable Craniofacial Screws

    Science.gov (United States)

    Henderson, Sarah E.; Verdelis, Konstantinos; Maiti, Spandan; Pal, Siladitya; Chung, William L.; Chou, Da-Tren; Kumta, Prashant N.; Almarza, Alejandro J.

    2014-01-01

    Recently, magnesium (Mg) alloys have received significant attention as a potential biomaterial for degradable implants, and this study was directed at evaluating the suitability of Mg for craniofacial bone screws. The objective was to implant screws fabricated from commercially available Mg-alloys (pure Mg and AZ31) in-vivo in a rabbit mandible. First, Mg-alloy screws were compared to stainless steel screws in an in-vitro pull-out test and determined to have a similar holding strength (~40N). A finite element model of the screw was created using the pull-out test data, and the model can be used for future Mg-alloy screw design. Then, Mg-alloy screws were implanted for 4, 8, and 12 weeks, with two controls of an osteotomy site (hole) with no implant and a stainless steel screw implanted for 12 weeks. MicroCT (computed tomography) was used to assess bone remodeling and Mg-alloy degradation, both visually and qualitatively through volume fraction measurements for all time points. Histologic analysis was also completed for the Mg-alloys at 12 weeks. The results showed that craniofacial bone remodeling occurred around both Mg-alloy screw types. Pure Mg had a different degradation profile than AZ31, however bone growth occurred around both screw types. The degradation rate of both Mg-alloy screw types in the bone marrow space and the muscle were faster than in the cortical bone space at 12 weeks. Furthermore, it was shown that by alloying Mg, the degradation profile could be changed. These results indicate the promise of using Mg-alloys for craniofacial applications. PMID:24384125

  11. 75 FR 82033 - National Institute of Dental and Craniofacial Research; Notice of Meeting

    Science.gov (United States)

    2010-12-29

    ... and Craniofacial Research; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory... 31C, 31 Center Drive, 6th Floor, Conference Room 10, Bethesda, MD 20892. Contact Person: Alicia J. Dombroski, PhD, Director, Division of Extramural Activities, Natl. Inst. of Dental and Craniofacial Research...

  12. 76 FR 51995 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Science.gov (United States)

    2011-08-19

    ... & Craniofacial Research; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... 31 C, 31 Center Drive, 6th Floor, Conference Room 10, Bethesda, MD 20892. Contact Person: Alicia J. Dombroski, PhD, Director, Division of Extramural Activities, National Institute of Dental and Craniofacial...

  13. A stereotactic system for guiding complex craniofacial reconstruction.

    Science.gov (United States)

    Fialkov, J A; Phillips, J H; Gruss, J S; Kassel, E E; Zuker, R M

    1992-02-01

    A stereotactic system has been designed to address the problem of achieving symmetry in complex and extensive craniofacial defects. Preliminary testing suggests that such a system, which allows for the intraoperative application of preoperative CT planning, will be useful in guiding the reconstruction of congenital or acquired bony time, is being used to investigate the correlation of intraoperative globe position following enophthalmos correction with long-term outcome, particularly as it relates to the size and location of the orbital defect, and the timing of the procedure.

  14. Malign Fibrous Histiocytoma of the Bladder: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Ižbrahim Bozkurt

    2014-06-01

    Full Text Available Malignant fibrous histocytoma is a mesenchimal tumor, which was described in 1964. It is the most common soft tissue sarcoma in patients over the age of 40 years. There were very few reports about malignant fibrous histocytoma in urinary tract especially in bladder with 30 patients. Patients usually present with gross hematuria. Because of its agressive characteristics; recurrences, progressions and metastasis are likely. Tumor grade, tumor size, amount of invasion and histological type are the risk factors for metastasis. Early radical cystectomy is the first treatment option because of poor prognosis of these tumors but usually can not be sufficient. Chemotherapy and radiotherapy are used to as an alternative treatment or adjuvant treatment with surgery. We would like to present a bladder malignant fibrous histocytoma case to contribute to the lirature.

  15. Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases.

    Science.gov (United States)

    Vasconcelos Carvalho, Marianne; Romero Souto de Sousa, José; Paiva Correa de Melo, Filipe; Fonseca Faro, Tatiane; Nunes Santos, Ana Clara; Carvalho, Silvia; Veras Sobral, Ana Paula

    2013-07-14

    Ectodermal dysplasias are a large group of syndromes characterized by anomalies in the structures of ectodermal origin. There are 2 major types of this disorder, based on clinical findings: hypohidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. This clinical classification is very important because clinical professionals involved with this disease need first a clear and practical method of diagnosis. The main oral manifestation of ectodermal dysplasia may be expressed as hypodontia. Thus, dental professionals may be the first to diagnose ectodermal dysplasia. The present article reports one case of each of the main types (hypohidrotic and hidrotic) of ectodermal dysplasia and the authors review the literature regarding the pathogenesis, clinical features, and therapeutic management of this condition.

  16. Joint space width in dysplasia of the hip

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Sonne-Holm, Stig; Søballe, K

    2005-01-01

    In a longitudinal case-control study, we followed 81 subjects with dysplasia of the hip and 136 control subjects without dysplasia for ten years assessing radiological evidence of degeneration of the hip at admission and follow-up. There were no cases of subluxation in the group with dysplasia....... Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...... and controls in regard to age, body mass index or occupational exposure to daily repeated lifting at admission.We found no significant differences in the reduction of the joint space width at follow-up between subjects with dysplasia and the control subjects nor in self-reported pain in the hip...

  17. Prosthodontic management of anhidrotic ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Shilpy Gupta

    2011-01-01

    Full Text Available Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent protrusion and eversion of the lips. Patients with anhidrotic forms suffer from heat intolerance due to lack of sweat glands and mild infections may lead to death in infancy from hyperthermia. A case of a 4-year-old child with anhidrotic ectodermal dysplasia with partial anodontia is presented. Dental, oral, and physical features were taken into consideration in diagnosis and treatment planning for this patient. Clinical management consisted of removable partial prosthesis in maxillary arch and complete denture prosthesis in mandibular arch. The main aim of the treatment was to improve psychological development and to promote better functioning of the stomatognathic system.

  18. Mutations in FLNB cause boomerang dysplasia.

    Science.gov (United States)

    Bicknell, L S; Morgan, T; Bonafé, L; Wessels, M W; Bialer, M G; Willems, P J; Cohn, D H; Krakow, D; Robertson, S P

    2005-07-01

    Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain of filamin B and occur at sites that are evolutionarily well conserved. These findings expand the phenotypic spectrum resulting from mutations in FLNB and underline the central role this protein plays during skeletogenesis in humans.

  19. Arrhythmogenic right ventricular dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    Tessa Negrín Valdés

    2015-10-01

    Full Text Available Arrhythmogenic right ventricular dysplasia is a heart muscle disease that predominantly affects the right ventricle, bringing about the replacement of normal myocardium with fatty or fibrofatty tissue and causing sudden death in young individuals. Ventricular tachycardia is an important clinical manifestation, although there are reports of right or global heart failure. The diagnosis is confirmed by echocardiography and magnetic resonance imaging. The case of a 65-year-old former smoker, with hypertension and ischemic heart disease, a history of effort syncope symptoms and proven non-sustained ventricular tachycardia, with morphology of left bundle branch block, is reported. Relevant diagnostic studies were performed, and echocardiographic elements which were compatible with arrhythmogenic right ventricular dysplasia were found. Therefore, an implantable cardioverter defibrillator was implanted, after which the patient has had a favorable outcome.

  20. MRA of fibromuscular dysplasia in cervical vessels

    International Nuclear Information System (INIS)

    Link, J.; Steffens, J.C.; Mueller-Huelsbeck, S.; Brossmann, J.; Heller, M.

    1996-01-01

    In 386 selective angiograms of cervical vessels fibromuscular dysplasia was revealed in 4 female patients in the age of 30-54 years. FMD was located in the carotid artery (n=5) and in the vertebral artery (n=2) with a total of 8 lesions. 6/8 of the lesions of the seven cervical vessels were located typically in the mid cervical portion of the vessels and 2/6 lesions were located in the atlas loop of the vertebral artery. 4 lesions showed moderate stenosis and 4 vessels showed only mild stenosis. These patterns which demonstrated the typical morphology of fibromuscular dysplasia with alternating irregular zones of widening and narrowing were evaluated well with MR angiography, the others were missed. (orig./MG) [de

  1. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

    KAUST Repository

    Shamseldin, Hanan E.; Khalifa, Ola; Binamer, Yousef M.; Almutawa, Abdulmonem; Arold, Stefan T.; Zaidan, Hamad; Alkuraya, Fowzan S.

    2016-01-01

    Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia

  2. Fetal MR imaging of Kniest dysplasia

    International Nuclear Information System (INIS)

    Yazici, Zeynep; Kline-Fath, Beth M.; Laor, Tal; Tinkle, Bradley T.

    2010-01-01

    We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias. (orig.)

  3. MR imaging features of craniodiaphyseal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Marden, Franklin A. [Mallinckrodt Institute of Radiology, Washington University Medical Center, 510 South Kingshighway Blvd., MO 63110, St. Louis (United States); Department of Radiology, St. Louis Children' s Hospital, Children' s Place, MO 63110, St. Louis (United States); Wippold, Franz J. [Mallinckrodt Institute of Radiology, Washington University Medical Center, 510 South Kingshighway Blvd., MO 63110, St. Louis (United States); Department of Radiology, St. Louis Children' s Hospital, Children' s Place, MO 63110, St. Louis (United States); Department of Radiology/Nuclear Medicine, F. Edward Hebert School of Medicine, Uniformed Services University of the Health Sciences, MD 20814, Bethesda (United States)

    2004-02-01

    We report the magnetic resonance (MR) imaging findings in a 4-year-old girl with characteristic radiographic and computed tomography (CT) features of craniodiaphyseal dysplasia. MR imaging exquisitely depicted cranial nerve compression, small foramen magnum, hydrocephalus, and other intracranial complications of this syndrome. A syrinx of the cervical spinal cord was demonstrated. We suggest that MR imaging become a routine component of the evaluation of these patients. (orig.)

  4. Bilateral anophthalmia with septo-optic dysplasia

    OpenAIRE

    Jana, Manisha; Sharma, Sanjay

    2010-01-01

    Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even rare condition. The condition is characterized by absent eyeballs in the presence of eyelids, conjunctiva or lacrimal apparatus. Though anophthalmia can be diagnosed clinically, imaging plays a crucial role in delineating the associated anomalies. In addition, often clinical anophthalmia may prove to be severe microphthalmia on imaging. We describe the imaging findings in an infant with bilateral ano...

  5. Distinctive skeletal dysplasia in Cockayne syndrome

    International Nuclear Information System (INIS)

    Silengo, M.C.; Franceschini, P.; Bianco, R.; Biagioli, M.; Pastorin, L.; Vista, N.; Baldassar, A.; Benso, L.

    1986-01-01

    Cockayne syndrom is a well-known autosomal recessive form of dwarfism with senile-like appearance. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvment of the spine. (orig.)

  6. Distinctive skeletal dysplasia in Cockayne syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Silengo, M.C.; Franceschini, P.; Bianco, R.; Biagioli, M.; Pastorin, L.; Vista, N.; Baldassar, A.; Benso, L.

    1986-03-01

    Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearance. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvement of the spine.

  7. Fetal MR imaging of Kniest dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Uludag University, Faculty of Medicine, Department of Radiology, Gorukle (Turkey); Kline-Fath, Beth M.; Laor, Tal [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Tinkle, Bradley T. [Cincinnati Children' s Hospital Medical Center, Division of Human Genetics, Cincinnati, OH (United States)

    2010-03-15

    We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias. (orig.)

  8. Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Macpherson, R.I.; Wood, B.P.

    1980-07-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.

