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Sample records for craniofacial fibrous dysplasia

  1. CT Imaging of Craniofacial Fibrous Dysplasia

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    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

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    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. Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion.

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    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.

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

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    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. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

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    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.

  6. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

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    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.

  7. Use of Zoledronic Acid in Paediatric Craniofacial Fibrous Dysplasia

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    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.

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

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    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.

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

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    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.

  10. Bone scintigraphy in polyostotic fibrous dysplasia

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

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    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)

  12. Fibrous dysplasia and cherubism

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    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

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

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    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.

  14. A case report of the fibrous dysplasia

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    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.

  15. A case report of the fibrous dysplasia

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    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.

  16. Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma

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    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.)

  17. Fibrous dysplasia of the femoral neck

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    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.)

  18. Bone markers in craniofacial bone deformations and dysplasias

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    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.

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

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    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).

  20. Fibrous dysplasia of bone

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    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

  1. Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma

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

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    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.

  3. Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

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    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.

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

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    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

  5. 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

  6. Chondrosarcoma occurring in a patient with polyostotic fibrous dysplasia

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    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.

  7. CT features of fibrous dysplasia of the temporal bone

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    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)

  8. Radiological analysis of polyostotic fibrous dysplasia in skeletal system

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    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.

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

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    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.

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

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    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

  11. Ehlers-Danlos syndrome with monostotic fibrous dysplasia

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    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.

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

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    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.

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

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    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.

  14. 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.)

  15. 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

  16. 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

  17. 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.

  18. 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.)

  19. 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.)

  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 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

  2. 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.

  3. 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.

  4. 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.)

  5. 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.

  6. 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

  7. 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.

  8. 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.

  9. 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.

  10. 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

  11. 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.

  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. 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.

  14. 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.

  15. 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.

  16. 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

  17. 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.

  18. 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.)

  19. 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.

  20. 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.)

  1. 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.

  2. 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.

  3. 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.

  4. 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...

  5. 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

  6. 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.

  7. 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 ...

  8. 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

  9. A case of atypical McCune-Albright syndrome requiring optic nerve decompression.

    Science.gov (United States)

    Yavuzer, R; Khilnani, R; Jackson, I T; Audet, B

    1999-10-01

    McCune-Albright syndrome (MAS) is a disease of noninheritable, genetic origin defined by the triad of café-au-lait pigmentation of the skin, precocious puberty, and polyostotic fibrous dysplasia. This syndrome, which affects young girls primarily, has also been reported with other endocrinopathies, and rarely with acromegaly and hyperprolactinemia. The fibrous dysplasia in MAS is of the polyostotic type and, apart from the characteristic sites such as the proximal aspects of the femur and the pelvis, the craniofacial region is frequently involved. A male patient with MAS presented with juvenile gigantism, precocious puberty, pituitary adenoma-secreting growth hormone and prolactin, hypothalamic pituitary gonadal and thyroid dysfunction, and polyostotic fibrous dysplasia causing optic nerve compression. Visual deterioration and its surgical management are presented.

  10. 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

  11. 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.

  12. 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.)

  13. 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

  14. 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

  15. 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.

  16. 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.)

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. 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...

  2. 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...

  3. 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.)

  4. 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

  5. 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

  6. 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

  7. 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)

  8. 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.

  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. 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.

  11. 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.

  12. 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.)

  13. 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.)

  14. 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.

  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. 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.

  17. 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, ...

  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. 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

  20. 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.

  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. [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.

  3. 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.

  4. 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.

  5. 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.

  6. [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.

  7. McCune Albright syndrome in association with excessive GH secretion: case report.

    Science.gov (United States)

    Özsu, Elif; Mutlu, Gül Yeşiltepe; Çizmecioğlu, Filiz Mine; Hatun, Şükrü

    2015-06-01

    McCune-Albright Syndrome is a rare syndrome characterized with excessive function of peripheral endocrine organs and activating mutations of the stimulatory G protein alpha subunit are involved in the pathogenesis. The three main findings of the disease include hyperpigmented café au lait spots, fibrous dysplasia and increased endocrine functions and excessive secretion of growth hormone is observed in 21% of the patients. Clinical signs may be missed in these patients because of precocious puberty and craniofacial fibrous dysplasia. Since radiotherapy causes to sarcomatous changes and transsphenoidal surgery may cause to severe thickening in the cranial bones, they are not appropriate treatment options and medical treatment is recommended. Bromocriptine, cabergoline and octreotide or different combinations of these drugs are used in treatment and pegvisomant has also been used in recent years. Here, we present a male patient aged 12 years and 7 months to show gigantism as a rare clinical reflection of McCune-Albright Syndrome with an excessive height (197 cm), café au lait spots, growht hormone levels which could not be supressed with oral glucose tolerance test and increased prolactin levels.

  8. 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.)

  9. 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.

  10. 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.

  11. 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...

  12. 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.

  13. 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

  14. 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 ...

  15. 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 ...

  16. 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.

  17. 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

  18. 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.

  19. 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)

  20. 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...

  1. 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)

  2. 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.

  3. 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

  4. 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.

  5. 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.)

  6. 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.

  7. 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.

  8. 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.

  9. 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)

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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

  15. 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

  16. 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.)

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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)

  2. 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.

  3. 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.

  4. 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 ...

  5. 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.

  6. 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.)

  7. 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.

  8. 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.

  9. Incomplete McCune-Albright Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Nagehan Aslan

    2014-08-01

    Full Text Available Fibrous dysplasia of bone is a genetic, non-inheritable disease that can cause bone pain, bone deformities and fracture. It has a large clinic spectrum from benign monostotic fibrous dysplasia to McCune-Albright syndrome. Rare McCune-Albright syndrome is characterized by precocious puberty, cafe au lait spots and fibrous dysplasia. Herein we presented a case who was preferred to hospital with pathological fractures and diagnosed with Incomplet McCune Albright syndrome because of the lack of endocrine hyperfunction and developed early puberty at clinical course.

  10. 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

  11. 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.

  12. 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.

  13. 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

  14. 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.

  15. 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.)

  16. 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.

  17. 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.

  18. 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.

  19. [Custom-made implant for complex facial reconstruction: A case of total replacement of temporo-mandibular joint, zygomatic arch and malar bone].

    Science.gov (United States)

    Guillier, D; Moris, V; See, L-A; Girodon, M; Wajszczak, B-L; Zwetyenga, N

    2017-02-01

    Total prosthetic replacement of the temporo-mandibular joint (TMJ) has become a common procedure, but it is usually limited to the TMJ itself. We report about one case of complex prosthetic joint reconstruction extending to the neighbouring bony structures. A 57-year-old patient, operated several times for a cranio-facial fibrous dysplasia, presented with a recurring TMJ ankylosis and a complexe latero-facial bone loss on the right side. We performed a reconstruction procedure including the TMJ, the zygomatic arch and the malar bone by mean of custom made composite prosthesis (chrome-cobalt-molybdenum-titanium and polyethylene). Five years postoperatively, mouth opening, nutrition, pain and oral hygiene were significantly improved. Nowadays technical possibilities allow for complex facial alloplastic reconstructions with good medium term results. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  20. 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.

  1. 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 ...

  2. 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.

  3. Fibro-osseous lesions of the face and jaws

    International Nuclear Information System (INIS)

    MacDonald-Jankowski, D.S.

    2004-01-01

    Maxillofacial fibro-osseous lesions (FOL) consists of lesions that differ, with the exception of fibrous dysplasia, to those found in the rest of the skeleton. FOLs of the face and jaws are cemento-ossifying dysplasia, fibrous dysplasia and cemento-ossifying fibroma. Radiology is central to their diagnosis because the pathology for all FOLs is similar, although they range widely in behaviour, from dysplasia, hamartoma to benign neoplasia with occasional recurrence. Furthermore, once diagnosed the management of each is different. For cemento-ossifying dysplasia, this may mean doing nothing, simply because no treatment is generally appropriate. Almost all cemento-ossifying fibromas should be treated surgically, whereas cases of fibrous dysplasia are treated according to their clinical presentation, ranging from review and follow-up to surgery necessary to save the patient's sight or reduce deformity. The most important and frequent features of the FOLs differential diagnosis is discussed with assistance of a flow-chart

  4. Fibro-osseous lesions of the face and jaws

    Energy Technology Data Exchange (ETDEWEB)

    MacDonald-Jankowski, D.S

    2004-01-01

    Maxillofacial fibro-osseous lesions (FOL) consists of lesions that differ, with the exception of fibrous dysplasia, to those found in the rest of the skeleton. FOLs of the face and jaws are cemento-ossifying dysplasia, fibrous dysplasia and cemento-ossifying fibroma. Radiology is central to their diagnosis because the pathology for all FOLs is similar, although they range widely in behaviour, from dysplasia, hamartoma to benign neoplasia with occasional recurrence. Furthermore, once diagnosed the management of each is different. For cemento-ossifying dysplasia, this may mean doing nothing, simply because no treatment is generally appropriate. Almost all cemento-ossifying fibromas should be treated surgically, whereas cases of fibrous dysplasia are treated according to their clinical presentation, ranging from review and follow-up to surgery necessary to save the patient's sight or reduce deformity. The most important and frequent features of the FOLs differential diagnosis is discussed with assistance of a flow-chart.

  5. 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 ...

  6. 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.

  7. 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.

  8. 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.

  9. 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.)

  10. 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.

  11. 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 ...

  12. 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.

  13. 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.

  14. 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.

  15. 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

  16. 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.

  17. 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

  18. 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.

  19. 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.

  20. 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...

  1. 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

  2. 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.)

  3. 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.

  4. 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.

  5. 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.

  6. 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

  7. 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.

  8. 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...

  9. 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.)

  10. 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.)

  11. 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.

  12. 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.

  13. 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

  14. 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

  15. 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...

  16. 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.)

  17. 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

  18. 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

  19. 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 ...

  20. 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.

  1. 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...

  2. 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...

  3. 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.

  4. 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.

  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. 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...

  7. 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.

  8. 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.)

  9. 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

  10. 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.

  11. 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 ...

  12. Three-Dimensional Bioprinting for Regenerative Dentistry and Craniofacial Tissue Engineering.

    Science.gov (United States)

    Obregon, F; Vaquette, C; Ivanovski, S; Hutmacher, D W; Bertassoni, L E

    2015-09-01

    Craniofacial tissues are organized with complex 3-dimensional (3D) architectures. Mimicking such 3D complexity and the multicellular interactions naturally occurring in craniofacial structures represents one of the greatest challenges in regenerative dentistry. Three-dimensional bioprinting of tissues and biological structures has been proposed as a promising alternative to address some of these key challenges. It enables precise manufacture of various biomaterials with complex 3D architectures, while being compatible with multiple cell sources and being customizable to patient-specific needs. This review describes different 3D bioprinting methods and summarizes how different classes of biomaterials (polymer hydrogels, ceramics, composites, and cell aggregates) may be used for 3D biomanufacturing of scaffolds, as well as craniofacial tissue analogs. While the fabrication of scaffolds upon which cells attach, migrate, and proliferate is already in use, printing of all the components that form a tissue (living cells and matrix materials together) to produce tissue constructs is still in its early stages. In summary, this review seeks to highlight some of the key advantages of 3D bioprinting technology for the regeneration of craniofacial structures. Additionally, it stimulates progress on the development of strategies that will promote the translation of craniofacial tissue engineering from the laboratory bench to the chair side. © International & American Associations for Dental Research 2015.