  9. Craniofacial and Dental Aspects of Crouzon and Apert Syndrome

    OpenAIRE

    Reitsma, Jacobus Harmen

    2014-01-01

    markdownabstract__Abstract__ The cranium of an infant or young child consists of different bony plates intersected by sutures. A calvarial suture is a type of fibrous joint in the cranium. The growth of the cranium is effectuated mainly in the sutures. Two important functions of the calvarial sutures are to secure flexibility of the cranium during passage of a baby through the birth canal, and to facilitate growth and separation of the calvarial bones during intrauterine and perinatal life (P...

  10. Brisement force in fibrous ankylosis: A technique revisited

    Directory of Open Access Journals (Sweden)

    Udupikrishna M Joshi

    2016-01-01

    Full Text Available Fibrous ankylosis is a common complication of trauma to the temporomandibular joint (TMJ in children. Proper treatment and regular follow-up is necessary for its successful management. This report highlights a case of posttraumatic fibrous ankylosis successfully managed with brisement force-gradual tractional forces applied to the TMJ under local anesthesia without any associated complications. Mouth opening increased significantly from 15 to 35 mm. The patient was advised to perform rigorous physiotherapy at home, to maintain interincisal opening of 35 mm. The case was followed up for 6 months with no decrease in mouth opening.

  11. Case report 359: Gigantic benign fibrous histiocytoma (nonossifying fibroma)

    International Nuclear Information System (INIS)

    Remagen, W.; Nidecker, A.; Prein, J.

    1986-01-01

    In summary, a fascinating case is presented of an enormous 'blow-out' lesion in the left half of the mandible in a 17-year-old boy. The histological diagnosis was benign fibrous histiocytoma or non-ossifying fibroma. An extensive differential diagnosis was presented by the authors and although benign fibrous histiocytoma was their final diagnosis, they could not exclude an example of the rarely encountered entity called the Jaffe-Campanacci syndrome. This syndrome consists of multiple non-ossifying fibromas of the mandible, cafe-au-lait spots, various endocrine disorders, mental retardation, occular anomalies and cardiovascular malformations. (orig./SHA)

  12. Interfacial Micromechanics in Fibrous Composites: Design, Evaluation, and Models

    Science.gov (United States)

    Lei, Zhenkun; Li, Xuan; Qin, Fuyong; Qiu, Wei

    2014-01-01

    Recent advances of interfacial micromechanics in fiber reinforced composites using micro-Raman spectroscopy are given. The faced mechanical problems for interface design in fibrous composites are elaborated from three optimization ways: material, interface, and computation. Some reasons are depicted that the interfacial evaluation methods are difficult to guarantee the integrity, repeatability, and consistency. Micro-Raman study on the fiber interface failure behavior and the main interface mechanical problems in fibrous composites are summarized, including interfacial stress transfer, strength criterion of interface debonding and failure, fiber bridging, frictional slip, slip transition, and friction reloading. The theoretical models of above interface mechanical problems are given. PMID:24977189

  13. Solitary Fibrous Tumor of Retromolar Pad; a Rare Challenging Case

    Science.gov (United States)

    Lotfi, Ali; Mokhtari, Sepideh; Moshref, Mohammad; Shahla, Maryam; Atarbashi Moghadam, Saede

    2017-01-01

    Solitary fibrous tumor has a wide spectrum of histopathologic features and many tumors show similar microscopic features. This similarity poses diagnostic challenges to the pathologists and immunohistochemical analysis is required in many cases. Moreover, it is a rare entity in orofacial region which consequently would make its diagnosis more challenging in oral cavity. The knowledge of various microscopic patterns of this tumor contributes to a proper diagnosis and prevents unnecessary treatment. This study reports a case of solitary fibrous tumor in the retromolar pad area and discusses its various histological features and differential diagnoses. PMID:28620640

  14. A Solitary Fibrous Tumor of the Pleura Revealed by Hiccups

    Directory of Open Access Journals (Sweden)

    A. Chafik

    2011-01-01

    Full Text Available Solitary fibrous tumors of the pleura are rare and benign primary localized tumors; they possess a malignant potential and thus should be excised. We report a case of a 43-year-old woman, who had suffered for 5 years from right basithoracic pain associated with progressive dyspnea and persistent hiccups during the last 6 months. We have not found any similar case in the literature. Further testing after excision by thoracotomy revealed a solitary fibrous pleural tumor. A brief discussion of the clinical presentation and incidence of these tumors is included.

  15. Bizarre cell dysplasia of the cervix.

    Science.gov (United States)

    Ondič, Ondrej; Ferko, Radoslav; Kašpírková, Jana; Švajdler, Marián; Rýchly, Boris; Talarčík, Peter; Bouda, Jiří; Michal, Michal

    2017-02-01

    The aim of this study was the characterization of a new subtype of high-grade cervical squamous intraepithelial lesion (HSIL) with enlarged cells containing bizarre nuclei: so-called bizarre cell dysplasia (BCD). A total of 29 cervical cone biopsy samples of this type of dysplasia were studied. Multi-target polymerase chain reaction and in situ hybridization human papillomavirus (HPV) detection was performed in all cases. BCD was defined as a subtype of HSIL characterized by the presence of large dysplastic cells with abnormal, large pleomorphic nuclei or multinucleation causing nucleomegaly. This results in bizarre nuclear shapes. Bizarre cells are scattered throughout the whole thickness of the dysplastic squamous epithelium. The BCD lesions arise within the conventional/classic high grade or "bland" type squamous dysplasia HSIL. Statistically they were significantly associated with HVP type 16. A significant association with other studied viruses (Herpes simplex virus [HSV]1, HSV2, Varicella zoster virus, Epstein-Barr virus, cytomegalovirus, human herpesvirus 6, and human polyomaviruses BK and JC) was not confirmed. BCD involves cytologically characteristic morphologic changes that are recognizable, but which may pose some risk of misdiagnosis as low-grade squamous intraepithelial lesion due to the enlargement of dysplastic cells and multinucleation. Based on the unique histological, cytological and biological features of BCD including strong association with HPV 16 infection, we believe that this is a specific, and so far unrecognized variant of HSIL. © 2017 Japan Society of Obstetrics and Gynecology.

  16. Edentulation alters material properties of cortical bone in the human craniofacial skeleton: functional implications for craniofacial structure in primate evolution

    Science.gov (United States)

    Dechow, Paul C.; Wang, Qian; Peterson, Jill

    2011-01-01

    Skeletal adaptations to reduced function are an important source of skeletal variation and may be indicative of environmental pressures that lead to evolutionary changes. Humans serve as a model animal to investigate the effects of loss of craniofacial function through edentulation. In the human maxilla, it is known that edentulation leads to significant changes in skeletal structure such as residual ridge resorption and loss of cortical thickness. However, little is known about changes in bone tissue structure and material properties, which are also important for understanding skeletal mechanics but are often ignored. The aims of this study were to determine cortical material properties in edentulous crania and to evaluate differences with dentate crania and thus examine the effects of loss of function on craniofacial structure. Cortical bone samples from fifteen edentulous human skulls were measured for thickness and density. Elastic properties and directions of maximum stiffness were determined by using ultrasonic techniques. These data were compared to those from dentate crania reported in a previous investigation. Cortical bone from all regions of the facial skeleton of edentulous individuals is thinner than in dentate skulls. Elastic and shear moduli, and density are similar or greater in the zygoma and cranial vault of edentulous individuals, while these properties are less in the maxilla. Most cortical bone, especially in edentulous maxillae, has reduced directional orientation. The loss of significant occlusal loads following edentulation may contribute to the change in material properties and the loss of orientation over time during the normal process of bone remodeling. These results suggest that area-specific cortical microstructural changes accompany bone resorption following edentulation. They also suggest that functional forces are important for maintaining bone mass throughout the craniofacial skeleton, even in areas such as the browridges, which

  17. Case presentation of florid cemento-osseous dysplasia with concomitant cemento-ossifying fibroma discovered during implant explantation.

    Science.gov (United States)

    Gerlach, Robert C; Dixon, Douglas R; Goksel, Tamer; Castle, James T; Henry, Walter A

    2013-03-01

    A 39-year-old African American woman presented for treatment of a symptomatic mandibular right first molar with a large, periapical radiolucency. After initial attempts at endodontic therapy, this tooth was ultimately extracted owing to unabated symptoms. The extraction site underwent ridge preservation grafting, implant placement, and restoration. After 26 months of implant function, the patient returned with clinical symptoms of pain, buccal swelling, and the sensation of a "loose" implant. This case report details a diagnosis of 2 distinct disease entities associated with the implant site, a cemento-ossifying fibroma and florid cemento-osseous dysplasia of the mandible. This diagnosis was determined from clinical, surgical, radiographic, and histopathologic evidence after biopsy and removal of the previously osseointegrated implant following postinsertion failure by fibrous encapsulation. Before implant therapy, it is essential to conduct a thorough radiographic evaluation of any dental arch with suspected bony lesions to prevent implant failure. Published by Mosby, Inc.

  18. Treatment of oral dysplasia with 5% imiquimod cream: short communication.

    Science.gov (United States)

    Mullins, R; Ansell, M; Laverick, S

    2016-11-01

    We report what we think is the first treatment of oral dysplasia with 5% imiquimod cream. A 60-year-old man presented with varying degrees of dysplasia on the soft palate. A cover plate was fabricated and the patient was prescribed 5% imiquimod cream, a topical imunomodulator, for six weeks. The lesion improved and histological examination of an incisional biopsy found no features of dysplasia. This case highlights the efficacy of imiquimod cream in the treatment of dysplasia, and the need for development of a preparation suitable for the oral mucosa. Copyright © 2016. Published by Elsevier Ltd.

  19. The role of the acetabular labrum in hip dysplasia

    DEFF Research Database (Denmark)

    Hartig-Andreasen, Charlotte; Søballe, Kjeld; Troelsen, Anders

    2013-01-01

    A periacetabular osteotomy (PAO) is the preferred joint preserving treatment for young adults with symptomatic hip dysplasia and no osteoarthritis. In symptomatic dysplasia of the hip, there is labral pathology in up to 90% of cases. However, no consensus exists as to whether a labral tear should...... be treated before the periacetabular osteotomy (PAO), treated simultaneously with the PAO, or left alone and only treated if symptoms persist after the PAO. This review is an update of aspects of labral anatomy and function, the etiology of labral tears in hip dysplasia, and diagnostic assessment of labral...... tears, and we discuss treatment strategies for coexisting labral tears and hip dysplasia....

  20. Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly

    Directory of Open Access Journals (Sweden)

    Maria Francis Yuvaraj

    2017-01-01

    Full Text Available The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowledge about this condition is useful in the fields of Anatomy, Paediatrics, Obstetrics and Gynaecology, Ultrasonagraphy and Genetics, for future research purpose.

  1. Focal cemento-osseous dysplasia: review and a case report.

    Science.gov (United States)

    Salem, Y M Y; Osman, Y I; Norval, E J G

    2010-10-01

    Focal cemento-osseous dysplasia is a benign fibro-osseous condition that can be seen in dentate and edentulous patients. It is an asymptomatic lesion and needs no treatment; however follow-up is essential due to the possibility that focal cemento-osseous dysplasia can progress to a condition called florid osseous dysplasia that involves multiple sites. A case report is presented here, along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.

  2. Comparison of three methods to diagnose hip dysplasia in dogs

    International Nuclear Information System (INIS)

    Sharma, Vikas; Mohindroo, J.

    2009-01-01

    The present study was designed to compare the usefulness of goniometry, radiography and distraction index in diagnosis of hip dysplasia in dogs. During the study 25 clinical cases (50 joints) suspected for hip dysplasia were evaluated. Norberg angle was found to have a significant positive correlation with extension, flexion, abduction, and adduction angles and a significant negative correlation with distraction index (DI) measurements. It could be inferred that all the six parameters (NA, DI, extension, flexion, abduction, and adduction) were reliable indicators for early diagnosis of hip dysplasia.Goniometry could be used as a safe and easy method for preliminary suspicion of hip dysplasia

  3. [Mondini dysplasia: traumatic cerebrospinal fluid otorrhea with meningitis].