  13. 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.)

  14. 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.)

  15. 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 ...

  16. 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

  17. 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...

  18. 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.

  19. 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

  20. 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

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. [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.

  7. 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)

  8. 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.

  9. 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.

  10. Analysis of an In-Service Examination for Core Pediatric Craniofacial Surgery Knowledge.

    Science.gov (United States)

    Silvestre, Jason; Chang, Benjamin; Taylor, Jesse A

    2016-01-01

    Little is known about designing an effective residency curriculum for pediatric craniofacial surgery. This study elucidates the pediatric craniofacial curriculum of the Plastic Surgery In-Service Training Examination (PSITE) to facilitate knowledge acquisition during residency. Approximately, 6 consecutive PSITEs were reviewed for pediatric craniofacial questions (2010-2015). Subjects were categorized according to topics on the American Board of Plastic Surgery written board examination. Questions were categorized using an educational taxonomy model. Answer references were categorized by source and publication lag. Of 1174 PSITE questions, 147 tested pediatric craniofacial topics (12.5%). Questions appeared predominately in the Craniomaxillofacial section (83.0%, p < 0.001). The annual representation was stable more than 6 years (range: 10.2%-14.4%, p = 0.842). Question taxonomy favored interpretation (45.6%) and decision-making (40.8%) over recall (13.6%, p < 0.001) skills, and 41 questions had an associated image (27.9%) and most were photographic (76.7%, p < 0.001). The most frequently tested categories on the American Board of Plastic Surgery written examination content outline were craniofacial anomalies (23.5%), benign and malignant tumors (17.6%), and cleft lip and palate (12.5%). Overall, 80 unique journals were cited 304 times with a mean publication lag of 9.4 ± 10.9 years. Plastic and Reconstructive Surgery (34.5%) was the most cited journal (p < 0.001). These data may assist in designating core knowledge competency in pediatric craniofacial surgery for plastic surgery residents. A further understanding of PSITE utility for core knowledge competency in pediatric craniofacial surgery would be the focus of future work. Copyright © 2016 Association of Program Directors in Surgery. Published by Elsevier Inc. All rights reserved.

  11. Customized Polymethyl Methacrylate Implants for the Reconstruction of Craniofacial Osseous Defects

    Directory of Open Access Journals (Sweden)

    André Luis Fernandes da Silva

    2014-01-01

    Full Text Available Craniofacial defects represent alterations in the anatomy and morphology of the cranial vault and the facial bones that potentially affect an individual’s psychological and social well-being. Although a variety of techniques and restorative procedures have been described for the reconstruction of the affected area, polymethyl methacrylate (PMMA, a biocompatible and nondegradable acrylic resin-based implant, is the most widely used alloplastic material for such craniomaxillofacial reconstruction. The aim of this study was to describe a technique for aesthetic and functional preoperative customized reconstruction of craniofacial bone defects from a small series of patients offered by the Brazilian public health system. Three adult male patients attended consultation with chief complaints directly related to their individual craniofacial bone defects. With the aid of multislice computed tomography scans and subsequent fabrication of the three-dimensional craniofacial prototype, custom-made PMMA implants were fabricated preoperatively. Under general anesthesia, with access to the craniofacial defects with a coronal approach, the PMMA implants were adapted and fixated to the facial skeleton with titanium plates and screws. Postoperative evaluation demonstrated uneventful recovery and an excellent aesthetic result. Customized prefabricated PMMA implants manufactured over the rapid prototyping models proved to be effective and feasible.

  12. 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

  13. 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.)

  14. 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.)

  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. 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...

  17. 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.

  18. 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.

  19. 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

  20. 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

  1. The imaging findings of metastatic neuroblastoma in the craniofacial bone in children

    International Nuclear Information System (INIS)

    Bian Xin; Wang Zhenchang; Xian Junfang; Li Mei; Yan Fei; Chen Qinghua; Yang Bentao; Chang Qinglin; Tian Qichang; Liu Zhonglin

    2009-01-01

    Objective: To investigate the characteristic imaging findings of metastatic neuroblastoma in the craniofacial bone in children. Methods: Imaging findings in 12 patients with metastatic neuroblastoma in the craniofacial bone were analyzed retrospectively. Among them, 10 patients undenvent plain CT scan, 6 underwent MRI and 7 underwent whole body single-photon emission computed tomography bone scanning. Results: In the 10 patients with CT images, lytic bone destruction and soft tissue masses were found in 9 eases, in which periosteal reaction was observed in 8 patients with spiculated periosteal reaction in 3 patients. The remaining 1 patient didn't show any abnormalities on CT images but had abnormal findings in bone scanning. Six patients with MR images showed abnormal signal intensity in the bone marrow of the craniofacial bone and adjacent soft tissue masses. Postcontrast T 1 -weighted imaging in 5 patients demonstrated remarkable enhancement of the bone marrow and soft tissue masses. Bone scanning of 7 patients showed abnormal foci of increased radionuclide activity of the craniofacial bone in 7 patients and metastasis at other body parts in 6 patients. Conclusion: The metastatic neuroblastoma in the craniofacial bone has its characteristic imaging findings which are helpful for correct diagnosis. (authors)

  2. 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

  3. 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.

  4. The FaceBase Consortium: a comprehensive resource for craniofacial researchers

    Science.gov (United States)

    Brinkley, James F.; Fisher, Shannon; Harris, Matthew P.; Holmes, Greg; Hooper, Joan E.; Wang Jabs, Ethylin; Jones, Kenneth L.; Kesselman, Carl; Klein, Ophir D.; Maas, Richard L.; Marazita, Mary L.; Selleri, Licia; Spritz, Richard A.; van Bakel, Harm; Visel, Axel; Williams, Trevor J.; Wysocka, Joanna

    2016-01-01

    The FaceBase Consortium, funded by the National Institute of Dental and Craniofacial Research, National Institutes of Health, is designed to accelerate understanding of craniofacial developmental biology by generating comprehensive data resources to empower the research community, exploring high-throughput technology, fostering new scientific collaborations among researchers and human/computer interactions, facilitating hypothesis-driven research and translating science into improved health care to benefit patients. The resources generated by the FaceBase projects include a number of dynamic imaging modalities, genome-wide association studies, software tools for analyzing human facial abnormalities, detailed phenotyping, anatomical and molecular atlases, global and specific gene expression patterns, and transcriptional profiling over the course of embryonic and postnatal development in animal models and humans. The integrated data visualization tools, faceted search infrastructure, and curation provided by the FaceBase Hub offer flexible and intuitive ways to interact with these multidisciplinary data. In parallel, the datasets also offer unique opportunities for new collaborations and training for researchers coming into the field of craniofacial studies. Here, we highlight the focus of each spoke project and the integration of datasets contributed by the spokes to facilitate craniofacial research. PMID:27287806

  5. 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

  6. 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.

  7. 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...

  8. 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.

  9. 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...

  10. [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.

  11. 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

  12. 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.).

  13. 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)

  14. G-Protein α-Subunit Gsα Is Required for Craniofacial Morphogenesis.

    Directory of Open Access Journals (Sweden)

    Run Lei

    Full Text Available The heterotrimeric G protein subunit Gsα couples receptors to activate adenylyl cyclase and is required for the intracellular cAMP response and protein kinase A (PKA activation. Gsα is ubiquitously expressed in many cell types; however, the role of Gsα in neural crest cells (NCCs remains unclear. Here we report that NCCs-specific Gsα knockout mice die within hours after birth and exhibit dramatic craniofacial malformations, including hypoplastic maxilla and mandible, cleft palate and craniofacial skeleton defects. Histological and anatomical analysis reveal that the cleft palate in Gsα knockout mice is a secondary defect resulting from craniofacial skeleton deficiencies. In Gsα knockout mice, the morphologies of NCCs-derived cranial nerves are normal, but the development of dorsal root and sympathetic ganglia are impaired. Furthermore, loss of Gsα in NCCs does not affect cranial NCCs migration or cell proliferation, but significantly accelerate osteochondrogenic differentiation. Taken together, our study suggests that Gsα is required for neural crest cells-derived craniofacial development.

  15. 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

  16. Application of three-dimensional computed tomography in craniofacial clinical practice and research.

    Science.gov (United States)

    Anderson, P J; Yong, R; Surman, T L; Rajion, Z A; Ranjitkar, S

    2014-06-01

    Following the invention of the first computed tomography (CT) scanner in the early 1970s, many innovations in three-dimensional (3D) diagnostic imaging technology have occurred, leading to a wide range of applications in craniofacial clinical practice and research. Three-dimensional image analysis provides superior and more detailed information compared with conventional plain two-dimensional (2D) radiography, with the added benefit of 3D printing for preoperative treatment planning and regenerative therapy. Current state-of-the-art multidetector CT (MDCT), also known as medical CT, has an important role in the diagnosis and management of craniofacial injuries and pathology. Three-dimensional cone beam CT (CBCT), pioneered in the 1990s, is gaining increasing popularity in dental and craniofacial clinical practice because of its faster image acquisition at a lower radiation dose, but sound guidelines are needed to ensure its optimal clinical use. Recent innovations in micro-computed tomography (micro-CT) have revolutionized craniofacial biology research by enabling higher resolution scanning of teeth beyond the capabilities of MDCT and CBCT, presenting new prospects for translational clinical research. Even after four decades of refinement, CT technology continues to advance and broaden the horizons of craniofacial clinical practice and phenomics research. © 2014 Australian Dental Association.

  17. 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.)

  18. 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.

  19. Alignment of CT images of skull dysmorphology using anatomy-based perpendicular axes

    International Nuclear Information System (INIS)

    Yoo, Sun K; Kim, Yong O; Kim, Hee-Joung; Kim, Nam H; Jang, Young Beom; Kim, Kee-Deog; Lee, Hye-Yeon

    2003-01-01

    Rigid body registration of 3D CT scans, based on manual identification of homologous landmarks, is useful for the visual analysis of skull dysmorphology. In this paper, a robust and simple alignment method was proposed to allow for the comparison of skull morphologies, within and between individuals with craniofacial anomalies, based on 3D CT scans, and the minimum number of anatomical landmarks, under rigidity and uniqueness constraints. Three perpendicular axes, extracted from anatomical landmarks, define the absolute coordinate system, through a rigid body transformation, to align multiple CT images for different patients and acquisition times. The accuracy of the alignment method depends on the accuracy of the localized landmarks and target points. The numerical simulation generalizes the accuracy requirements of the alignment method. Experiments using a human dried skull specimen, and ten sets of skull CT images (the pre- and post-operative CT scans of four plagiocephaly, and one fibrous dysplasia patients), demonstrated the feasibility of the technique in clinical practice

  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. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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...