    Science.gov (United States)

    Kaftan, H; Adamaszek, M; Hosemann, W

    2006-08-01

    Mondini dysplasia is a rare malformation of the inner ear commonly associated with loss of hearing and vestibular function. Children with Mondini dysplasia are predisposed to developing a spontaneous cerebrospinal fluid (CSF) leak and recurrent meningitis. If there is no CSF leak but a unilateral hearing loss, the condition may go undiagnosed for years. We describe a 65-year-old man with unrecognized unilateral Mondini dysplasia who presented with CSF leak and meningoencephalitis after minor head trauma. Two operative interventions were undertaken to close the defect properly. Patients with Mondini dysplasia or their parents should be cautioned about the potential hazards of any head trauma.

  4. The Ectodermal Dysplasias : Severe Palmoplantar Hyperkeratosis And Chronic Angular Cheilitis

    Directory of Open Access Journals (Sweden)

    Mahajan Vikram K

    2003-01-01

    Full Text Available The ectodermal dysplasias are congenital, non-progressive and diffuse disorders affecting primarily the tissues derived from ectoderm. Over a period, their classification has become confusing due to indiscriminate use of them “ectodermal dysplasia” for numerous syndromes with a defect in one or more epidermal defect in each element of skin; their precise classification appears difficult as yet. Only X-linked recessive ectodermal dysplasia (Christ-Siemens-Touraine syndrome remains best defined. This paper describes three cases of ectodermal dysplasias highlighting their overlapping features.

  5. Operative correction and follow-up of craniofacial duplication.

    Science.gov (United States)

    Kotrikova, Bibiana; Hassfeld, Stefan; Steiner, Hans H; Hähnel, Stefan; Krempien, Robert; Mühling, Joachim

    2007-03-01

    Anterior craniofacial duplication (diprosopus) is an extremely rare form of conjoined twins. The children share a single trunk with normal extremities and varying degrees of facial malformation. Duplication of specific structures, such as the nose (diprosopus dirrhinus), eyes (diprosopus tetraophthalmus), and ears, is possible. The authors present a case of partial facial duplication (diprosopus dirrhinus) in a male infant. The clinical and radiographic findings and the surgical correction and follow-up are described. In a single surgical session, the authors were able to achieve not only a functionally but also an aesthetically acceptable result. In the postoperative course, the child showed nearly normal growth and satisfactory psychosocial and motor development. However, 40 months postoperatively, we noticed a tendency of the orbitae to diverge (i.e., toward hypertelorism). The surgical management of complex craniofacial malformations such as diprosopus needs a precise morphologic analysis of the patient's deformity followed by a clear treatment plan. A staged reconstructive approach is carried out to coincide with facial growth patterns and brain and eye function. If the interorbital distance in our patient increases progressively, a second operation for reduction of the interorbital distance may be necessary.

  6. Craniofacial resection in nasal cavity and paranasal sinus carcinoma

    International Nuclear Information System (INIS)

    Arias Garzon, Williams Rene; Cohn, Fabrizio; Toscano Mancheno, Roberto; Chonlong Saltos, Maria Jose

    2006-01-01

    The nasal cavity and paranasal sinus carcinoma include 1% of all malignant tumors and 3% in head and neck region. The majority of tumors of this region are squamous cell carcinomas, which rises in the maxillary sinus and generates symptoms when it reaches a great size. Treatment is very difficult. The Cat scan and magnetic resonance are helpful to evaluate the tumor extent, asses erode bone boundary and evaluate growth in soft tissues of intra skull like the dura overlying the frontal lobe and brain. The growth of the tumor in the anterior skull base is not a contraindication for surgical treatment. A combined intracranial facial approach to the paranasal sinuses carcinoma enables complete tumor resection and edges without neoplasm. The 5 year survival for patients who undergo anterior craniofacial resection is approximately 50 to 60%, and local tumor control is obtained in 65%. We present a patient with squamous carcinoma of superior maxillary antrum and skull base encroachment invasion resolved with craniofacial resection. (The author)

  7. Craniofacial Surgery and Adverse Outcomes: An Inquiry Into Medical Negligence.

    Science.gov (United States)

    Svider, Peter F; Eloy, Jean Anderson; Folbe, Adam J; Carron, Michael A; Zuliani, Giancarlo F; Shkoukani, Mahdi A

    2015-07-01

    This study aimed to evaluate factors contributing to medical negligence relevant to craniofacial surgery. Retrospective analysis of verdict and settlement reports on the Westlaw legal database for outcome, awards, physician defendants, and other specific factors raised in malpractice litigation. Of 42 verdicts and settlement reports included, 52.4% were resolved with either an out-of-court settlement or plaintiff verdict, with aggregate payments totaling $50.1M (in 2013 dollars). Median settlements and jury-awarded damages were $988,000 and $555,000, respectively. Payments in pediatric cases ($1.2M) were significantly higher. Plastic surgeons, oral surgeons, and otolaryngologists were the most commonly named defendants. The most common alleged factors included intraoperative negligence (69.0%), permanent deficits (54.8%), requiring additional surgery (52.4%), missed/delayed diagnosis of a complication (42.9%), disfigurement/scarring (28.6%), postoperative negligence (28.6%), and inadequate informed consent (20.6% of surgical cases). Failure to diagnose a fracture (19.0%) and cleft-reparative procedures (14.3%) were the most frequently litigated entities. Medical negligence related to craniofacial surgery involves plaintiffs in a wide age range as well as physician defendants in numerous specialties, and proceedings resolved with settlement and plaintiff verdict involve substantial payments. Cases with death, allegedly permanent injuries, and pediatric plaintiffs had significantly higher payments. © The Author(s) 2015.

  8. Creation of three-dimensional craniofacial standards from CBCT images

    Science.gov (United States)

    Subramanyan, Krishna; Palomo, Martin; Hans, Mark

    2006-03-01

    Low-dose three-dimensional Cone Beam Computed Tomography (CBCT) is becoming increasingly popular in the clinical practice of dental medicine. Two-dimensional Bolton Standards of dentofacial development are routinely used to identify deviations from normal craniofacial anatomy. With the advent of CBCT three dimensional imaging, we propose a set of methods to extend these 2D Bolton Standards to anatomically correct surface based 3D standards to allow analysis of morphometric changes seen in craniofacial complex. To create 3D surface standards, we have implemented series of steps. 1) Converting bi-plane 2D tracings into set of splines 2) Converting the 2D splines curves from bi-plane projection into 3D space curves 3) Creating labeled template of facial and skeletal shapes and 4) Creating 3D average surface Bolton standards. We have used datasets from patients scanned with Hitachi MercuRay CBCT scanner providing high resolution and isotropic CT volume images, digitized Bolton Standards from age 3 to 18 years of lateral and frontal male, female and average tracings and converted them into facial and skeletal 3D space curves. This new 3D standard will help in assessing shape variations due to aging in young population and provide reference to correct facial anomalies in dental medicine.

  9. Osseous dysplasia (cemento-osseous dysplasia) of the jaw bones in western Pennsylvania patients: analysis of 35 cases.

    Science.gov (United States)

    Owosho, Adepitan A; Potluri, Anitha; Bilodeau, Elizabeth A

    2013-01-01

    The purpose of this study is to analyze the demographic, clinical, and radiographic presentations of osseous dysplasia of the jaws in western Pennsylvania patients and its associated complications. The clinical records and radiographs of patients diagnosed with osseous (cement-osseous) dysplasia were retrieved from the electronic health record of the University of Pittsburgh, School of Dental Medicine from 2007 to 2012. All cases were reviewed; the WHO criteria and classification for osseous dysplasia was used. Clinical and demographic data, radiographic findings, and final diagnoses were collected and analyzed. 35 cases of osseous dysplasia were retrieved over the six-year period.The majority (33) were females [94.3%], with ages ranging from 26 to 89 years, with a mean age of 53.9 years +/- standard deviation of 15.6 years, 32 [91.4%] were African Americans and 3 [8.6%] were Caucasians. 17 [48.6%] were florid osseous dysplasia, 13 [37.1%] periapical osseous dysplasia and 5 [14.3%] focal osseous dysplasia. Of the 35 patients only 8 [22.9%] patients were symptomatic. All florid osseous dysplasia patients were African American females, with 7 of the patients being symptomatic and the commonest symptom being pain. Also, all periapical osseous dysplasia patients were African Americans (12 females and 1 male), with 1 of the patients presenting with widening of the diastema. Of the focal osseous dysplasia patients, 3 were Caucasians and 2 African American (4 females and 1 male). The cases occurred mostly in African American females with a peak incidence in the fifth and sixth decades of life; most cases occurred in the mandible. The commonest form of osseous dysplasias was the florid osseous dysplasia which is most likely to present with symptoms.

  10. Autosomal dominant mesomandibular fibro-osseous dysplasia: a self-resolving inherited fibro-osseous lesion of the jaws

    Directory of Open Access Journals (Sweden)

    Ioannis eKoutlas

    2012-12-01

    Full Text Available A hereditary congenital condition characterized by a fibro-osseous lesion sharing some features with fibrous dysplasia and affecting the middle aspect of the mandible is presented. The condition was initially described as congenital monostotic fibrous dysplasia in two siblings, a male and a female. However, there is sufficient evidence that the disorder is autosomal dominant since it has been encountered in two of four children, both males, of the female propositus and one child, a boy, of the male propositus. All patients presented at birth or right after birth with enlargement of the middle part of the mandible. Radiographs from affected individuals have shown mesomandibular enlargement with irregular trabeculation akin of ground-glass appearance. Histologically, samples from all patients revealed woven bone proliferation in a cellular fibroblastic stroma. Interestingly, the originally described siblings, now in their 30s, have no evidence of jaw lesions either radiographically or clinically, thus indicating that the condition is self-limiting or self-resolving. An autosomal dominant mode of inheritance with apparent male predilection is favored. The molecular basis of this condition is currently unknown. However, the location of the lesions in the middle aspect of the mandible suggests dysregulation of Bone Morphogenetic Protein signaling since BMPs regulate mandibular morphogenesis in utero, particularly in the medial region as well as postnatal bone remodeling. Immunohistochemical evaluation for a BMP-binding protein Twisted Gastrulation revealed mosaic pattern of staining, with some cells, including osteoclasts, strongly stained and others exhibiting faint or no staining, thus supporting active regulation of BMP signaling within the lesion. Future investigations will determine if dysregulation of BMP signaling plays a causative role or rather reflects secondary activation of repair mechanisms and/or bone remodeling.

  11. Filtration efficiency of an electrostatic fibrous filter: Studying filtration dependency on ultrafine particle exposure and composition

    DEFF Research Database (Denmark)

    Ardkapan, Siamak Rahimi; Johnson, Matthew S.; Yazdi, Sadegh

    2014-01-01

    The objective of the present study is to investigate the relationship between ultrafine particle concentrations and removal efficiencies for an electrostatic fibrous filter in a laboratory environment. Electrostatic fibrous filters capture particles efficiently, with a low pressure drop. Therefor...

  12. The Fate of DDH Hips Showing Cartilaginous or Fibrous Tissue-filled Joint Spaces Following Primary Reduction.

    Science.gov (United States)

    Kim, Hui Taek; Lee, Tae Hoon; Ahn, Tae Young; Jang, Jae Hoon

    Because the use of magnetic resonance imaging is still not universal for the patients with developmental dysplasia of the hip patients, orthopaedists do not generally distinguish widened joint spaces which are "empty" after primary treatment (and therefore still reducible), from those which are filled and much more difficult to treat. To date no studies have focused on the latter hips. We treated and observed the outcomes for 19 hips which showed filled joint spaces after primary treatment. We retrospectively reviewed 19 cases of developmental dysplasia of the hip: (1) who showed a widened joint space on radiographs after primary treatment; and (2) whose magnetic resonance imaging showed that the widened joint space was accompanied by acetabular cartilage hypertrophy and/or was filled with fibrous tissues. All patients were over 1 year old at the time of primary reduction (reduction was closed in 4 patients, open in 6, and open with pelvic osteotomy in 9). Thirteen patients received at least 1 secondary treatment. Final results were classified using a modified Severin classification. Final outcomes were satisfactory in 10 (52.6%) and unsatisfactory in 9 (47.4%). The widened joint spaces gradually filled with bone, resulting in a shallow acetabulum in the patients with unsatisfactory results. Of 9 patients who underwent combined pelvic osteotomy at the time of primary reduction, results were satisfactory in 6 (66.7%), whereas all patients who had only closed or open primary reduction had unsatisfactory results. Combined pelvic osteotomy at the time of primary reduction is advisable in hips with widened joint spaces. However, hips with filled joint spaces after primary treatment often have unsatisfactory results even after additional pelvic and/or femoral osteotomy. Level IV-prognostic study.

  13. Frictional behaviour of high performance fibrous tows: Friction experiments

    NARCIS (Netherlands)

    Cornelissen, Bo; Rietman, Bert; Akkerman, Remko

    2013-01-01

    Tow friction is an important mechanism in the production and processing of high performance fibrous tows. The frictional behaviour of these tows is anisotropic due to the texture of the filaments as well as the tows. This work describes capstan experiments that were performed to measure the

  14. Influence of bending deflection rate on properties of fibrous mortar

    Directory of Open Access Journals (Sweden)

    Metwally Abd Allah Abd el Aty

    2013-04-01

    Full Text Available Selection of the construction materials is affected by many factors including their properties under the applied loads. Loading rate is considered as a very important parameter which influences the behavior of the materials. Fibrous concrete is commonly used in applications in which the loading rate exceeds quasi static conditions by a large margin. This paper investigates the influence of flexural loading rate on the performance of fibrous concrete prisms in flexure. Two hundred and fifty two prisms include fibrous concrete and control specimens were prepared and tested. Fiber type, fiber dosage and flexural loading rate were the main parameters considered in this study. Two types of fibers were investigated namely polypropylene fibers and glass fibers. Three dosages of fiber volume fractions were implemented as 0.5%, 1.0% and 2.0%. A total of 12 different rates of displacement (0.0039 up to 8 mm/s for load application were conducted. A computer controlled universal testing machine provided with data acquisition system capable of performing 1000 loop per second was used. Load–central deflection, flexural strength and toughness were the evaluated properties for the investigated specimens. The results indicated that the flexure strength values exhibited loading rate dependence not only for the control mix but also for the investigated fibrous mortar mixes. Also the performance in flexure varied substantially not only with loading rate but with fiber type and fiber volume fractions as well.

  15. Giant solitary fibrous tumor of the lung: A case report

    OpenAIRE

    Xiao, Ping; Sun, Linlin; Zhong, Diansheng; Lian, Linjuan; Xu, Dongbo

    2014-01-01

    A solitary fibrous tumor arising from the lung parenchyma is rarely described. Here, we present the clinical, imaging, and histological features of a case of a 54-year-old woman with an incidental lung mass of the right lower lobe on a chest radiograph.

  16. Malignant fibrous histiocytoma of the parotid gland associated with polycythemia

    NARCIS (Netherlands)

    van Wingerden, J. J.; van Rensburg, P. G.; Coetzee, B. P.

    1986-01-01

    Although malignant fibrous histiocytoma (MFH) is thought to be the most common soft tissue tumor of late adult life, it is extremely uncommon in the parotid gland. A case of MFH in the parotid is reported, associated with polycythemia, which remitted following surgical extirpation of the tumor

  17. Examination of compression and resilience characteristics of fibrous insulation blankets

    International Nuclear Information System (INIS)

    Brislin, R.J.; Middleton, A.

    1979-08-01

    Load-deflection characteristics of alumina and alumino-silicate fibrous blankets were experimentally determined. Load retention and springback capability of combinations of these materials were measured in a 10,000-hour test at surface temperatures of 650 to 1000 0 C (1200 to 1832 0 F). Experimental results are presented and future testing plans are discussed

  18. Ultrasonographic Localization of Solitary Fibrous Tumor of Pleura: Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Kyoung Tae; Jeon, Yong Sun; Cho, Soon Gu; Kim, Kwang Ho; Lee, Kyung Hee [Inha University School of Medicine, Incheon (Korea, Republic of)

    2010-03-15

    Plain radiography and computed tomography are widely used in the field of chest disease. Yet ultrasonography has a limitation as a diagnostic tool, except in the case of pleural effusion and chest wall lesion. We experienced a case of solitary fibrous tumor of the diaphragmatic pleura, and the origin of this tumor could be exactly localized by ultrasonography, but not by other imaging modalities

  19. Ultrasonographic Localization of Solitary Fibrous Tumor of Pleura: Case Report

    International Nuclear Information System (INIS)

    Kim, Kyoung Tae; Jeon, Yong Sun; Cho, Soon Gu; Kim, Kwang Ho; Lee, Kyung Hee

    2010-01-01

    Plain radiography and computed tomography are widely used in the field of chest disease. Yet ultrasonography has a limitation as a diagnostic tool, except in the case of pleural effusion and chest wall lesion. We experienced a case of solitary fibrous tumor of the diaphragmatic pleura, and the origin of this tumor could be exactly localized by ultrasonography, but not by other imaging modalities

  20. Cemento-osseous dysplasia of the jaw bones: key radiographic features.

    Science.gov (United States)

    Alsufyani, N A; Lam, E W N

    2011-03-01

    The purpose of this study is to assess possible diagnostic differences between general dentists (GPs) and oral and maxillofacial radiologists (RGs) in the identification of pathognomonic radiographic features of cemento-osseous dysplasia (COD) and its interpretation. Using a systematic objective survey instrument, 3 RGs and 3 GPs reviewed 50 image sets of COD and similarly appearing entities (dense bone island, cementoblastoma, cemento-ossifying fibroma, fibrous dysplasia, complex odontoma and sclerosing osteitis). Participants were asked to identify the presence or absence of radiographic features and then to make an interpretation of the images. RGs identified a well-defined border (odds ratio (OR) 6.67, P < 0.05); radiolucent periphery (OR 8.28, P < 0.005); bilateral occurrence (OR 10.23, P < 0.01); mixed radiolucent/radiopaque internal structure (OR 10.53, P < 0.01); the absence of non-concentric bony expansion (OR 7.63, P < 0.05); and the association with anterior and posterior teeth (OR 4.43, P < 0.05) as key features of COD. Consequently, RGs were able to correctly interpret 79.3% of COD cases. In contrast, GPs identified the absence of root resorption (OR 4.52, P < 0.05) and the association with anterior and posterior teeth (OR 3.22, P = 0.005) as the only key features of COD and were able to correctly interpret 38.7% of COD cases. There are statistically significant differences between RGs and GPs in the identification and interpretation of the radiographic features associated with COD (P < 0.001). We conclude that COD is radiographically discernable from other similarly appearing entities only if the characteristic radiographic features are correctly identified and then correctly interpreted.

  1. Peripheral osteoma, compound odontoma, focal cemento-osseous dysplasia, and cemento-ossifying fibroma in the same hemimandible: CBCT findings of an unusual case.

    Science.gov (United States)

    Borghesi, Andrea; Tonni, Ingrid; Pezzotti, Stefania; Maroldi, Roberto

    2017-12-01

    Peripheral osteoma is the most common subtype of osteoma that arises most frequently in the craniofacial bones. It may occur at any age with a male-to-female ratio of 2:1. Peripheral osteoma may affect the mandible, particularly the ramus and the condyle. Compound odontoma is a subtype of odontoma that occurs in young subjects without gender predilection. It affects the maxilla more frequently than the mandible. Focal cemento-osseous dysplasia and cemento-ossifying fibroma are 2 benign fibro-osseous lesions with a female predominance that occur most commonly in the posterior region of the mandible. We report the first case involving the simultaneous occurrence of these 4 benign lesions in the same hemimandible diagnosed by CBCT.

  2. Peripheral osteoma, compound odontoma, focal cemento-osseous dysplasia, and cemento-ossifying fibroma in the same hemimandible: CBCT findings of an unusual case

    Directory of Open Access Journals (Sweden)

    Andrea Borghesi, MD

    2017-12-01

    Full Text Available Peripheral osteoma is the most common subtype of osteoma that arises most frequently in the craniofacial bones. It may occur at any age with a male-to-female ratio of 2:1. Peripheral osteoma may affect the mandible, particularly the ramus and the condyle. Compound odontoma is a subtype of odontoma that occurs in young subjects without gender predilection. It affects the maxilla more frequently than the mandible. Focal cemento-osseous dysplasia and cemento-ossifying fibroma are 2 benign fibro-osseous lesions with a female predominance that occur most commonly in the posterior region of the mandible. We report the first case involving the simultaneous occurrence of these 4 benign lesions in the same hemimandible diagnosed by CBCT.

  3. Cleidocranial dysplasia: Report of 4 cases and review

    Directory of Open Access Journals (Sweden)

    Virender Gombra

    2008-01-01

    Full Text Available Patients with cleidocranial dysplasia commonly present with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and often, the presence of supernumerary teeth. We report 4 cases of 2 families presenting with cleidocranial dysplasia disorder with their clinical and radiological diagnosis and illustrating its pathogenesis and various treatment modalities, review of literatures.

  4. Prevalence of Cervical Dysplasia among Women in Kano Municipal ...

    African Journals Online (AJOL)

    Fifty-seven women had cervical dysplasia giving a prevalence rate of 10.63%. Of the 57 women with cervical dysplasia, 21 (36.8%) had a low grade squamous intraepithelial lesions (LGSIL), while 36(63.2%) had a high grade squamous intraepithelial lesion (HGSIL). The disease was higher in grand multiparous clients ...

  5. Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

    NARCIS (Netherlands)

    Sousa, Sérgio B.; Russell-Eggitt, Isabelle; Hall, Christine; Hall, Bryan D.; Hennekam, Raoul C. M.

    2008-01-01

    There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy, without other significant impairments. The entity

  6. The Possible Relationship Between Mammary Dysplasia and Breast ...

    African Journals Online (AJOL)

    Aim: There is need to resolve the continuing difficult question regarding the possible relationship between mammary dysplasia and breast cancer. Method: This is a 30-year study of the incidences of both mammary dysplasia and breast cancer occurring among the Igbos, a major ethnic group in Nigeria, West Africa. Results: ...

  7. Joint space width in dysplasia of the hip

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Sonne-Holm, Stig; Søballe, K

    2005-01-01

    . Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...

  8. Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

    Science.gov (United States)

    ... Educational Resources (6 links) Cincinnati Children's Hospital: Coxa Vera Disease InfoSearch: Spondyloepiphyseal dysplasia tarda X-linked Johns ... Free article on PubMed Central Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ...

  9. Knee radiography in the diagnosis of skeletal dysplasias

    International Nuclear Information System (INIS)

    Kwee, Thomas C.; Beek, Frederik J.A.; Nievelstein, Rutger A.J.; Beemer, Frits A.

    2006-01-01

    Flattening of the epiphyses of long bones is seen in several skeletal dysplasias and standardized measurements on a radiograph of the knee to detect skeletal dysplasias using this feature have been described. Since then only two other studies in which this method was used have been published, and both included only a small number of children and neither had a control group. In addition, the Dutch National Working Group on Skeletal Dysplasias began to have doubts about the reliability of the method. We therefore decided to re-evaluate its accuracy in a population of children with and without a skeletal dysplasia. To determine the diagnostic value of standardized measurements on conventional AP radiographs of the knee in children with a skeletal dysplasia. Subjects and methods: We measured the distal femoral metaphysis and epiphysis according to the published method on conventional AP radiographs of the knee in 45 healthy children and 52 children with a skeletal dysplasia. We compared graphically the height of the distal femoral epiphysis with its width and with the width of the femoral metaphysis. Receiver operating characteristic (ROC) curves were calculated for each group of children. All graphs showed a considerable overlap between children with a skeletal dysplasia and healthy children. The size of the area under the ROC curves for the different groups was small, varying between 0.567 and 0.653. This method does not discriminate between children with a skeletal dysplasia and healthy children. We therefore consider it to be of little diagnostic value. (orig.)