  7. La displasia cemento ósea florida y su diagnóstico diferencial The Florid cemento-bony dysplasia and the differential diagnosis

    Directory of Open Access Journals (Sweden)

    Allan Ulisses Carvalho de Melo

    2011-09-01

    Full Text Available Las lesiones benignas fibro-óseas de los maxilares constituyen un grupo diverso de enfermedades con una característica histológica común: la sustitución de hueso normal por tejido compuesto de colágeno y fibroblastos, con cantidades variables de una sustancia mineral que puede ser de hueso, cemento o ambos. Estas lesiones incluyen la displasia fibrosa, la displasia cemento-ósea en sus variantes: periapical, focal o florida, el cementoma gigantiforme familiar y el fibroma osificante cemento-osificante. La osteomielitis es un proceso inflamatorio agudo o crónico de los espacios medulares o corticales del hueso, que se extiende más allá del sitio inicial de desenvolvimiento. La osteomielitis esclerosante difusa es más frecuente en adultos, principalmente en la mandíbula. Se presenta radiográficamente como una lesión radiopaca difusa adyacente a los dientes, que puede ser multifocal. El objetivo de este trabajo fue describir un caso inusual de lesión fibro-ósea, cuyo diagnóstico diferencial se hizo también con la osteomielitis de los maxilares. Se concluyó que las lesiones fibro-óseas benignas, presentaron muchas similitudes con respecto a sus aspectos clínicos, radiográficos e histológicos. Por lo tanto, es fundamental el análisis conjunto de estas informaciones para obtener un diagnóstico definitivo.The benign fibrous-bony lesions are a diverse group of diseases with common features: replacement of normal bone by tissue composed of collagen and fibroblasts, with variable amounts of a mineral substance that could be bone, cement or both. These lesions include the fibrous dysplasia, the periapical cement-bony dysplasia, focal or florid, familiar giant cementoma and ossifying fibroma (cement-ossifying. Osteomyelitis is an acute or chronic inflammatory process of medullar or cortical spaces of bone extending beyond the onset site of development. Diffuse sclerosing osteomyelitis involves to adults mainly the mandible and

  8. 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.

  9. 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.

  10. A case report of cemento-ossifying fibroma presenting as a mass of the ethmoid sinus.

    Science.gov (United States)

    Hekmatnia, Ali; Ghazavi, Amirhossein; Saboori, Masih; Mahzouni, Parvin; Tayari, Nazila; Hekmatnia, Farzaneh

    2011-02-01

    Cemento-ossifying fibroma is a lesion containing both fibrous and osseous components. Such lesions include fibrous dysplasia, ossifying fibroma, cemento-ossifying fibroma and cementifying fibroma. Periodontal membrane is the origin of fibro-osseous lesions other than fibrous dysplasia.Here a clinical case of a young woman referred for evaluation of a mass in the right side of face between eye and nose is presented. The first time she noticed the mass was 2 years ago and was growing larger inwards. She was treated with surgical resection.In this case of a cemento-ossifying fibroma, histological interpretation was critical, and was the basis of correct treatment.

  11. 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.

  12. 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...

  13. The FaceBase Consortium: A comprehensive program to facilitate craniofacial research

    Science.gov (United States)

    Hochheiser, Harry; Aronow, Bruce J.; Artinger, Kristin; Beaty, Terri H.; Brinkley, James F.; Chai, Yang; Clouthier, David; Cunningham, Michael L.; Dixon, Michael; Donahue, Leah Rae; Fraser, Scott E.; Hallgrimsson, Benedikt; Iwata, Junichi; Klein, Ophir; Marazita, Mary L.; Murray, Jeffrey C.; Murray, Stephen; de Villena, Fernando Pardo-Manuel; Postlethwait, John; Potter, Steven; Shapiro, Linda; Spritz, Richard; Visel, Axel; Weinberg, Seth M.; Trainor, Paul A.

    2012-01-01

    The FaceBase Consortium consists of ten interlinked research and technology projects whose goal is to generate craniofacial research data and technology for use by the research community through a central data management and integrated bioinformatics hub. Funded by the National Institute of Dental and Craniofacial Research (NIDCR) and currently focused on studying the development of the middle region of the face, the Consortium will produce comprehensive datasets of global gene expression patterns, regulatory elements and sequencing; will generate anatomical and molecular atlases; will provide human normative facial data and other phenotypes; conduct follow up studies of a completed genome-wide association study; generate independent data on the genetics of craniofacial development, build repositories of animal models and of human samples and data for community access and analysis; and will develop software tools and animal models for analyzing and functionally testing and integrating these data. The FaceBase website (http://www.facebase.org) will serve as a web home for these efforts, providing interactive tools for exploring these datasets, together with discussion forums and other services to support and foster collaboration within the craniofacial research community. PMID:21458441

  14. 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.

  15. 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-

  16. 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 ...

  17. Fuz regulates craniofacial development through tissue specific responses to signaling factors.

    Directory of Open Access Journals (Sweden)

    Zichao Zhang

    Full Text Available The planar cell polarity effector gene Fuz regulates ciliogenesis and Fuz loss of function studies reveal an array of embryonic phenotypes. However, cilia defects can affect many signaling pathways and, in humans, cilia defects underlie several craniofacial anomalies. To address this, we analyzed the craniofacial phenotype and signaling responses of the Fuz(-/- mice. We demonstrate a unique role for Fuz in regulating both Hedgehog (Hh and Wnt/β-catenin signaling during craniofacial development. Fuz expression first appears in the dorsal tissues and later in ventral tissues and craniofacial regions during embryonic development coincident with cilia development. The Fuz(-/- mice exhibit severe craniofacial deformities including anophthalmia, agenesis of the tongue and incisors, a hypoplastic mandible, cleft palate, ossification/skeletal defects and hyperplastic malformed Meckel's cartilage. Hh signaling is down-regulated in the Fuz null mice, while canonical Wnt signaling is up-regulated revealing the antagonistic relationship of these two pathways. Meckel's cartilage is expanded in the Fuz(-/- mice due to increased cell proliferation associated with the up-regulation of Wnt canonical target genes and decreased non-canonical pathway genes. Interestingly, cilia development was decreased in the mandible mesenchyme of Fuz null mice, suggesting that cilia may antagonize Wnt signaling in this tissue. Furthermore, expression of Fuz decreased expression of Wnt pathway genes as well as a Wnt-dependent reporter. Finally, chromatin IP experiments demonstrate that β-catenin/TCF-binding directly regulates Fuz expression. These data demonstrate a new model for coordination of Hh and Wnt signaling and reveal a Fuz-dependent negative feedback loop controlling Wnt/β-catenin signaling.

  18. 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.

  19. 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

  20. 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

  1. 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.

  2. Novel two-step method to form silk fibroin fibrous hydrogel

    International Nuclear Information System (INIS)

    Ming, Jinfa; Li, Mengmeng; Han, Yuhui; Chen, Ying; Li, Han; Zuo, Baoqi; Pan, Fukui

    2016-01-01

    Hydrogels prepared by silk fibroin solution have been studied. However, mimicking the nanofibrous structures of extracellular matrix for fabricating biomaterials remains a challenge. Here, a novel two-step method was applied to prepare fibrous hydrogels using regenerated silk fibroin solution containing nanofibrils in a range of tens to hundreds of nanometers. When the gelation process of silk solution occurred, it showed a top-down type gel within 30 min. After gelation, silk fibroin fibrous hydrogels exhibited nanofiber network morphology with β-sheet structure. Moreover, the compressive stress and modulus of fibrous hydrogels were 31.9 ± 2.6 and 2.8 ± 0.8 kPa, respectively, which was formed using 2.0 wt.% concentration solutions. In addition, fibrous hydrogels supported BMSCs attachment and proliferation over 12 days. This study provides important insight in the in vitro processing of silk fibroin into useful new materials. - Highlights: • SF fibrous hydrogel was prepared by a novel two-step method. • SF solution containing nanofibrils in a range of tens to hundreds of nanometers was prepared. • Gelation process was top-down type gel with several minutes. • SF fibrous hydrogels exhibited nanofiber network morphology with β-sheet structure. • Fibrous hydrogels had higher compressive stresses superior to porous hydrogels.

  3. 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.)

  4. 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.

  5. 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.

  6. 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).

  7. 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.

  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. 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)

  10. 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.

  11. [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.

  12. Forecasting craniofacial growth in individuals with class III malocclusion by computational modelling.

    Science.gov (United States)

    Auconi, Pietro; Scazzocchio, Marco; Defraia, Efisio; McNamara, James A; Franchi, Lorenzo

    2014-04-01

    To develop a mathematical model that adequately represented the pattern of craniofacial growth in class III subject consistently, with the goal of using this information to make growth predictions that could be amenable to longitudinal verification and clinical use. A combination of computational techniques (i.e. Fuzzy clustering and Network analysis) was applied to cephalometric data derived from 429 untreated growing female patients with class III malocclusion to visualize craniofacial growth dynamics and correlations. Four age groups of subjects were examined individually: from 7 to 9 years of age, from 10 to 12 years, from 13 to 14 years, and from 15 to 17 years. The connections between pathway components of class III craniofacial growth can be visualized from Network profiles. Fuzzy clustering analysis was able to define further growth patterns and coherences of the traditionally reported dentoskeletal characteristics of this structural imbalance. Craniofacial growth can be visualized as a biological, space-constraint-based optimization process; the prediction of individual growth trajectories depends on the rate of membership to a specific 'winner' cluster, i.e. on a specific individual growth strategy. The reliability of the information thus gained was tested to forecast craniofacial growth of 28 untreated female class III subjects followed longitudinally. The combination of Fuzzy clustering and Network algorithms allowed the development of principles for combining multiple auxological cephalometric features into a joint global model and to predict the individual risk of the facial pattern imbalance during growth.

  13. 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...

  14. Ellis van Creveld2 is required for postnatal craniofacial bone development

    Science.gov (United States)

    Badri, Mohammed K.; Zhang, Honghao; Ohyama, Yoshio; Venkitapathi, Sundharamani; Kamiya, Nobuhiro; Takeda, Haruko; Ray, Manas; Scott, Greg; Tsuji, Takehito; Kunieda, Tetsuo; Mishina, Yuji; Mochida, Yoshiyuki

    2016-01-01

    Ellis-van Creveld (EvC) syndrome is a genetic disorder with mutations in either EVC or EVC2 gene. Previous case studies reported that EvC patients underwent orthodontic treatment, suggesting the presence of craniofacial bone phenotypes. To investigate whether a mutation in EVC2 gene causes a craniofacial bone phenotype, Evc2 knockout (KO) mice were generated and cephalometric analysis was performed. The heads of wild type (WT), heterozygous (Het) and homozygous Evc2 KO mice (1-, 3- and 6-week-old) were prepared and cephalometric analysis based on the selected reference points on lateral X-ray radiographs was performed. The linear and angular bone measurements were then calculated, compared between WT, Het and KO and statistically analyzed at each time point. Our data showed that length of craniofacial bones in KO was significantly lowered by ~20% to that of WT and Het, the growth of certain bones, including nasal bone, palatal length and premaxilla was more affected in KO, and the reduction in these bone length was more significantly enhanced at later postnatal time points (3 and 6 weeks) than early time point (1 week). Furthermore, bone-to-bone relationship to cranial base and cranial vault in KO was remarkably changed, i.e. cranial vault and nasal bone were depressed and premaxilla and mandible were developed in a more ventral direction. Our study was the first to show the cause-effect relationship between Evc2 deficiency and craniofacial defects in EvC syndrome, demonstrating that Evc2 is required for craniofacial bone development and its deficiency leads to specific facial bone growth defect. PMID:27090777

  15. Tumours and tumour-like conditions of the jaw seen in Zaria, Nigeria ...

    African Journals Online (AJOL)

    %) ameloblastomas; 33 (23.4%) fibrous dysplasia; 31 (22.0%) cemento-osseous dysplasia; 9 (6.4%) myxomas; 8 (5.7%) ameloblastic fibroma; and 3 (2.1%) adenomatoid odontogenic tumours; and 9 (6.4%) unclassified tumours. The benign ...