  10. Management of high-grade dysplasia in Barrett's esophagus.

    Science.gov (United States)

    Palley, S L; Sampliner, R E; Garewal, H S

    1989-08-01

    When Barrett's esophagus is complicated by adenocarcinoma, surgery is indicated in appropriate patients. Until now, high-grade dysplasia in Barrett's esophagus has been managed in a similar fashion. We explore this approach and review reported cases of high-grade dysplasia to suggest guidelines for collection of data to make future clinical decisions more rational.

  11. Renal dysplasia and MRI: a clinician's perspective

    Energy Technology Data Exchange (ETDEWEB)

    Greenbaum, Larry A. [Emory University, Division of Pediatric Nephrology, Children' s Healthcare of Atlanta, Atlanta, GA (United States)

    2008-01-15

    Renal dysplasia is a common abnormality in children. The role of MRI in evaluating children with renal dysplasia is evolving. More information is clearly necessary before MRI replaces conventional imaging modalities. In order to appropriately use MRI, the radiologist must have an understanding of the clinical questions that are important in the management of children with renal dysplasia. This review provides background information on renal dysplasia for the pediatric radiologist. The focus is on unilateral disease, especially multicystic dysplastic kidneys, and bilateral dysplasia, which is the most common cause of kidney failure in children. The emphasis is on the important clinical issues, and the potential of MRI as a methodology for providing clinically useful information not otherwise available from other imaging modalities. (orig.)

  12. An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita

    Directory of Open Access Journals (Sweden)

    Onur Elbasan

    2017-12-01

    Full Text Available Skeletal dysplasia is a complex and rare disease group that presents with clinical and radiological findings that differ from classical metabolic bone diseases in which bone and cartilage tissue are affected together. Spondyloepiphyseal dysplasia conjenita with involvement of the spine and long bone epiphyses is seen with short stature and short body from birth. Although bone deformities such as shortness of neck and vertebrae, kyphosis, scoliosis, pectus carinatum, genu varum or valgum are frequent, association with osteopenia/osteoporosis has been rarely reported. Although spondyloepiphyseal dysplasia tarda and osteopenia are coexisting in the literature, there is no evidence of the association of spondyloepiphyseal dysplasia tarda and conjunctiva with osteoporosis. In our case report, we presented a patient who was applied to our center with short stature, diagnosed with osteoporosis and spondyloepiphyseal dysplasia congenita by detecting femur head aplasia in radiological imaging.

  13. Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Andersen, P.E. Jr.; Hauge, M.; Bang, J.

    1988-01-01

    Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)

  14. Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction

    International Nuclear Information System (INIS)

    Doody, O.; Adam, W. R.; Foley, P. T.; Lyon, S. M.

    2009-01-01

    Fibromuscular dysplasia (FMD) describes a group of conditions which cause nonatheromatous arterial stenoses, most commonly of the renal and carotid arteries, typically in young women. We report a rare case of bilateral segmental renal infarction secondary to FMD in a young male patient. His initial presentation with loin pain and pyrexia resulted in a delay in the definitive diagnosis of FMD. He was successfully treated with bilateral balloon angioplasty. The delayed diagnosis in this patient until the condition had progressed to bilateral renal infarcts highlights the need for prompt investigation and diagnosis of suspected cases of FMD.

  15. Diagnostic imaging of craniofacial trauma and fractures and their sequelae

    International Nuclear Information System (INIS)

    Buitrago-Tellez, C.H.; Kunz, C.

    2001-01-01

    The value and applications of the CT modalities are on the rise, particularly since the availability of spiral CT techniques, while conventional native diagnostics is increasingly used for special imaging purposes. Multiplanar spiral CT enables high-quality coronary 2D reconstructions which, in the acute phase, make redundant primary coronary imaging modalities. Exact knowledge of typical fracture patterns facilitates the analysis of images of the relevant facial areas. 3D reconstructions are indispensable in pin-pointed surgery planning, generation of stereolithographic models, and image-guided interventions for examination of post-traumatic deformities. Since a secondary correction only very rarely leads to restitutio ad integrum, it is necessary to detect the therapy-relevant injuries very early, during acute diagnostic imaging, in order to lay the basis for subsequent therapy and restoration of the craniofacial structures and functions. (orig./CB) [de

  16. Sella turcica-Its importance in orthodontics and craniofacial morphology

    Directory of Open Access Journals (Sweden)

    Haritha Pottipalli Sathyanarayana

    2013-01-01

    Full Text Available The sella turcica is a structure which can be readily seen on lateral cephalometric radiographs and sella point is routinely traced for various cephalometric analyses. The search was carried out using the following key words (sella turcica, bridging of sella, size, shape of sella turcica and with the following search engine (Pubmed, Cochrane, Google scholar. The morphology is very important for the cephalometric position of the reference point sella, not only for evaluating craniofacial morphology, but also when growth changes and orthodontic treatment results are to be evaluated. This makes it a good source of additional diagnostic information related to pathology of the pituitary gland, or to various syndromes that affect the craniofacial region. Clinicians should be familiar with the normal radiographic anatomy and morphologic variability of this area, in order to recognize and investigate deviations that may reflect pathological situations, even before these become clinically apparent. During embryological development, the sella turcica area is the key point for the migration of the neural crest cells to the frontonasal and maxillary developmental fields. The neural crest cells are involved in the formation and development of sella turcica and teeth. The size of sella turcica ranges from 4 to 12 mm for the vertical and 5 to 16 mm for the anteroposterior dimension. There are many classification systems regarding the shape of sella turcica. Majority of the studies show that about 67% of the subjects had normal appearance and about 33% showed variations. The prevalence of sella turcica bridging is high in class III malocclusions and dental anomalies.

  17. DNA Fingerprinting Abnormalities Can Distinguish Ulcerative Colitis Patients with Dysplasia and Cancer from Those Who Are Dysplasia/Cancer-Free

    Science.gov (United States)

    Chen, Ru; Rabinovitch, Peter S.; Crispin, David A.; Emond, Mary J.; Koprowicz, Kent M.; Bronner, Mary P.; Brentnall, Teresa A.

    2003-01-01

    Patients with extensive ulcerative colitis (UC) of longer than 8 years duration are at high risk for the development of colorectal cancer. The cancers in these patients appear to develop in a stepwise manner with progressive histological changes from negative for dysplasia → indefinite for dysplasiadysplasia → cancer. The aim of this study was to determine the timing and extent of genomic instability in the progression of UC dysplasia and cancer. Using two polymerase chain reaction (PCR)-based DNA fingerprinting methods, arbitrarily primed PCR and intersimple sequence repeat PCR, we assessed DNA sequence variation in biopsies across the spectrum of cancerous, dysplastic, and nondysplastic mucosa. UC patients with dysplasia/cancer had substantial genomic instability in both their dysplastic and nondysplastic colonic mucosa, whereas instability was not present in the majority of UC patients without dysplasia/cancer. The degree of instability in nondysplastic tissue was similar to that of dysplastic/cancerous mucosa from the same patient, suggesting that this instability was widespread and reached the maximum level early in neoplastic progression. These results suggest that UC patients who develop dysplasia or cancer have an underlying process of genomic instability in their colonic mucosa whereas UC patients who are dysplasia-free do not. PMID:12547724

  18. Craniofacial duplication (diprosopus): report of a case with a review of the literature.

    Science.gov (United States)

    Amr, S S; Hammouri, M F

    1995-01-01

    A case of craniofacial duplication (diprosopus) is presented. Details on this rare form of conjoined twins are described, and the proposed theories of its embryogenesis are discussed with brief review of the pertinent literature.

  19. 77 FR 35990 - National Institute of Dental and Craniofacial Research; Notice of Closed Meeting

    Science.gov (United States)

    2012-06-15

    ... Craniofacial Research Special Emphasis Panel; Molecular Characterization of Salivary Tumors RFA: R01 and R21...: Jayalakshmi Raman, Ph.D., Scientific Review Officer, Scientific Review Branch, National Institute of Dental...

  20. Extensive expression of craniofacial related homeobox genes in canine mammary sarcomas

    NARCIS (Netherlands)

    Wensman, H.; Goransson, H.; Leuchowius, K.J.; Stromberg, S.; Ponten, F.; Isaksson, A.; Rutteman, G.R.; Heldin, N.; Pejler, G.; Hellmen, E.

    2009-01-01

    Extensive expression of craniofacial related homeobox genes in canine mammary sarcomas Journal Breast Cancer Research and Treatment Publisher Springer Netherlands ISSN 0167-6806 (Print) 1573-7217 (Online) Issue Volume 118, Number 2 / November, 2009 Category Preclinical Study DOI

  1. Removal of symptomatic craniofacial titanium hardware following craniotomy: Case series and review

    Directory of Open Access Journals (Sweden)

    Sheri K. Palejwala

    2015-06-01

    Full Text Available Titanium craniofacial hardware has become commonplace for reconstruction and bone flap fixation following craniotomy. Complications of titanium hardware include palpability, visibility, infection, exposure, pain, and hardware malfunction, which can necessitate hardware removal. We describe three patients who underwent craniofacial reconstruction following craniotomies for trauma with post-operative courses complicated by medically intractable facial pain. All three patients subsequently underwent removal of the symptomatic craniofacial titanium hardware and experienced rapid resolution of their painful parasthesias. Symptomatic plates were found in the region of the frontozygomatic suture or MacCarty keyhole, or in close proximity with the supraorbital nerve. Titanium plates, though relatively safe and low profile, can cause local nerve irritation or neuropathy. Surgeons should be cognizant of the potential complications of titanium craniofacial hardware and locations that are at higher risk for becoming symptomatic necessitating a second surgery for removal.

  2. The Role of Sonic Hedgehog in Craniofacial Patterning, Morphogenesis and Cranial Neural Crest Survival.

    Science.gov (United States)

    Dworkin, Sebastian; Boglev, Yeliz; Owens, Harley; Goldie, Stephen J

    2016-08-03

    Craniofacial defects (CFD) are a significant healthcare problem worldwide. Understanding both the morphogenetic movements which underpin normal facial development, as well as the molecular factors which regulate these processes, forms the cornerstone of future diagnostic, and ultimately, preventative therapies. The soluble morphogen Sonic hedgehog ( Shh ), a vertebrate orthologue of Drosophila hedgehog , is a key signalling factor in the regulation of craniofacial skeleton development in vertebrates, operating within numerous tissue types in the craniofacial primordia to spatiotemporally regulate the formation of the face and jaws. This review will provide an overview of normal craniofacial skeleton development, and focus specifically on the known roles of Shh in regulating the development and progression of the first pharyngeal arch, which in turn gives rise to both the upper jaw (maxilla) and lower jaw (mandible).

  3. The Role of Sonic Hedgehog in Craniofacial Patterning, Morphogenesis and Cranial Neural Crest Survival

    Directory of Open Access Journals (Sweden)

    Sebastian Dworkin

    2016-08-01

    Full Text Available Craniofacial defects (CFD are a significant healthcare problem worldwide. Understanding both the morphogenetic movements which underpin normal facial development, as well as the molecular factors which regulate these processes, forms the cornerstone of future diagnostic, and ultimately, preventative therapies. The soluble morphogen Sonic hedgehog (Shh, a vertebrate orthologue of Drosophila hedgehog, is a key signalling factor in the regulation of craniofacial skeleton development in vertebrates, operating within numerous tissue types in the craniofacial primordia to spatiotemporally regulate the formation of the face and jaws. This review will provide an overview of normal craniofacial skeleton development, and focus specifically on the known roles of Shh in regulating the development and progression of the first pharyngeal arch, which in turn gives rise to both the upper jaw (maxilla and lower jaw (mandible.

  4. 78 FR 45934 - The National Institute of Dental and Craniofacial Research (NIDCR) Strategic Plan Request for...

    Science.gov (United States)

    2013-07-30

    ... diseases and disorders, has a distinguished record of supporting research to advance the oral health of the... revolutionizing how we understand, prevent, diagnose and manage dental, oral, and craniofacial diseases and...

  5. Extraction of uranium from sea water by means of fibrous complex adsorbents

    International Nuclear Information System (INIS)

    Miyamatsu, Tokuhisa; Oguchi, Noboru; Kanchiku, Yoshihiko; Aoyagi, Takanobu

    1982-01-01

    Fibrous complex adsorbents for uranium extraction from sea water were prepared by introducing titanic acid or basic zinc carbonate as effective constituents into fibrous ion exchangers. A fibrous chelate type adsorbent was also tested. Among the adsorbents examined, the following ones demonstrated excellent properties for the recovery of uranium from sea water. a) A fibrous, weakly acidic cation exchanger was treated with titanyl sulfate in aqueous sulfuric acid solution, which was followed by neutralization to afford a fibrous adsorbent containing titanic acid (QC-1f(Ti)). The adsorption capacity for uranium in sea water was estimated by extrapolation to be 50μg-U/g-Ad or 1170 μg-U/g-Ti. b) A fibrous, strongly acidic cation exchanger was treated in a similar way to afford another type of fibrous adsorbent with titanic acid incorporated (QCS-Ti). The adsorption capacity was estimated by extrapolation to be 20-30 μg-U/g-Ad. (author)

  6. Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

    Science.gov (United States)

    Goldfarb, Charles A; Manske, Paul R; Busa, Riccardo; Mills, Janith; Carter, Peter; Ezaki, Marybeth

    2005-12-01

    In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral

  7. Arrhythmogenic right ventricular dysplasia: MRI findings

    International Nuclear Information System (INIS)

    Wall, E.E. van der; Bootsma, M.M.; Schalij, M.J.; Kayser, H.W.M.; Roos, A. de

    2000-01-01

    Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disorder of unknown cause that is characterized pathologically by fibrofatty replacement of the right ventricular myocardium. Clinical manifestations include structural and functional malformations of the right ventricle, electrocardiographic abnormalities, and presentation with ventricular tachycardias with left bundle branch pattern or sudden death. The disease is often familial with an autosomal inheritance. In addition to right ventricular dilatation, right ventricular aneurysms are typical deformities of ARVD and they are distributed in the so-called ''triangle of dysplasia'', i. e., right ventricular outflow tract, apex, and infundibulum. Ventricular aneurysms at these sites can be considered pathognomonic of ARVD. Another typical hallmark of ARVD is fibrofatty infiltration of the right ventricular free wall. These functional and morphologic characteristics are relevant to clinical imaging investigations such as contrast angiography, echocardiography, radionuclide angiography, ultrafast computed tomography, and magnetic resonance imaging (MRI). Among these techniques, MRI allows the clearest visualization of the heart, in particular because the right ventricle is involved, which is usually more difficult to explore with the other imaging modalities. Furthermore, MRI offers the specific advantage of visualizing adipose infiltration as a bright signal of the right ventricular myocardium. MRI provides the most important anatomic, functional, and morphologic criteria for diagnosis of ARVD within one single study. As a result, MRI appears to be the optimal imaging technique for detecting and following patients with clinical suspicion of ARVD. (orig.) [de

  8. Mondini dysplasia and congenital cytomegalovirus infection.

    Science.gov (United States)

    Bauman, N M; Kirby-Keyser, L J; Dolan, K D; Wexler, D; Gantz, B J; McCabe, B F; Bale, J F

    1994-01-01

    We report a case of bilateral temporal bone anomalies in a child with symptomatic congenital cytomegalovirus infection and severe, bilateral sensorineural hearing loss identified at 3 months of age. High-resolution temporal bone computed tomography (HRCT) revealed bilateral findings of a short, malformed cochlea lacking an interscalar septum, a short and wide internal auditory canal, and an enlarged vestibular aqueduct, features diagnostic of bilateral Mondini dysplasia. To determine the importance of this observation, we completed HRCT in five additional children between 7 months and 9 years of age who had evidence of symptomatic congenital cytomegalovirus infection. One child with profound sensorineural hearing loss had severe bilateral temporal bone dysplasia with a small cochlea lacking an interscalar septum, an abnormal vestibule, and a large cochlear aqueduct. Of the remaining four children, hearing thresholds ranged from normal to profoundly decreased, but their HRCT scans were normal to visual inspection. When inner ear dimensions of these temporal bones were compared with norms established by Pappas and coworkers, however, seven of the eight ears had short cochleas and narrow lateral semicircular canals, and three ears had short or narrow vestibules. These results indicate that congenital cytomegalovirus infection may cause anomalies or growth disturbances of the temporal bone.

  9. Placental Mesenchymal Dysplasia: A Case Report

    Directory of Open Access Journals (Sweden)

    Rachna Agarwal

    2012-01-01

    Full Text Available Introduction. A rare case of histologically proven placental mesenchymal dysplasia (PMD with fetal omphalocele in a 22-year-old patient is reported. Material and Methods. Antenatal ultrasound of this patient showed hydropic placenta with a live fetus of 17 weeks period of gestation associated with omphalocele. Cordocentesis detected the diploid karyotype of the fetus. Patient, when prognosticated, choose to terminate the pregnancy in view of high incidence of fetal and placental anomalies. Subsequent histopathological examination of placenta established the diagnosis to be placental mesenchymal dysplasia. Conclusion. On clinical and ultrasonic grounds, suspicion of P.M.D. arises when hydropic placenta with a live fetus presents in second trimester of pregnancy. Cordocentesis can detect the diploid karyotype of the fetus in such cases. As this condition is prognostically better than triploid partial mole, continuation of pregnancy can sometimes be considered after through antenatal screening and patient counseling. However, a definite diagnosis of P.M.D. is made only on placental histology by absence of trophoblast hyperplasia and trophoblastic inclusions.

  10. Trochleoplasty in major trochlear dysplasia: current concepts

    Directory of Open Access Journals (Sweden)

    Beaufils Philippe

    2012-02-01

    Full Text Available Abstract Trochleoplasty is the theoretical solution to persistent symptoms (pain and/or instability related to trochlear dysplasia where there is not only a trochlear flatness but also a trochlear prominence. The threshold of prominence indicating surgical intervention has as yet not been determined. A bump of 5 mm is generally accepted as the inferior limit. Given the interventional nature of this demanding procedure, it should be proposed in selected cases after considerable discussion with the patient. Trochleoplasty is indicated as a primary procedure for major trochlear dysplasia with a prominence > 5 mm. Stabilization is obtained in most of the cases with the risk of residual mild anterior knee pain. It is also indicated as a salvage procedure when a previous surgery failed. Despite the reputation of the procedure, the published results are encouraging in terms of prevention of re-dislocation, satisfaction index, and radiological outcomes. Post-operative stiffness is the main complication, which may require manipulation under anaesthesia or arthroscopic arthrolysis. There are few other complications reported and to date secondary necrosis of the trochlea has not been reported. Technically speaking, the deepening trochleoplasty is a difficult procedure without reliable landmarks. We propose a recession wedge trochleoplasty which is an easier procedure. It is never undertaken as an isolated procedure, but always in conjunction with other realignment procedures of the extensor apparatus according to the "a la carte" surgery concept.

  11. Septo-optic dysplasia with pachygyria

    Directory of Open Access Journals (Sweden)

    Abhay A Lune

    2014-01-01

    Full Text Available Optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with the absence of the septum pellucidum or thinning of corpus callosum and pituitary hypoplasia, it is termed septo-optic dysplasia. Pachygyria is a rare congenital disorder characterized by a defect in migration of cerebral neurons resulting in failure of cortical gyri to develop.We report a case of a young learning-disabled male presenting with decreased vision, nystagmus, esotropia,, and seizures since childhood. Fundoscopy revealed bilateral optic nerve hypoplasia. Growth hormone levels were reduced. Magnetic resonance imaging revealed thinned optic nerves, optic chiasma and pituitary infundibulum, absent septum pellucidum, box-shaped ventricles and right frontal cortical thickening with few and broad gyri.This case report highlights a rare case of septo-optic dysplasia with pachygyria. It also emphasizes that every patient with optic nerve hypoplasia should have an endocrinal and neurological evaluation and neuro-radiographic imaging for associated abnormalities.

  12. Carbon-based fibrous EDLC capacitors and supercapacitors

    OpenAIRE

    Lekakou, C; Moudam, O; Markoulidis, F; Andrews, T; Watts, JF; Reed, GT

    2011-01-01

    This paper investigates electrochemical double-layer capacitors (EDLCs) including two alternative types of carbon-based fibrous electrodes, a carbon fibre woven fabric (CWF) and a multiwall carbon nanotube (CNT) electrode, as well as hybrid CWF-CNT electrodes. Two types of separator membranes were also considered. An organic gel electrolyte PEO-LiCIO4-EC-THF was used to maintain a high working voltage. The capacitor cells were tested in cyclic voltammetry, charge-discharge, and impedance test...

  13. Radiative Heat Transfer Modeling in Fibrous Porous Media

    Science.gov (United States)

    Sobhani, Sadaf; Panerai, Francesco; Borner, Arnaud; Ferguson, Joseph C.; Wray, Alan; Mansour, Nagi N.

    2017-01-01

    Phenolic-Impregnated Carbon Ablator (PICA) was developed at NASA Ames Research Center as a lightweight thermal protection system material for successful atmospheric entries. The objective of the current work is to compute the effective radiative conductivity of fibrous porous media, such as preforms used to make PICA, to enable the efficient design of materials that can meet the thermal performance goals of forthcoming space exploration missions.

  14. Malignant fibrous histiocytoma of pancreas: presentation of a case

    International Nuclear Information System (INIS)

    Garcia Sanchez, M.A.; Serrano Gotarredona, M.P.; Fernandez-Cruz, J.; Marrero Calvo, S.

    1995-01-01

    We present a case of malignant fibrous histiocytoma (MFH) located in the body and tail of the pancreas of a 60-year-old woman. The mass was large, lobulated and well delimited by a pseudocapsule. Pancreatectomy involving the body and tail and splenectomy were performed and the diagnosis was reached on the basis of pathological and immunohistochemical studies. The course was aggressive with local recurrence and liver metastases presenting two months after the operation. The computerized tomography (CT) findings are provided. (Author)

  15. Partial craniofacial duplication: a review of the literature and case report.

    Science.gov (United States)

    Costa, Melinda A; Borzabadi-Farahani, Ali; Lara-Sanchez, Pedro A; Schweitzer, Daniela; Jacobson, Lia; Clarke, Noreen; Hammoudeh, Jeffery; Urata, Mark M; Magee, William P

    2014-06-01

    Diprosopus (Greek; di-, "two" + prosopon, "face"), or craniofacial duplication, is a rare craniofacial anomaly referring to the complete duplication of facial structures. Partial craniofacial duplication describes a broad spectrum of congenital anomalies, including duplications of the oral cavity. This paper describes a 15 month-old female with a duplicated oral cavity, mandible, and maxilla. A Tessier type 7 cleft, midline meningocele, and duplicated hypophysis were also present. The preoperative evaluation, surgical approach, postoperative results, and a review of the literature are presented. The surgical approach was designed to preserve facial nerve innervation to the reconstructed cheek and mouth. The duplicated mandible and maxilla were excised and the remaining left maxilla was bone grafted. Soft tissue repair included closure of the Tessier type VII cleft. Craniofacial duplication remains a rare entity that is more common in females. The pathophysiology remains incompletely characterized, but is postulated to be due to duplication of the notochord, as well as duplication of mandibular growth centres. While diprosopus is a severe deformity often associated with anencephaly, patients with partial duplication typically benefit from surgical treatment. Managing craniofacial duplication requires a detailed preoperative evaluation as well as a comprehensive, staged treatment plan. Long-term follow up is needed appropriately to address ongoing craniofacial deformity. Published by Elsevier Ltd.