  16. 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.

  17. 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...

  18. Inheritance of craniofacial features in Colombian families with class III malocclusion

    Directory of Open Access Journals (Sweden)

    L Otero

    2010-02-01

    Full Text Available L Otero, L Quintero, D Champsaur, E SimancaPontificia Universidad Javeriana, Bogotá, ColombiaIntroduction: The inheritance of class III malocclusion has been well documented, but the inheritance of craniofacial structures in Colombian families with this malocclusion has been not yet reported.Patients and methods: The study sample of 25 families comprised 186 untreated orthodontic individuals from 8 to 60 years old. Pedigrees were drawn using Cyrillic software. Complete family histories for each proband were ascertained and the affection status of relatives was confirmed by lateral cephalograms and facial and dental photographs. Analysis of variance and odds ratio test for each parameter was performed to estimate inheritance from parents to offspring and to determine similar phenotypic features in relatives.Results: The analysis of the pedigrees suggests autosomal dominant inheritance. The craniofacial characteristics that showed more resemblance between parents and offspring were middle facial height, shorter anterior cranial base and mandibular prognathism. In contrast the protrusion of upper lip and maxillary retrusion were the phenotypic features that contributed to class III in the majority of families.Conclusion: Knowledge of the inheritance of craniofacial phenotypes in class III malocclusion will enable the design of new therapies to treat this malocclusion.Keywords: inheritance, craniofacial, phenotype, class III malocclusion

  19. Psychological impact of visible differences in patients with congenital craniofacial anomalies.

    Science.gov (United States)

    Singh, Varun Pratap; Moss, Timothy P

    2015-01-01

    Patients with craniofacial anomalies often have appearance concerns and related social anxiety which can affect their quality of life. This study assessed the psychological impact of facial and dental appearance in patients with craniofacial anomalies in comparison to a general population control group. The study involved 102 adult patients (51% male) with congenital craniofacial anomalies and 102 controls (49% male). Both groups completed the Nepali version of Derriford Appearance Scale (DAS) and the Psychological Impact of Dental Aesthetic Questionnaire (PIDAQ) in a clinical setting to assess appearance-related distress, avoidance, and anxiety. There was a significant difference between patients and controls on both PIDAQ (mean score for patients 33.25 ± 9.45 while for controls 27.52 ± 5.67, p experienced greater negative psychological impact of living with their appearance (PIDAQ) and more appearance-related distress (DAS) than controls. DAS scores were not associated with gender. There was no association of the place of residence (rural vs. urban) with PIDAQ or DAS59 scores. There is a significant psychological impact of altered facial and dental appearance in patients with craniofacial anomalies compared to controls. There was no effect of locality (rural/urban) on the psychological impact of facial and dental appearance in patients.

  20. Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.

    Science.gov (United States)

    Whaley, Katie; Winter, Jordan; Eyster, Kathleen M; Hansen, Keith A

    2012-04-01

    To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia. Case report. University medical center. A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea. History, physical examination, and ultrasound. Physical findings of these two syndromes. Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia. This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  1. [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.

  2. 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.

  3. 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.

  4. 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...

  5. Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature.

    Science.gov (United States)

    Biazzo, Alessio; Di Bernardo, Andrea; Parafioriti, Antonina; Confalonieri, Norberto

    2017-08-23

    Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas. McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis. The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event. We report the case of a 28-year-old girl with Mazabraud syndrome associated with McCune-Albright syndrome. Our literature review shows that in these patients there is a higher risk of malignant transformation of fibrous dysplasia into osteosarcoma, confirming previous reports. Conversely, no malignant transformation has been reported for myxomas in isolated Mazabraud syndrome or in the association with McCune-Albright syndrome. We conclude that these patients should be scheduled to a close and long-term follow-up.

  6. Clinico-radiological study of fibro-osseous lesions of the jaw

    International Nuclear Information System (INIS)

    Nah, Kyung Sik; Park, Tae Won

    1982-01-01

    Since the fibro-osseous lesion is not a specific diagnostic term, the author studied clinically and radiologically 44 cases which had been diagnosed as fibro-osseous lesion in SNUDH (1972-1981.12). The obtained results were as follows. 1. Clinico-radiologically, the cases of fibro-osseous lesions were divided into two groups. 2. The first group was fibrous dysplasia(21 cases). 3. The second group was tumors of periodontal ligament origin, including ossifying fibroma, cementifying fibroma and cemento-ossifying fibroma (23 cases). 4. In most cases the chief complaint was painless swelling of the jaw and the mean age of the fibrous dysplasia (24.6 yrs) was a little younger than that of the periodontal ligament origin lesions (29.2 yrs). 5. In fibrous dysplasia, maxilla was often involved and showed ground-glass of smoke pattern radiologically. 6. The tumors of periodontal ligament origin occurred more in female, mandible and radiologically showed varying amounts of radiopaque foci in well-circumscribed osteolytic lesion.

  7. 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.

  8. 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

  9. 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.)

  10. 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.

  11. Novel Ultrafine Fibrous Poly(tetrafluoroethylene Hollow Fiber Membrane Fabricated by Electrospinning

    Directory of Open Access Journals (Sweden)

    Qinglin Huang

    2018-04-01

    Full Text Available Novel poly(tetrafluoroethylene (PTFE hollow fiber membranes were successfully fabricated by electrospinning, with ultrafine fibrous PTFE membranes as separation layers, while a porous glassfiber braided tube served as the supporting matrix. During this process, PTFE/poly(vinylalcohol (PVA ultrafine fibrous membranes were electrospun while covering the porous glassfiber braided tube; then, the nascent PTFE/PVA hollow fiber membrane was obtained. In the following sintering process, the spinning carrier PVA decomposed; meanwhile, the ultrafine fibrous PTFE membrane shrank inward so as to further integrate with the supporting matrix. Therefore, the ultrafine fibrous PTFE membranes had excellent interface bonding strength with the supporting matrix. Moreover, the obtained ultrafine fibrous PTFE hollow fiber membrane exhibited superior performances in terms of strong hydrophobicity (CA > 140°, high porosity (>70%, and sharp pore size distribution. The comprehensive properties indicated that the ultrafine fibrous PTFE hollow fiber membranes could have potentially useful applications in membrane contactors (MC, especially membrane distillation (MD in harsh water environments.

  12. 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)

  13. 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.

  14. 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.

  15. 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.

  16. Murine craniofacial development requires Hdac3-mediated repression of Msx gene expression.

    Science.gov (United States)

    Singh, Nikhil; Gupta, Mudit; Trivedi, Chinmay M; Singh, Manvendra K; Li, Li; Epstein, Jonathan A

    2013-05-15

    Craniofacial development is characterized by reciprocal interactions between neural crest cells and neighboring cell populations of ectodermal, endodermal and mesodermal origin. Various genetic pathways play critical roles in coordinating the development of cranial structures by modulating the growth, survival and differentiation of neural crest cells. However, the regulation of these pathways, particularly at the epigenomic level, remains poorly understood. Using murine genetics, we show that neural crest cells exhibit a requirement for the class I histone deacetylase Hdac3 during craniofacial development. Mice in which Hdac3 has been conditionally deleted in neural crest demonstrate fully penetrant craniofacial abnormalities, including microcephaly, cleft secondary palate and dental hypoplasia. Consistent with these abnormalities, we observe dysregulation of cell cycle genes and increased apoptosis in neural crest structures in mutant embryos. Known regulators of cell cycle progression and apoptosis in neural crest, including Msx1, Msx2 and Bmp4, are upregulated in Hdac3-deficient cranial mesenchyme. These results suggest that Hdac3 serves as a critical regulator of craniofacial morphogenesis, in part by repressing core apoptotic pathways in cranial neural crest cells. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. 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

  18. Comparative histology of some craniofacial sutures and skull-base synchondroses in non-avian dinosaurs and their extant phylogenetic bracket.

    Science.gov (United States)

    Bailleul, Alida M; Horner, John R

    2016-08-01

    Sutures and synchondroses, the fibrous and cartilaginous articulations found in the skulls of vertebrates, have been studied for many biological applications at the morphological scale. However, little is known about these articulations at the microscopic scale in non-mammalian vertebrates, including extant archosaurs (birds and crocodilians). The major goals of this paper were to: (i) document the microstructure of some sutures and synchondroses through ontogeny in archosaurs; (ii) compare these microstructures with previously published sutural histology (i.e. that of mammals); and (iii) document how these articulations with different morphological degrees of closure (open or obliterated) appear histologically. This was performed with histological analyses of skulls of emus, American alligators, a fossil crocodilian and ornithischian dinosaurs (hadrosaurids, pachycephalosaurids and ceratopsids). Emus and mammals possess a sutural periosteum until sutural fusion, but it disappears rapidly during ontogeny in American alligators. This study identified seven types of sutural mineralized tissues in extant and extinct archosaurs and grouped them into four categories: periosteal tissues; acellular tissues; fibrous tissues; and intratendinous tissues. Due to the presence of a periosteum in their sutures, emus and mammals possess periosteal tissues at their sutural borders. The mineralized sutural tissues of crocodilians and ornithischian dinosaurs are more variable and can also develop via a form of necrosis for acellular tissues and metaplasia for fibrous and intratendinous tissues. It was hypothesized that non-avian dinosaurs, like the American alligator, lacked a sutural periosteum and that their primary mode of ossification involved the direct mineralization of craniofacial sutures (instead of intramembranous ossification found in mammals and birds). However, we keep in mind that a bird-like sutural microstructure might have arisen within non-avian saurichians. While

  19. Evaluation of polyacrylonitrile electrospun nano-fibrous mats as leukocyte removal filter media.

    Science.gov (United States)

    Pourbaghi, Raha; Zarrebini, Mohammad; Semnani, Dariush; Pourazar, Abbasali; Akbari, Nahid; Shamsfar, Reihaneh

    2017-09-13

    Removal of leukocytes from blood products is the most effective means for elimination of undesirable side effects and prevention of possible reactions in recipients. Micro-fibrous mats are currently used for removal of leukocytes from blood. In this study, samples of electrospun nano-fibrous mats were produced. The performance of the produced electrospun nano-fibrous mats as means of leukocytes removal from fresh whole blood was both evaluated and compared with that of commercially available micro-fibrous mats. In order to produce the samples, polyacrylonitrile (PAN) nano-fibrous mats were made under different electrospinning conditions. Mean fiber diameter, pore characterization and surface roughness of the PAN nano-fibrous mats were determined using image processing technique. In order to evaluate the surface tension of the fabricated mats, water contact angle was measured. The leukocyte removal performance, erythrocytes recovery percent and hemolysis rate of the nano-fibrous mats were compared. The effectiveness of nano-fibrous mats in removing leukocyte was established using both scanning electron microscope and optical microscope. Results showed that for given weight, the fabricated nano-fibrous mats were not only more efficient but also more cost-effective than their commercial counterparts. Results confirmed that changes in mean fiber diameter, the number of layer and weight of each layer in the absence of any chemical reaction or physical surface modification, the fabricated nano-fibrous mats were able to remove 5-log of leukocytes. © 2017 Wiley Periodicals, Inc. J Biomed Mater Res Part B: Appl Biomater, 2017. © 2017 Wiley Periodicals, Inc.