  16. The fusion of craniofacial reconstruction and microsurgery: a functional and aesthetic approach.

    Science.gov (United States)

    Broyles, Justin M; Abt, Nicholas B; Shridharani, Sachin M; Bojovic, Branko; Rodriguez, Eduardo D; Dorafshar, Amir H

    2014-10-01

    Reconstruction of large, composite defects in the craniofacial region has evolved significantly over the past half century. During this time, there have been significant advances in craniofacial and microsurgical surgery. These contributions have often been in parallel; however, over the past 10 years, these two disciplines have begun to overlap more frequently, and the techniques of one have been used to advance the other. In the current review, the authors aim to describe the available options for free tissue reconstruction in craniofacial surgery. A review of microsurgical reconstructive options of aesthetic units within the craniofacial region was undertaken with attention directed toward surgeon flap preference. Anatomical areas analyzed included scalp, calvaria, forehead, frontal sinus, nose, maxilla and midface, periorbita, mandible, lip, and tongue. Although certain flaps such as the ulnar forearm flap and lateral circumflex femoral artery-based flaps were used in multiple reconstructive sites, each anatomical location possesses a unique array of flaps to maximize outcomes. Craniofacial surgery, like plastic surgery, has made tremendous advancements in the past 40 years. With innovations in technology, flap design, and training, microsurgery has become safer, faster, and more commonplace than at any time in history. Reconstructive microsurgery allows the surgeon to be creative in this approach, and free tissue transfer has become a mainstay of modern craniofacial reconstruction.

  17. Relationship between flexible flat foot and developmental hip dysplasia.

    Science.gov (United States)

    Ponce de León Samper, M C; Herrera Ortiz, G; Castellanos Mendoza, C

    2015-01-01

    To evaluate the possible relationship between flexible flat foot and developmental hip dysplasia in children between six and 15 years of age. Cross-sectional study including 65 patients that had undergone surgery due to residual hip dysplasia or hip dislocation and compared against 75 healthy patients. Flexible flat foot prevalence was measured in each group, with the results showing that 61% of the group with residual hip dysplasia or hip dislocation had this condition, vs. 12% in the healthy group. The statistical analysis shows that the chances of suffering from flexible flat foot, are five times greater in the hip dysplasia or hip dislocation group, than in the healthy group. There is no evidence in the literature showing a relationship between these two conditions, even though they have a common etiology. This study shows a potential measurable relation between this two conditions. Patients with hip dysplasia or dislocation may have a higher chance of presenting flexible flat foot during late childhood, adolescence and adulthood, a fact that suggests a relationship between these two pathologies. Also, patients who seek assistance for the first time because of a flexible flat foot condition without having been evaluated during the first year of life for hip dysplasia, would be better off if evaluated for residual hip dysplasia. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.

  18. Expanding the phenome and variome of skeletal dysplasia.

    Science.gov (United States)

    Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan E; Anazi, Shams; Ewida, Nour; Alsaif, Hessa S; Mohamed, Jawahir Y; Alazami, Anas M; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari, Muneera; Alsagheir, Afaf; Seidahmed, Mohammed Zain; Sogati, Samira; Aglan, Mona S; Hamad, Muddathir H; Salih, Mustafa A; Hamed, Ahlam A; Alhashmi, Nadia; Nabil, Amira; Alfadli, Fatima; Abdel-Salam, Ghada M H; Alkuraya, Hisham; Peitee, Winnie Ong; Keng, W T; Qasem, Abdullah; Mushiba, Aziza M; Zaki, Maha S; Fassad, Mahmoud R; Alfadhel, Majid; Alexander, Saji; Sabr, Yasser; Temtamy, Samia; Ekbote, Alka V; Ismail, Samira; Hosny, Gamal Ahmed; Otaify, Ghada A; Amr, Khalda; Al Tala, Saeed; Khan, Arif O; Rizk, Tamer; Alaqeel, Aida; Alsiddiky, Abdulmonem; Singh, Ankur; Kapoor, Seema; Alhashem, Amal; Faqeih, Eissa; Shaheen, Ranad; Alkuraya, Fowzan S

    2018-04-05

    PurposeTo describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.MethodsDetailed phenotyping and next-generation sequencing (panel and exome).ResultsOur analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average.ConclusionBy expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.GENETICS in MEDICINE advance online publication, 5 April 2018; doi:10.1038/gim.2018.50.

  19. Feed Technology of Fibrous Sugarcane Residues for Ruminants

    Directory of Open Access Journals (Sweden)

    Kuswandi

    2007-06-01

    Full Text Available Abundant sugarcane residue during shortage of roughage in dry season gives an opportunity to raise ruminants around sugarcane industries. However, these products are not widely used by farmers due to an assumption that the usage is inefficient and that the feed utilization technology is not widely recognized. Sugarcane fibrous residues (tops, bagasse and pith may be a potential feed component if pre-treated to increase its digestion and consumption by the animal, and/or supplemented by other ingredients to balance nutrients in the rumen as well as those for production purpose. Digestibility can be increased by chemical treatments such as ammoniation and other alkaline treatments, whereas consumption can be increased by physical treatments such as grinding, hammermilling or pelleting. Nutrients that are missing in these fibrous residues can be provided by addition of urea, molasses and minerals for maintenance need, and bypass nutrients (carbohydrates, protein and fats that are digested in the small intestine and available for tissue or milk synthesis. There are three options for development of livestock agribusiness based on fibrous sugarcane residues; however, these require several technologies to optimize the utilization of these residues.

  20. Correlation of Beta Angle with Antero-Posterior Dysplasia Indicators and FMA: An Institution Based Cephalometric Study.

    Science.gov (United States)

    Singh, Gurinder; Verma, Sanjeev; Singh, Devinder Preet; Yadav, Sumit Kumar; Yadav, Achla Bharti

    2016-11-01

    Beta angle utilizes three skeletal landmarks - point A, point B, and point C (the apparent axis of the condyle). It is formed between A-B line and point A perpendicular to C-B line. Further this angle indicates the severity and the type of skeletal dysplasia in the sagittal dimension and it changes with the growth pattern of the patient. Hence, it is important to study the dependence of beta angle on the growth pattern. The present study was designed to evaluate the correlation of Beta angle with point A-Nasion-point B (ANB) angle, points A and B to palatal plane (App-Bpp), Wit's appraisal and Maxillary-Mandibular plane angle Bisector (MMB) and Frankfort-Mandibular plane Angle (FMA) in Skeletal Class I, Class II and Class III malocclusion groups. Pre-treatment lateral head cephalo-grams of 120 subjects in age group of 15-25 years were obtained. Three skeletal Class I, Class II and Class III malocclusion groups (40 each) were assorted on the basis of ANB, MMB, App-Bpp, Wit's appraisal and FMA. Analysis of variance (ANOVA) and mean differences were calculated to compare the study groups. Bivariate correlations among different parameters of these groups were obtained. Normal values of beta angle in skeletal Class I group, skeletal Class II group and skeletal Class III group was 31.33±3.25, 25.28±4.28 and 40.93±4.55 respectively. Overall beta angle showed a strong correlation with all parameters of anterio-posterior dysplasia indicators except FMA. Beta angle shows weak correlation with FMA and is not affected by growth pattern/jaw rotation. The normal values are in same range irrespective of the differences in craniofacial morphology.

  1. A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.

    Science.gov (United States)

    Agerholm, Jørgen S; McEvoy, Fintan J; Heegaard, Steffen; Charlier, Carole; Jagannathan, Vidhya; Drögemüller, Cord

    2017-08-02

    Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. Seven malformed calves were submitted examination. All cases shared a common morphology with the most striking lesions being severe facial dysplasia and complete prolapse of the eyes. Consequently the syndrome was named facial dysplasia syndrome (FDS). Furthermore, extensive brain malformations, including microencephaly, hydrocephalus, lobation of the cerebral hemispheres and compression of the brain were present. Subsequent data analysis of progeny of the sire revealed that around 0.5% of his offspring suffered from FDS. High density single nucleotide polymorphism (SNP) genotyping data of the seven cases and their parents were used to map the defect in the bovine genome. Significant genetic linkage was obtained for three regions, including chromosome 26 where whole genome sequencing of a case-parent trio revealed two de novo variants perfectly associated with the disease: an intronic SNP in the DMBT1 gene and a single non-synonymous variant in the FGFR2 gene. This FGFR2 missense variant (c.927G>T) affects a gene encoding a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and across species. It is predicted to change an evolutionary conserved tryptophan into a cysteine residue (p.Trp309Cys). Both variant alleles were proven to result from de novo mutation events in the germline of the sire. FDS is a novel genetic disorder of Holstein cattle. Mutations in the human FGFR2 gene are associated with various dominant inherited craniofacial dysostosis syndromes. Given

  2. Prosthodontic management of a patient with ectodermal dysplasia.

    Science.gov (United States)

    Nandini, Yamini

    2013-12-01

    Ectodermal dysplasia is a rare congenital disease that affects the ectodermal structures. It is characterized by hypotrichosis, hypohidrosis and hypodontia. A 14-year-old boy with ectodermal dysplasia presenting with oligodontia and marked resorption of the maxillary and mandibular alveolar ridges is reported. Prosthetic rehabilitation in the form of a maxillary and mandibular partial denture was made with metal crowns on existing lower teeth to achieve appropriate vertical dimension. Significant improvement in speech, masticatory function and facial esthetics was achieved. Removable prosthodontics can provide an acceptable solution to esthetic, functional and psychological rehabilitation in patients with ectodermal dysplasia.

  3. 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.

  4. 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.

  5. Polypoidal Intestinal Metaplasia and Dysplasia of the External Urethral Meatus

    Directory of Open Access Journals (Sweden)

    Mary Mathew

    2012-01-01

    Full Text Available Urethral mucosa with intestinal metaplasia and dysplasia is a rare occurrence. To date only a single case has been reported in a male with long-standing urethral stricture. We present a 33-year-old female with polypoid intestinal metaplasia and dysplasia of the external urethral meatus in the absence of an inciting factor. Intestinal metaplasia of the urethral mucosa may undergo dysplasia, emphasizing the necessity of a high degree of clinical suspicion and vigilant pathological examination of these lesions.

  6. Focal cemento-osseous dysplasia masquerading as a residual cyst.

    Science.gov (United States)

    Bhandari, Rajat; Sandhu, Simarpreet V; Bansal, Himanta; Behl, Rashi; Bhullar, Ramanpreet Kaur

    2012-04-01

    Focal cemento-osseous dysplasia (FCOD) is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.

  7. Focal cemento-osseous dysplasia masquerading as a residual cyst

    Directory of Open Access Journals (Sweden)

    Rajat Bhandari

    2012-01-01

    Full Text Available Focal cemento-osseous dysplasia (FCOD is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.

  8. [Florid cemento-osseous dysplasia of the jaws].

    Science.gov (United States)

    Benazzou, S; Boulaadas, M; El Ayoubi, A; Nazih, N; Essakalli, L; Kzadri, M

    2011-06-01

    Florid cemento-osseous dysplasia is a benign and rare tumor of the jaws. It is more commonly seen in middle-aged black women. Most cases are asymptomatic and are found during routine radiographic examination. We report two complicated cases of florid cemento-osseous dysplasia, one with facial deformity and the other with chronic osteitis. The diagnosis of florid cemento-osseous dysplasia is based on clinical and radiological features. The lesions are commonly bilateral and symmetrical. Copyright © 2011. Published by Elsevier Masson SAS.

  9. [Protein-energy malnutrition in patients with connective tissue dysplasia].