  20. 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.

  1. 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.

  2. 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.

  3. Clinical Application of Three-Dimensional Printing Technology in Craniofacial Plastic Surgery

    Science.gov (United States)

    Kim, Namkug

    2015-01-01

    Three-dimensional (3D) printing has been particularly widely adopted in medical fields. Application of the 3D printing technique has even been extended to bio-cell printing for 3D tissue/organ development, the creation of scaffolds for tissue engineering, and actual clinical application for various medical parts. Of various medical fields, craniofacial plastic surgery is one of areas that pioneered the use of the 3D printing concept. Rapid prototype technology was introduced in the 1990s to medicine via computer-aided design, computer-aided manufacturing. To investigate the current status of 3D printing technology and its clinical application, a systematic review of the literature was conducted. In addition, the benefits and possibilities of the clinical application of 3D printing in craniofacial surgery are reviewed, based on personal experiences with more than 500 craniofacial cases conducted using 3D printing tactile prototype models. PMID:26015880

  4. Three-dimensional analysis of craniofacial bones using three-dimensional computer tomography

    Energy Technology Data Exchange (ETDEWEB)

    Ono, Ichiro; Ohura, Takehiko; Kimura, Chu (Hokkaido Univ., Sapporo (Japan). School of Medicine) (and others)

    1989-08-01

    Three-dimensional computer tomography (3DCT) was performed in patients with various diseases to visualize stereoscopically the deformity of the craniofacial bones. The data obtained were analyzed by the 3DCT analyzing system. A new coordinate system was established using the median sagittal plane of the face (a plane passing through sella, nasion and basion) on the three-dimensional image. Three-dimensional profilograms were prepared for detailed analysis of the deformation of craniofacial bones for cleft lip and palate, mandibular prognathia and hemifacial microsomia. For patients, asymmetry in the frontal view and twist-formed complicated deformities were observed, as well as deformity of profiles in the anteroposterior and up-and-down directions. A newly developed technique allows three-dimensional visualization of changes in craniofacial deformity. It would aid in determining surgical strategy, including crani-facial surgery and maxillo-facial surgery, and in evaluating surgical outcome. (N.K.).

  5. Clinical Application of Three-Dimensional Printing Technology in Craniofacial Plastic Surgery

    Directory of Open Access Journals (Sweden)

    Jong Woo Choi

    2015-05-01

    Full Text Available Three-dimensional (3D printing has been particularly widely adopted in medical fields. Application of the 3D printing technique has even been extended to bio-cell printing for 3D tissue/organ development, the creation of scaffolds for tissue engineering, and actual clinical application for various medical parts. Of various medical fields, craniofacial plastic surgery is one of areas that pioneered the use of the 3D printing concept. Rapid prototype technology was introduced in the 1990s to medicine via computer-aided design, computer-aided manufacturing. To investigate the current status of 3D printing technology and its clinical application, a systematic review of the literature was conducted. In addition, the benefits and possibilities of the clinical application of 3D printing in craniofacial surgery are reviewed, based on personal experiences with more than 500 craniofacial cases conducted using 3D printing tactile prototype models.

  6. Three-dimensional analysis of craniofacial bones using three-dimensional computer tomography

    International Nuclear Information System (INIS)

    Ono, Ichiro; Ohura, Takehiko; Kimura, Chu

    1989-01-01

    Three-dimensional computer tomography (3DCT) was performed in patients with various diseases to visualize stereoscopically the deformity of the craniofacial bones. The data obtained were analyzed by the 3DCT analyzing system. A new coordinate system was established using the median sagittal plane of the face (a plane passing through sella, nasion and basion) on the three-dimensional image. Three-dimensional profilograms were prepared for detailed analysis of the deformation of craniofacial bones for cleft lip and palate, mandibular prognathia and hemifacial microsomia. For patients, asymmetry in the frontal view and twist-formed complicated deformities were observed, as well as deformity of profiles in the anteroposterior and up-and-down directions. A newly developed technique allows three-dimensional visualization of changes in craniofacial deformity. It would aid in determining surgical strategy, including crani-facial surgery and maxillo-facial surgery, and in evaluating surgical outcome. (N.K.)

  7. Flood, disaster, and turmoil: social issues in cleft and craniofacial care and crisis relief.

    Science.gov (United States)

    Strauss, Ronald P; van Aalst, John A; Fox, Lynn; Stein, Margot; Moses, Michael; Cassell, Cynthia H

    2011-11-01

    To examine social issues in the conduct of cleft and craniofacial care through relief programs in disrupted crisis contexts. Social, health policy, and ethical analyses. At best, craniofacial team care is multidisciplinary, coordinated, and sustained, requiring a long-term relationship between team members, patients, and families. Disasters and societal turmoil interrupt such relationships, causing craniofacial care to become a secondary concern. Providing craniofacial team care in a crisis setting requires rebuilding disrupted coordination and communication. Crisis relief care involves a complex set of expectations and responsibilities and raises issues such as (1) quality assurance, infection control, appropriate standards of care, and follow-up care/continuity; (2) equity of access to services and clinical ethics in the context of war and/or deprivation; (3) training of visitors in the local nation or site; (4) disciplinary composition of teams, interprofessional communication/rivalry, and credentials of clinicians; (5) ownership of the site and local visitor relations; (6) fundraising and marketing strategies; and (7) ethical issues in the doctor-patient relationship. Specific ethical standards for international cleft and craniofacial care delivery also apply to domestic and global crisis relief contexts. Guidance on issues related to professional experience, informed consent, and continuity of care will help care providers address social and ethical issues raised in crisis relief programs. This paper proposes that the Position Paper of the American Cleft Palate-Craniofacial Association (ACPA) on International Treatment Programs should be used as a template to develop and disseminate a set of standards that apply to crisis relief.

  8. 3D-Printing Technologies for Craniofacial Rehabilitation, Reconstruction, and Regeneration.

    Science.gov (United States)

    Nyberg, Ethan L; Farris, Ashley L; Hung, Ben P; Dias, Miguel; Garcia, Juan R; Dorafshar, Amir H; Grayson, Warren L

    2017-01-01

    The treatment of craniofacial defects can present many challenges due to the variety of tissue-specific requirements and the complexity of anatomical structures in that region. 3D-printing technologies provide clinicians, engineers and scientists with the ability to create patient-specific solutions for craniofacial defects. Currently, there are three key strategies that utilize these technologies to restore both appearance and function to patients: rehabilitation, reconstruction and regeneration. In rehabilitation, 3D-printing can be used to create prostheses to replace or cover damaged tissues. Reconstruction, through plastic surgery, can also leverage 3D-printing technologies to create custom cutting guides, fixation devices, practice models and implanted medical devices to improve patient outcomes. Regeneration of tissue attempts to replace defects with biological materials. 3D-printing can be used to create either scaffolds or living, cellular constructs to signal tissue-forming cells to regenerate defect regions. By integrating these three approaches, 3D-printing technologies afford the opportunity to develop personalized treatment plans and design-driven manufacturing solutions to improve aesthetic and functional outcomes for patients with craniofacial defects.

  9. The influence of craniofacial to standing height proportion on perceived attractiveness.

    Science.gov (United States)

    Naini, F B; Cobourne, M T; McDonald, F; Donaldson, A N A

    2008-10-01

    An idealised male image, based on Vitruvian Man, was created. The craniofacial height was altered from a proportion of 1/6 to 1/10 of standing height, creating 10 images shown in random order to 89 observers (74 lay people; 15 clinicians), who ranked the images from the most to the least attractive. The main outcome was the preference ranks of image attractiveness given by the observers. Linear regressions were used to assess what influences the choice for the most and the least attractive images, followed by a multivariate rank ordinal logistic regression to test the influence of age, gender, ethnicity and professional status of the observer. A craniofacial height to standing height proportion of 1/7.5 was perceived as the most attractive (36%), followed by a proportion of 1/8 (26%). The images chosen as most attractive by more than 10% of observers had a mean proportion of 1/7.8(min=1/7; max=1/8.5). The images perceived as most unattractive had a proportion of 1/6 and 1/10. The choice of images was not influenced by the age, gender, ethnicity or professional status of the observers. The ideal craniofacial height to standing height proportion is in the range 1/7 to 1/8.5. This finding should be considered when planning treatment to alter craniofacial or facial height.

  10. 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 ...

  11. 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.

  12. Anomalies of tooth formation in hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

    Lexner, Michala O; Bardow, Allan; Hertz, Jens Michael

    2007-01-01

    OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the fi......OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study...... affected males had multiple missing permanent teeth and tooth malformations. The heterozygous females had a significantly higher frequency of agenesis of permanent teeth compared to normative data. The heterozygous females had an increased prevalence of tooth malformations and reduced tooth size...

  13. 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.

  14. The scapula as a window to the diagnosis of skeletal dysplasias

    International Nuclear Information System (INIS)

    Mortier, G.R.; Rimoin, D.L.; Lachman, R.S.

    1997-01-01

    Evaluation of the scapula can be useful in the diagnosis of skeletal dysplasias and helpful for the classification and delineation of new entities. A review of 2100 computerized cases of skeletal dysplasias in the International Skeletal Dysplasia Registry was performed. We found that the Luton type of platyspondylic lethal skeletal dysplasia differed radiographically from the San Diego type and Torrance type by the presence of two spikes at the inferior angle of the scapula. Hypoplasia of the body of the scapula, which is characteristic for campomelic dysplasia but not for kyphomelic dysplasia, is also present in Antley-Bixler syndrome. Radiographic and clinical similarities between campomelic dysplasia and Antley-Bixler syndrome suggest that they might be related disorders and that the latter condition should be included in the bent-bone dysplasia group. Similarity between the metaphyseal regions of the scapula and the metaphyses of the long tubular bones in the different types of short-rib polydactyly syndrome illustrates the importance of evaluation of the scapula in this group as well as in other well-defined or unknown osteochondrodysplasias. (orig.). With 8 figs

  15. Obstructive sleep apnea prevents the expected difference in craniofacial growth of boys and girls

    Directory of Open Access Journals (Sweden)

    Maria Ligia Juliano

    2013-01-01

    Full Text Available OBJECTIVES: It was to compare cephalometric measures of mouth-breather boys and girls and with the cephalometric pattern observed in obstructive sleep apnea syndrome (OSAS patients. METHODS: Craniofacial measurements of lateral cephalometric radiographs obtained from 144 children aged 7-14 years were compared between boys and girls, and both were compared to cephalometric pattern of OSAS patients. RESULTS: Mouth-breather boys and girls had no gender differences regarding to craniofacial morphology while nose-breather boys and girls showed those expected differences. Nose-breather boys presented a more retruded mandible and proinclined upper incisor when compared to nose-breather girls, but mouth-breather boys and girls had no differences. The measure NS.GoGn was the only variable with an interaction with gender and breathing. CONCLUSIONS: There were no cephalometric difference in mouth breather-boys and girls related to normal growth, suggesting that oral breathing make the same craniofacial morphology and both have craniofacial morphology close to that of OSAS patients.

  16. 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.

  17. 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.

  18. 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.

  19. Exploring the Medical and Psychosocial Concerns of Adolescents and Young Adults With Craniofacial Microsomia: A Qualitative Study.

    Science.gov (United States)

    Hamilton, Kayla V; Ormond, Kelly E; Moscarello, Tia; Bruce, Janine S; Bereknyei Merrell, Sylvia; Chang, Kay W; Bernstein, Jonathan A

    2018-01-01

    This study explores the experiences of adolescents and young adults with craniofacial microsomia, including the impact of growing up with this craniofacial condition on daily life and sense of self. The results may guide future research on optimally supporting individuals with craniofacial microsomia during this critical life phase. Participants were recruited through a craniofacial center, online patient support groups, and social media sites. Eleven individual semistructured interviews with participants between 12 and 22 years old were conducted by a single interviewer, transcribed, iteratively coded, and thematically analyzed. Five themes were evident in the data: (1) impact on personal growth and character development, (2) negative psychosocial impact, (3) deciding to hide or reveal the condition, (4) desire to make personal surgical decisions, and (5) struggles with hearing loss. We identified both medical and psychosocial concerns prevalent among adolescents with craniofacial microsomia. Although adolescents with craniofacial microsomia exhibit considerable resilience, the challenges they face impact their sense of self and should be addressed through psychosocial support and counseling. Further research should investigate the potential benefit of the wider use of hearing aids, as well as the involvement of patients in decision-making about reconstructive ear surgery.

  20. Fibrous scar in the infrapatellar fat pad after arthroscopy. MR imaging

    International Nuclear Information System (INIS)

    Tang, Guangyu; Niitsu, Mamoru; Ikeda, Kotaro; Itai, Yuji; Endo, Hideho

    2000-01-01

    We describe the MR appearance of fibrous scars in the infrapatellar fat pad after arthroscopy. The subjects were 96 patients who underwent arthroscope-assisted anterior cruciate ligament (ACL) reconstruction and were examined by oblique sagittal MR imaging at different follow-up intervals. Two observers evaluated the characteristics of the fibrous scars in the infrapatellar fat pad. All fibrous scars with low signal intensity were accentuated at the portal and coursed horizontally through the infrapatellar fat pad. The fibrous scar within the fat pad occurred and peaked within 6 months after arthroscopy. It then subsided gradually and had disappeared by one year later in nearly half of the patients. Identifying MR imaging characteristics of fibrous scars in the fat pad after arthroscopy may be clinically helpful to differentiate these scars from other abnormalities that involve the infrapatellar fat pad. (author)

  1. Fibrous scar in the infrapatellar fat pad after arthroscopy. MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Tang, Guangyu; Niitsu, Mamoru; Ikeda, Kotaro; Itai, Yuji [Tsukuba Univ., Ibaraki (Japan). Inst. of Clinical Medicine; Endo, Hideho

    2000-02-01

    We describe the MR appearance of fibrous scars in the infrapatellar fat pad after arthroscopy. The subjects were 96 patients who underwent arthroscope-assisted anterior cruciate ligament (ACL) reconstruction and were examined by oblique sagittal MR imaging at different follow-up intervals. Two observers evaluated the characteristics of the fibrous scars in the infrapatellar fat pad. All fibrous scars with low signal intensity were accentuated at the portal and coursed horizontally through the infrapatellar fat pad. The fibrous scar within the fat pad occurred and peaked within 6 months after arthroscopy. It then subsided gradually and had disappeared by one year later in nearly half of the patients. Identifying MR imaging characteristics of fibrous scars in the fat pad after arthroscopy may be clinically helpful to differentiate these scars from other abnormalities that involve the infrapatellar fat pad. (author)

  2. Proliferative, reparative, and reactive benign bone lesions that may be confused diagnostically with true osseous neoplasms.

    LENUS (Irish Health Repository)

    Wick, Mark R

    2014-01-01

    Diagnostic problems attending intraosseous and parosteal pseudoneoplastic lesions can be radiographic, or histological, or both. Proliferations in this category may contain cellular fibro-osseous or chondro-osseous tissues that are difficult to separate microscopically from those seen in various true neoplasms of the bones. This review considers the clinicopathologic features of fibrous dysplasia, benign fibro-osseous lesions of the jawbones, osteofibrous dysplasia, metaphyseal fibrous defect, giant-cell reparative granuloma, "brown tumor" of hyperparathyroidism, synovial chondrometaplasia, aneurysmal bone cyst, tumefactive chronic osteomyelitis, proliferative Paget disease, and polyvinylpyrrolidone storage disease of bone.

  3. 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....

  4. 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 ...

  5. The association between cervical dysplasia, a short cervix, and preterm birth.

    Science.gov (United States)

    Miller, Emily S; Sakowicz, Allie; Grobman, William A

    2015-10-01

    We sought to determine whether cervical dysplasia in the absence of an excisional procedure is associated with an increased risk of preterm birth (PTB) and whether that risk is independent of the presence of a short cervix. This is a cohort study including women with a singleton pregnancy who underwent routine cervical length assessment between 18-23 6/7 weeks of gestation, stratified by cervical dysplasia (ie, no prior dysplasia, prior dysplasia but no excisional procedure, or prior excisional procedure). The frequency of a short cervix (≤2.5 cm) and PTB were compared between groups and multivariable analyses were performed to identify whether: (1) dysplasia alone or a prior excisional procedure was associated with PTB; and (2) whether these factors remained independently associated with PTB after adjusting for the presence of a short cervix. Of the 18,528 women who met inclusion criteria, 3023 (16.3%) had prior dysplasia alone and 1356 (7.3%) had a prior excisional procedure. The frequency of a short cervix for women without dysplasia, with prior dysplasia alone, or with a prior excisional procedure was 0.8%, 1.0%, and 2.2%, respectively (P cervix. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. The association between gender and familial prevalence of hip dysplasia in Danish patients

    DEFF Research Database (Denmark)

    El Jashi, Rima; Gustafson, Maria B; Jakobsen, Mette B

    2017-01-01

    BACKGROUND: The development of hip dysplasia is associated with several risk factors. 1 of these risk factors is gender, since 80% of patients with symptomatic hip dysplasia are females. Another risk factor for hip dysplasia is familial predisposition of hip dysplasia. Several studies indicate...... that the risk of hip dysplasia is increased with familial prevalence of hip dysplasia. However, little is known about the association between the familial prevalence and gender and the development of hip dysplasia. PURPOSE: The aim of the study was to estimate the prevalence of hip dysplasia among relatives...... to Danish patients with hip dysplasia operated with periacetabular osteotomy (PAO), and the degree of relationship of affected family members. Furthermore, to assess the association between gender and family predisposition in the same group of patients. METHOD: The study is a cross-sectional study...

  7. Secondary influences and ectopic causes of canine hip dysplasia. Critical constructive thoughts to hip dysplasia diagnostics and to current breeding strategies

    International Nuclear Information System (INIS)

    Schawalder, P.; Spreng, D.; Dietschi, E.; Dolf, G.; Gaillard, C.

    1996-01-01

    This article questions the stagnation of breeding results by hip dysplasia screening and its current etiology. The ''Coxa Valga Antetorta'', anteversion of the hip joint and ''soft tissue displasia'' are discussed besides a multitude of primary diseases leading to growth deformities and other diseases in the hip. Ectopic primary causes like malformation of the spine leading to a secondary ''dysplatic'' osteoarthritis of the hip (functional secondary dysplasia) are also discussed in this article. Recent and very promising breeding strategies (estimation of the breeding value) in the battle against hip dysplasia are presented. Biochemical, immunological and structural aspects are presented as a not totally utopic perspecitive. Molecular genetic markers for hip dysplasia will offer in the near future a possibility to detect carriers ct the disease by a blood sample ion before clinical manifestation

  8. Craniofacial morphology and sleep apnea in children with obstructed upper airways: differences between genders.

    Science.gov (United States)

    Di Francesco, Renata; Monteiro, Roberta; Paulo, Maria Luiza de Melo; Buranello, Fernando; Imamura, Rui

    2012-06-01

    To correlate sleep apnea with craniofacial characteristics and facial patterns according to gender. In this prospective survey we studied 77 male and female children (3-12 years old) with an upper airway obstruction due to tonsil and adenoid enlargement. Children with lung problems, neurological disorders and syndromes, obstructive septal deviation, previous orthodontic treatment, orthodontic surgeries or oral surgeries, or obesity were excluded. Patients were subjected to physical examinations, nasal fiberoptic endoscopy, teleradiography for cephalometric analysis, and polysomnography. Cephalometric analysis included the following skeletal craniofacial measurements: facial axis (FA), facial depth (FD), mandibular plane angle (MP), lower facial height (LFH), mandibular arch (MA), and vertical growth coefficient (VERT) index. The prevalence of sleep apnea was 46.75% with no statistical difference between genders. Among children with obstructive sleep apnea (Apneia Hypopnea Index - AHI ≥ 1) boys had higher AHI values than girls. A predominance of the dolichofacial pattern (81.9%) was observed. The following skeletal craniofacial measurements correlated with AHI in boys: FD (r(s)=-0.336/p=0.020), MP (r(s)=0.486/p=0.00), and VERT index (r(s)=-0.337/p=0.019). No correlations between craniofacial measurements and AHI were identified in girls. Craniofacial morphology may influence the severity of sleep apnea in boys but not in girls. Copyright © 2012 Elsevier B.V. All rights reserved.

  9. 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.

  10. 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). ...

  11. 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.

  12. 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.

  13. Applications of Mesenchymal Stem Cells and Neural Crest Cells in Craniofacial Skeletal Research

    Directory of Open Access Journals (Sweden)

    Satoru Morikawa

    2016-01-01

    Full Text Available Craniofacial skeletal tissues are composed of tooth and bone, together with nerves and blood vessels. This composite material is mainly derived from neural crest cells (NCCs. The neural crest is transient embryonic tissue present during neural tube formation whose cells have high potential for migration and differentiation. Thus, NCCs are promising candidates for craniofacial tissue regeneration; however, the clinical application of NCCs is hindered by their limited accessibility. In contrast, mesenchymal stem cells (MSCs are easily accessible in adults, have similar potential for self-renewal, and can differentiate into skeletal tissues, including bones and cartilage. Therefore, MSCs may represent good sources of stem cells for clinical use. MSCs are classically identified under adherent culture conditions, leading to contamination with other cell lineages. Previous studies have identified mouse- and human-specific MSC subsets using cell surface markers. Additionally, some studies have shown that a subset of MSCs is closely related to neural crest derivatives and endothelial cells. These MSCs may be promising candidates for regeneration of craniofacial tissues from the perspective of developmental fate. Here, we review the fundamental biology of MSCs in craniofacial research.