    Science.gov (United States)

    Lialiukova, E A

    2013-01-01

    In the conditions of the specialized Center of a dysplasia of a connecting tissue the assessment of an protein--energy malnutrition at 121 patients with signs of a dysplasia of a connecting tissue is carried out. High frequency of an oligotrophy at patients with a dysplasia of a connecting tissue is registered. The I degree of a gipotorofiya is taped at 26.21% of the patients, II degree--at 18.44%, the III degree--at 3.88% of patients.

  10. A new type of spondylo-metaphyseal dysplasia - Algerian type

    International Nuclear Information System (INIS)

    Kozlowski, K.; Bacha, L.; Massen, R.; Ayati, M.; Sator, S.; Brahimi, L.

    1988-01-01

    A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia. (orig.)

  11. Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

    2010-06-15

    Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

  12. Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Mostert, A.K. [Isala Clinics, Location Weezenlanden, Dept. of Orthopaedic Surgery, Zwolle (Netherlands); Dijkstra, P.F. [Jan van Breemen Inst., Dept. of Radiology, Amsterdam (Netherlands); Horn, J.R. van [Univ. Hospital Groningen, Dept. of Orthopaedic Surgery, Groningen (Netherlands); Jansen, B.R.H. [Reinier de Graaf Hospital, Dept. of Orthopaedic Surgery, Delft (Netherlands); Heutink, P. [Erasmus MCRotterdam, Dept. of Clinical Genetics, Rotterdam (Netherlands); Lindhout, D. [Univ. Medical Centre Utrecht, Dept. of Medical Genetics, Utrecht (Netherlands)

    2002-07-01

    Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959, is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84 family members, performed a medical history, physical examination and made a radiological evaluation for defining a clinical and radiological phenotype of BHMED family members. We used blood samples for genetic analysis. Results: Although there is a clear clinical picture of the dysplasia, the radiological signs are more reliable for making the diagnosis. Especially the typical deformity of the hip and knee joint are diagnostic for BHMED. By linkage analysis we excluded linkage with the three known MED-loci (EDM1, EDM2 and EDM3). Conclusion: BHMED is indeed an entity that is distinct from common multiple epiphyseal dysplasia (MED), clinically, as well as radiologically and genetically. (orig.) [German] Ziel: Es sollte dargelegt werden, dass sich eine vererbliche, laterale Mikro-Epiphysendysplasie (BHMED), Erstbeschreibung durch Elsbach 1959, klinisch, radiologisch und genetisch von einer mutiplen Epiphysendysplasie (MED) unterscheidet. Material und Methode: Anhand der Daten eines ueberarbeiteten Stammbaumes mit 84 Familienmitgliedern wurde der medizinische Werdegang rekonstruiert. Es erfolgte eine physische Untersuchung der Familienmitglieder. Schliesslich wurde eine radiologische Auswertung durchgefuehrt, um einen klinischen und radiologischen Phaenotyp der von BHMED betroffenen Familienmitglieder zu definieren. Fuer eine genetische Analyse wurden Blutproben entnommen. Ergebnisse: Obwohl es ein deutliches klinisches Bild einer Dysplasie gibt, sind die radiologischen Kennzeichen fuer die Diagnose zuverlaessiger. Insbesondere die typische Deformation der Huefte und des Kniegelenks ist diagnostisch fuer BHMED. Durch Linkage-Analyse konnte eine Verbindung zu den drei bekannten

  13. MRI findings of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

    Iwasawa, T. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan); Aida, N. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Kanagawa Children`s Medical Center, Yokohama (Japan); Kobayashi, N. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Kanagawa Children`s Medical Center, Yokohama (Japan); Nishimura, G. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Dept. of Radiology, School of Medicine, Dokkyou Univ., Tochigi (Japan)

    1996-01-01

    We report a boy with dysplasia epiphysealis hemimelica of the knee, particularly emphasizing MRI findings. When he was 14 months of age, plain radiography exhibiting juxta-articular soft tissue mass with small, punctate, calcified foci did not warrant the definitive diagnosis, while MRI clearly demonstrated osteocartilaginous overgrowth of the femoral epiphysis. The epiphyseal mass mostly showed the same signal intensity as normal cartilage but contained low signal spots corresponding to calcified foci. The cartilaginous cap was depicted as a mottled area of high intensity on a T2-weighted image. When the patient was 4 years of age, this ossified mass was resected surgically and pathologically identified as osteochondroma incorporated into the epiphysis. (orig.)

  14. Ectodermal dysplasia-skin fragility syndrome

    Directory of Open Access Journals (Sweden)

    Vijay S Adhe

    2011-01-01

    Full Text Available Ectodermal dysplasia-skin fragility (EDSF syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a 2-year-old Indian male child who presented with palmoplantar hyperkeratosis with fissuring, short, sparse, and easily pluckable scalp hair, nail dystrophy, and multiple erosions over the skin. Skin biopsy showed epidermal hyperplasia with widening of intercellular spaces. His developmental milestones were delayed but intelligence was normal. Echocardiography, X-ray chest, and electrocardiogram were normal. Very few cases of this syndrome have been reported in the literature. We consider this as the first case report from India.

  15. Four cases of right ventricular dysplasia

    International Nuclear Information System (INIS)

    Takamura, Ichiro; Ando, Joji; Miyamoto, Atsushi; Kobayashi, Takeshi; Sakamoto, Sanya; Yasuda, Hisakazu

    1985-01-01

    Finding of 81 Kr right ventriculography and 201 Tl myocardial perfusion imaging in 4 patients with right ventricular dysplasia (RVD) were compared with those in 28 patients with dilated cardiomyopathy. Remarkably dilated right ventricle was detected on 201 Tl myocardial perfusion imaging in the RVD group. In a patient with RVD who died suddenly, perfusion defect of the left ventricular myocardium, a decreased right ventricular ejection fraction, and an increased right ventricular end diastolic volume were seen. Perfusion defect of the left ventricular myocardium was seen in 10 of the 28 patients with dilated cardiomyopathy, 4 of whom died suddenly. In these 4 patients, a decreased left ventricular ejection fraction and an increased right ventricular end diastolic volume were seen. These findings obtained by the radionuclide techniques suggested that there are differences in cardiac dysfunction of the both ventricles between the groups with RVD and dilated cardiomyopathy. (Namekawa, K.)

  16. Focal cemento-osseous dysplasia of mandible.

    Science.gov (United States)

    Cankaya, Abdülkadir Burak; Erdem, Mehmet Ali; Olgac, Vakur; Firat, Deniz Refia

    2012-09-03

    Fibro-osseous lesions are disturbances in bone metabolism in which normal bone is replaced by a connective tissue matrix that then gradually develops into cemento-osseous tissue. Typically, the lesion is asymptomatic and is detected on routine radiographic examination. Radiologically, this lesion has three stages of maturation: pure radiolucent, radiopaque/mixed radiolucent, and radiopaque appearance. During these stages the lesion can be misdiagnosed. In this case report a 69-year- old patient with a a complaint of painless swelling of the left mandibular molar and premolar area is presented along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.

  17. Nonfamilial cleidocranial dysplasia (dysostosis): a case report

    International Nuclear Information System (INIS)

    Salem, G

    1990-01-01

    Cleidocranial dysplasia, previously known as cleidocranial dysostosis, is a rare hereditary disease of unknown etiology characterized by abnormalities in the skull, jaws, shoulder girdle, as well as abnormalities of the dentition. The disease usually follows an autosomal dominant mode of transmission. This is a report on a case in a 25-year-old Saudi female from Gizan, Saudi Arabia, which seemes to be the first case reported in the Kingdom. An outstanding feature of this case is that it did not follow a familial pattern of inheritance since the patient is the only member of the family suffering from such disorder. The abnor malities present in the dentition are described together with the associated skeletal malformations. The clin ical and radiographic findings, as well as the hereditary pattern of the disease as described in the literature, are discussed. The dental management of these cases is reviewed. (author)

  18. Guidelines for genetic skeletal dysplasias for pediatricians

    Directory of Open Access Journals (Sweden)

    Sung Yoon Cho

    2015-12-01

    Full Text Available Skeletal dysplasia (SD is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understand SD better. In order to diagnose a SD accurately, clinical and radiographic findings should be evaluated in detail. In addition, genetic diagnosis of SD is important because there are so various SDs with complex phenotypes. To reach an exact diagnosis of SDs, cooperative approach by a clinician, a radiologist and a geneticist is important. This review aims to provide an outline of the diagnostic approach for children with disproportional short stature.

  19. Hypohidrotic ectodermal dysplasia: a multidisciplinary approach.

    Science.gov (United States)

    Bildik, Tezan; Ozbaran, Burcu; Kose, Sezen; Koturoglu, Guldane; Gokce, Bulent; Gunaydin, Asli; Altintas, Inci

    2012-01-01

    Hypohidrotic ectodermal dysplasia (HED; Christ-Siemens-Touraine syndrome) is a genetic disorder characterized by sparse hair, oligodontia with peg-shaped teeth, reduced sweating, and defects in a number of other ectodermal organs. A partial or complete absence of eccrine glands can lead to recurrent severe overheating that may cause seizures and neurological deficits. This clinical report presents a 14-year-old male patient with hypohidrotic ectodermal dysplasia, including the clinical and radiographic findings, and multidisciplinary treatment. The Schedule for Affective Disorders and Schizophrenia for School Aged Children-Present and Lifetime Version (K-SADS-PL) was administered to patient along with mother to assess for any psychiatric disorders. The screening and rating scales completed by mother and two teachers to evaluate the severity of attention deficit hyperactivity disorder (ADHD) symptoms, and other behavioral problems. Patient's academic performance, adaptive functioning, and problem behavior was evaluated using. The Teacher Report Form. Mental capacity was assessed with the Wechsler Intelligence Scale for Children (WISC-R). Illness Perception Questionnaire Revised was used to systematically assess illness representation attributes and emotional representations of illness. On the psychiatric diagnosis assessment using K-SADS-PL sub-threshold attention deficits and anxiety symptoms were determined. In this case we established a multidisciplinary approach in his treatment with pediatric, dermatological, and dental examinations, beside his psychiatric evaluation. The prosthetic rehabilitation included restoring upper teeth with copings and fabrication of upper and lower complete dentures. Metal framework was not incorporated in the partial denture design allowing modifications as the oral and maxillofacial development continued. Removable complete or partial dentures without metal framework is a treatment of choice until the completion of facial growth at

  20. Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome.

    Science.gov (United States)

    McElyea, Samantha D; Starbuck, John M; Tumbleson-Brink, Danika M; Harrington, Emily; Blazek, Joshua D; Ghoneima, Ahmed; Kula, Katherine; Roper, Randall J

    2016-11-15

    Trisomy 21 (Ts21) affects craniofacial precursors in individuals with Down syndrome (DS). The resultant craniofacial features in all individuals with Ts21 may significantly affect breathing, eating and speaking. Using mouse models of DS, we have traced the origin of DS-associated craniofacial abnormalities to deficiencies in neural crest cell (NCC) craniofacial precursors early in development. Hypothetically, three copies of Dyrk1a (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), a trisomic gene found in most humans with DS and mouse models of DS, may significantly affect craniofacial structure. We hypothesized that we could improve DS-related craniofacial abnormalities in mouse models using a Dyrk1a inhibitor or by normalizing Dyrk1a gene dosage. In vitro and in vivo treatment with Epigallocatechin-3-gallate (EGCG), a Dyrk1a inhibitor, modulated trisomic NCC deficiencies at embryonic time points. Furthermore, prenatal EGCG treatment normalized some craniofacial phenotypes, including cranial vault in adult Ts65Dn mice. Normalization of Dyrk1a copy number in an otherwise trisomic Ts65Dn mice normalized many dimensions of the cranial vault, but did not correct all craniofacial anatomy. These data underscore the complexity of the gene–phenotype relationship in trisomy and suggest that changes in Dyrk1a expression play an important role in morphogenesis and growth of the cranial vault. These results suggest that a temporally specific prenatal therapy may be an effective way to ameliorate some craniofacial anatomical changes associated with DS.