  14. Papillary bile duct dysplasia in primary sclerosing cholangitis.

    Science.gov (United States)

    Ludwig, J; Wahlstrom, H E; Batts, K P; Wiesner, R H

    1992-06-01

    A 62-year-old man with a 20-year history of chronic ulcerative colitis and a 9-year history of primary sclerosing cholangitis (PSC) underwent orthotopic liver transplantation because of symptoms related to PSC and cholangiographic features compatible with a biliary neoplasm. Study of the excised liver revealed papillary mucosal lesions in the common hepatic duct and the right and left hepatic ducts as well as cholangiectases and other features typically associated with PSC. The papillary lesions consisted of abundant fibrovascular stroma covered by biliary epithelium with low-grade and high-grade dysplasia. Some periductal glands were also dysplastic. These features distinguished papillary dysplasia from classic biliary papillomatosis. Only one focus of microinvasion was found; there were no metastases. Among 60 cases of PSC in whom the entire liver could be studied after orthotopic liver transplantation, this was the only instance of unequivocal dysplasia. However, in one specimen, papillary hyperplasia was found. Detailed macroscopic and microscopic rereview of 23 livers from our patients with the longest history of PSC (range, 5-24 years) failed to reveal any additional cases with dysplasia. It is concluded that (a) papillary mucosal lesions in PSC may represent papillary dysplasia without invasion; (b) these lesions may evolve from papillary hyperplasia; (c) the process may be largely, if not entirely, in situ; and (d) the prevalence of dysplasia and carcinoma of bile ducts may be less than the 7%-9% reported in the literature for malignancies associated with PSC.

  15. 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.

  16. Computer vision and soft computing for automatic skull-face overlay in craniofacial superimposition.

    Science.gov (United States)

    Campomanes-Álvarez, B Rosario; Ibáñez, O; Navarro, F; Alemán, I; Botella, M; Damas, S; Cordón, O

    2014-12-01

    Craniofacial superimposition can provide evidence to support that some human skeletal remains belong or not to a missing person. It involves the process of overlaying a skull with a number of ante mortem images of an individual and the analysis of their morphological correspondence. Within the craniofacial superimposition process, the skull-face overlay stage just focuses on achieving the best possible overlay of the skull and a single ante mortem image of the suspect. Although craniofacial superimposition has been in use for over a century, skull-face overlay is still applied by means of a trial-and-error approach without an automatic method. Practitioners finish the process once they consider that a good enough overlay has been attained. Hence, skull-face overlay is a very challenging, subjective, error prone, and time consuming part of the whole process. Though the numerical assessment of the method quality has not been achieved yet, computer vision and soft computing arise as powerful tools to automate it, dramatically reducing the time taken by the expert and obtaining an unbiased overlay result. In this manuscript, we justify and analyze the use of these techniques to properly model the skull-face overlay problem. We also present the automatic technical procedure we have developed using these computational methods and show the four overlays obtained in two craniofacial superimposition cases. This automatic procedure can be thus considered as a tool to aid forensic anthropologists to develop the skull-face overlay, automating and avoiding subjectivity of the most tedious task within craniofacial superimposition. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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 ...

  3. 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.

  4. Relationships between craniocervical posture and pain-related disability in patients with cervico-craniofacial pain

    Science.gov (United States)

    López-de-Uralde-Villanueva, Ibai; Beltran-Alacreu, Hector; Paris-Alemany, Alba; Angulo-Díaz-Parreño, Santiago; La Touche, Roy

    2015-01-01

    Objectives This cross-sectional correlation study explored the relationships between craniocervical posture and pain-related disability in patients with chronic cervico-craniofacial pain (CCFP). Moreover, we investigated the test–retest intrarater reliability of two craniocervical posture measurements: head posture (HP) and the sternomental distance (SMD). Methods Fifty-three asymptomatic subjects and 60 CCFP patients were recruited. One rater measured HP and the SMD using a cervical range of motion device and a digital caliper, respectively. The Spanish versions of the neck disability index and the craniofacial pain and disability inventory were used to assess pain-related disability (neck disability and craniofacial disability, respectively). Results We found no statistically significant correlations between craniocervical posture and pain-related disability variables (HP and neck disability [r=0.105; P>0.05]; HP and craniofacial disability [r=0.132; P>0.05]; SMD and neck disability [r=0.126; P>0.05]; SMD and craniofacial disability [r=0.195; P>0.05]). A moderate positive correlation was observed between HP and SMD for both groups (asymptomatic subjects, r=0.447; CCFP patients, r=0.52). Neck disability was strongly positively correlated with craniofacial disability (r=0.79; Pposture, but these differences were very small (mean difference =1.44 cm for HP; 6.24 mm for SMD). The effect sizes reached by these values were estimated to be small for SMD (d=0.38) and medium for HP (d=0.76). Conclusion The results showed no statistically significant correlations between craniocervical posture and variables of pain-related disability, but a strong correlation between the two variables of disability was found. Our findings suggest that small differences between CCFP patients and asymptomatic subjects exist with respect to the two measurements used to assess craniocervical posture (HP and SMD), and these measures demonstrated high test–retest intrarater reliability for

  5. 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.)

  6. A study on heat transfer characteristics of spherical and fibrous alumina nanofluids

    International Nuclear Information System (INIS)

    Kim, Chang Kyu; Lee, Gyoung-Ja; Rhee, Chang Kyu

    2012-01-01

    Highlights: ► Spherical and fibrous alumina nanoparticles were prepared by pulsed wire evaporation and hydrolysis methods. ► Fibrous alumina nanofluid exhibited higher thermal conductivity enhancement than spherical one due to entangled structure of nanofibers with high aspect-ratio. ► Decreasing rate of viscosity with temperature for fibrous alumina nanofluid was much larger than that for spherical one. - Abstract: Ethylene glycol based nanofluids containing spherical/fibrous alumina nanoparticles were synthesized by pulsed wire evaporation and hydrolysis methods. The crystallographic and morphological properties of the prepared nanoparticles were analyzed by X-ray diffraction, nitrogen gas adsorption and transmission electron microscopy. The average diameter of spherical alumina nanoparticles was about 80 nm and the alumina nanofibers exhibited a high aspect ratio (length/width). The viscosity and thermal conductivity of the spherical/fibrous alumina nanofluids were experimentally measured in the temperature range from 25 to 80 °C. For the fibrous alumina nanofluid, the increase of temperature raised thermal conductivity but lowered viscosity. On the other hand, for the spherical alumina nanofluid, both thermal conductivity and viscosity were decreased with increasing temperature. In particular, the fibrous alumina nanofluid exhibited a higher enhancement of thermal conductivity than the spherical one due to the well-connected structure between entangled nanofibers with high aspect ratio.

  7. 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.

  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. 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.

  10. 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.

  11. 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...

  12. [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.

  13. 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

  14. 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.

  15. 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.

  16. Morphometric analysis of craniofacial features in mono- and dizygotic twins discordant for unilateral cleft lip and palate.

    Science.gov (United States)

    Tessler, Alexis Y; Franchi, Lorenzo; McNamara, James A; Baccetti, Tiziano

    2011-09-01

    To compare craniofacial differences between twins discordant for surgically repaired unilateral cleft lip and palate (CLP) during the developmental ages and to test the effect of zygosity on the shape and size of the craniofacial skeleton of the same twins by means of thin plate spline (TPS) analysis. Lateral and posteroanterior (PA) cephalometric films from 19 sets of monozygotic (MZ) twins (15 male and 4 female) and 10 dizygotic (DZ) twins (7 male and 3 female) were analyzed. TPS analysis evaluated statistically significant differences in the craniofacial shape and size between affected and unaffected twins within MZ and DZ twin couples. No statistically significant differences in craniofacial shape or size between CLP and non-CLP MZ or DZ twins were observed. The level of morphological similarity in CLP vs non-CLP MZ twins was statistically greater than in DZ twins. Morphometric analysis showed that surgically repaired CLP does not produce significant shape or size differences in the craniofacial features of MZ or DZ twins discordant for unilateral CLP.

  17. Immunohistochemical Expression of MCM-2 in Oral Epithelial Dysplasias.

    Science.gov (United States)

    Zakaria, Samar H; Farag, Heba A; Khater, Dina S

    2016-03-17

    Oral cancer is one of the most frequent cancers in the world. It arises from epithelial dysplasia. Hence, identifying these lesions in an early stage could prevent their malignant transformation. The aim of the present work was to assess the cell proliferative activity of minichromosome maintenance protein (MCM-2) in oral epithelial dysplastic lesions and to correlate the results with different grades of epithelial dysplasia in an attempt to use MCM-2 in the early detection of malignancy. MCM-2 expression was determined by the nuclear count in a total of 30 oral epithelial dysplastic specimens roughly classified into 10 cases of mild, moderate, and severe dysplasia. Five cases of early invasive squamous-cell carcinomas and 5 cases of epithelial hyperplasia were also included. The MCM-2 immunostaining was found to increase gradually from mild to moderate to severe dysplasia and reached its maximum value in early invasive squamous cell carcinoma. MCM-2 is of prognostic value in cases of oral dysplasia that have a tendency to undergo malignant transformation.

  18. Concurrent follicular dysplasia and interface dermatitis in Boxer dogs.

    Science.gov (United States)

    Rachid, Milene A; Demaula, Christopher D; Scott, Danny W; Miller, William H; Senter, David A; Myers, Sherry

    2003-06-01

    Recurrent or persistent follicular dysplasia and interface dermatitis are described in nine Boxers. Data on age, sex, seasonality of alopecia and histopathological features of the follicular dysplasia in these nine Boxers are comparable with those described in previous reports. The interface dermatitis was characterized by multifocal annular crusted lesions confined to the areas of follicular dysplasia. The inflammatory lesions were neither pruritic nor painful and affected dogs were otherwise healthy. Histopathologically the clinically inflammatory lesions were characterized as an interface dermatitis. Immunohistochemical studies failed to demonstrate immunoglobulins or complement at the basement membrane zone or within blood vessel walls. In dogs with recurrent or persistent disease, the follicular dysplasia and interface dermatitis ran identical, concurrent courses of spontaneous remission and recurrence, or persistence, respectively. One dog with persistent disease was treated successfully with tetracycline and niacinamide for the interface dermatitis, and melatonin for the follicular dysplasia. Although the aetiopathogenesis of this newly described condition and the relationship between the two histological reaction patterns are not known, photoperiod and genetic predisposition appear to play a role.

  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. 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.

  1. Sessile serrated adenomas with dysplasia: morphological patterns and correlations with MLH1 immunohistochemistry.

    Science.gov (United States)

    Liu, Cheng; Walker, Neal I; Leggett, Barbara A; Whitehall, Vicki Lj; Bettington, Mark L; Rosty, Christophe

    2017-12-01

    Sessile serrated adenomas are the precursor polyp of approximately 20% of colorectal carcinomas. Sessile serrated adenomas with dysplasia are rarely encountered and represent an intermediate step to malignant progression, frequently associated with loss of MLH1 expression. Accurate diagnosis of these lesions is important to facilitate appropriate surveillance, particularly because progression from dysplasia to carcinoma can be rapid. The current World Health Organization classification describes two main patterns of dysplasia occurring in sessile serrated adenomas, namely, serrated and conventional. However, this may not adequately reflect the spectrum of changes seen by pathologists in routine practice. Furthermore, subtle patterns of dysplasia that are nevertheless associated with loss of MLH1 expression are not encompassed in this classification. We performed a morphological analysis of 266 sessile serrated adenomas with dysplasia with concurrent MLH1 immunohistochemistry with the aims of better defining the spectrum of dysplasia occurring in these lesions and correlating dysplasia patterns with MLH1 expression. We found that dysplasia can be divided morphologically into four major patterns, comprising minimal deviation (19%), serrated (12%), adenomatous (8%) and not otherwise specified (79%) groups. Minimal deviation dysplasia is defined by minor architectural and cytological changes that typically requires loss of MLH1 immunohistochemical expression to support the diagnosis. Serrated dysplasia and adenomatous dysplasia have distinctive histological features and are less frequently associated with loss of MLH1 expression (13 and 5%, respectively). Finally, dysplasia not otherwise specified encompasses most cases and shows a diverse range of morphological changes that do not fall into the other subgroups and are frequently associated with loss of MLH1 expression (83%). This morphological classification of sessile serrated adenomas with dysplasia may represent an

  2. Radioiodine treatment in McCune-Albright syndrome with hyperthyroidism

    Directory of Open Access Journals (Sweden)

    Dhritiman Chakraborty

    2012-01-01

    Full Text Available McCune-Albright syndrome (MAS is a sporadic disease characterized by polyostotic fibrous dysplasia, "café-au-lait" spots and hyperfunctional endocrinopathies. Pathophysiological basis is activating mutation of the gene that encodes the alpha subunit of Gs membrane protein that stimulates the intracellular production of cAMP, conferring autonomous secretion of the gland in particular. One of the uncommon endocrine manifestations is hyperthyroidism. We present a patient who had café-au-lait spots, polyostotic fibrous dysplasia and hyperthyroidism. She was treated with radioactive iodine for the symptoms of hyperthyroidism and subsequently relieved from hyperthyroid features.

  3. 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.

  4. 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

  5. Urethral dysontogenic metaplasia in cat with bilateral renal dysplasia

    Directory of Open Access Journals (Sweden)

    Carolina da Fonseca Sapin

    2017-10-01

    Full Text Available This paper to describe a case of dysontogenic urethral metaplasia in a one month old mongrel feline who also had bilateral renal dysplasia. Dysontogenic metaplasia in cats are scarce and this change may be associated with renal dysplasia and/or lower urinary tract. The animal had history of abdominal enlargement since birth and dysuria, eliminating urine only dropwise. Due to the poor prognosis we opted for euthanasia. At necropsy was observed enlarged and distended bladder, reduced kidneys and dilated and tortuous ureters. The urethra was thickened, hard to cut, and histologically, was replacing the connective tissue, cartilage and endochondral ossification areas, which features dysontogenic metaplasia. Both kidneys presented primitive appearance featuring dysplasia. Dysontogenic metaplasia in urinary tract feline with renal dysplasia, has not been described.

  6. The ribosome biogenesis factor Nol11 is required for optimal rDNA transcription and craniofacial development in Xenopus.

    Directory of Open Access Journals (Sweden)

    John N Griffin

    2015-03-01

    Full Text Available The production of ribosomes is ubiquitous and fundamental to life. As such, it is surprising that defects in ribosome biogenesis underlie a growing number of symptomatically distinct inherited disorders, collectively called ribosomopathies. We previously determined that the nucleolar protein, NOL11, is essential for optimal pre-rRNA transcription and processing in human tissue culture cells. However, the role of NOL11 in the development of a multicellular organism remains unknown. Here, we reveal a critical function for NOL11 in vertebrate ribosome biogenesis and craniofacial development. Nol11 is strongly expressed in the developing cranial neural crest (CNC of both amphibians and mammals, and knockdown of Xenopus nol11 results in impaired pre-rRNA transcription and processing, increased apoptosis, and abnormal development of the craniofacial cartilages. Inhibition of p53 rescues this skeletal phenotype, but not the underlying ribosome biogenesis defect, demonstrating an evolutionarily conserved control mechanism through which ribosome-impaired craniofacial cells are removed. Excessive activation of this mechanism impairs craniofacial development. Together, our findings reveal a novel requirement for Nol11 in craniofacial development, present the first frog model of a ribosomopathy, and provide further insight into the clinically important relationship between specific ribosome biogenesis proteins and craniofacial cell survival.

  7. Postoperative assessment of surgical results using three dimensional surface reconstruction CT (3D-CT) in a craniofacial anomaly

    International Nuclear Information System (INIS)

    Nishimura, Jiro; Sato, Kaoru; Nishimoto, Hiroshi; Tsukiyama, Takashi; Fujioka, Mutsuhisa; Akagawa, Tetsuya.

    1988-01-01

    In 1983, Michael W. Vannier and Jeffrey L. Marsh developed a computer method that reconstructs three dimensional (3D) born and soft tissue surfaces, given a high resolution CT scan-series of the facial skeleton. This method has been applied to craniofacial anomalies, basal encephaloceles, and musculoskeletal anomalies. In this study, a postoperative assessment of the craniofacial surgical results has been accomplished using this 3D-CT in 2 children with craniofacial dysmorphism. The authors discuss the advantages of this 3D-CT imaging method in the postoperative assessments of craniofacial anomalies. Results are detailed in the following listing : 1) a postoperative 3D-CT reveals the anatomical details corrected by the craniofacial surgery more precisely and stereographically than conventional radiological methods ; 2) secondary changes of the cranium after the surgery, such as bony formation in the area of the osteotomy and postoperative asymmetric deformities, are detected early by the 3D-CT imaging technique, and, 3) 3D-CT mid-sagittal and top axial views of the intracranial skull base are most useful in postoperative assessments of the surgical results. Basesd on our experience, we expect that three dimensional surface reconstructions from CT scans will become to be used widely in the postoperative assessments of the surgical results of craniofacial anomalies. (author)

  8. 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.

  9. Utility of MDP bone SPECT in the detection of osseous invasion in craniofacial malignancies

    International Nuclear Information System (INIS)

    Saeed, S.; Haq, S.; Sohaib, M.; Khan, A.N.

    2002-01-01

    Aim: The study was designed to observe the role of SPECT imaging for the detection of osseous invasion in craniofacial malignancies. Material and Methods: Radionuclide bone imaging with Tc-99m MDP was done on 20 patients with different craniofacial malignancies. The planar imaging comprised of anterior, lateral and oblique lateral views of the skull. SPECT imaging was done taking 64 views of the skull in a 360 deg. circular path, each of 40 seconds with 128x128 matrix. Visual interpretation of the scans was done and a score of 0, 1, or 2 allocated, representing a lesion as definitely absent, doubtful or definitely present, respectively. SPECT images were compared with planar scans. Results: SPECT was proven superior to planar imaging and radiographs in detection as well as efficient demonstration of the extent of osseous invasion of a craniofacial cancer. The sensitivity was 100% for SPECT, 83.3% for planar and 33.3% for radiographs. Conclusion: SPECT imaging of the skull can serve as an extremely useful complementary investigation in the patients with craniofacial malignancies to assess them for osseous invasion, particularly in tumors likely to invade the skull base

  10. Fibrocartilaginous mesenchymoma with low-grade malignancy

    International Nuclear Information System (INIS)

    Dahlin, D.C.; Bertoni, F.; Beabout, J.W.; Campanacci, M.

    1984-01-01

    In a review of cases of fibrous cartilaginous dysplasia of bone, five of fibrocartilaginous lesions were found to be different in clinical behavior and radiographic and morphologic features from the others. We have named these previously undescribed tumors ''fibrocartilaginous mesenchymomas with low-grade malignancy in the fibrous elements.'' (orig.)

  11. 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.)

  12. 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.

  13. 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.

  14. CHEMISORPtION OF SULFUR (IV OXIDeBY PoLYETHYLENEPOLYAMINE IMPREGNATED FIBROUS MATERIALS. 1. HYDROPHILIC POLYETHYLENEPOLYAMINE IMPREGNATED FIBROUS MATERIALS

    Directory of Open Access Journals (Sweden)

    A. A. Ennan

    2015-03-01

    Full Text Available The hydrophilicity of artificial and synthetic fibers and polyethylenepolyamine (PEPA impregnated fibrous materials based on them was investigated under static conditions using a vacuum sorption installation. Water vapor sorption isotherms were analyzed and monolayer capacitance values  and a water molecules adsorption in the first layer heats were determined in the framework of polymolecular adsorption Brunauer – Emmett – Teller. It has been found that the hydrophilicity of the fibers studied to change in the following sequence: viscose > VION AN-3 > VION KN-1 > nylon-polyester > nitrone > polyester > polypropylene; PEPA modified hydrophilic fibrous material does not depend essentially on the chemical nature of the carrier.

  15. 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: ...

  16. 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.

  17. 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.

  18. Florid cemento-osseous dysplasia: review of an uncommon fibro-osseous lesion of the jaw with important clinical implications.

    Science.gov (United States)

    Fenerty, Sarah; Shaw, Wei; Verma, Rahul; Syed, Ali B; Kuklani, Riya; Yang, Jie; Ali, Sayed

    2017-05-01

    Florid cemento-osseous dysplasia (FCOD) is a rare, benign, multifocal fibro-osseous dysplastic process affecting tooth-bearing areas of the jaw, characterized by replacement of normal trabecular bone with osseous tissue and dense acellular cementum in a fibrous stroma. It is one clinicopathologic variant in a spectrum of related non-neoplastic fibro-osseous lesions known as cemento-osseous dysplasias (CODs), thought to arise from elements of the periodontal ligament. Diagnosis primarily relies upon radiographic and clinical findings; unnecessary biopsy should be avoided, as inoculation with oral pathogens may precipitate chronic infection in these hypovascular lesions. Appropriate management of uncomplicated FCOD consists of periodic radiographic follow-up. Accordingly, it is important that both radiologists and clinicians performing endodontic interventions possess familiarity with this entity in order to prevent misdiagnosis and inappropriate intervention, which may result in a protracted clinical course. Lesions are usually asymptomatic in the absence of infection, typically discovered on routine dental radiographs or imaging performed for unrelated indications. Radiographically, the condition typically manifests as widespread non-expansile intraosseous masses of varying internal lucency and sclerosis that surround the root apices of vital teeth or edentulous areas in the posterior jaw. While all CODs share similar microscopic features, FCOD is distinguished by its multifocal distribution, involving two or more quadrants of the maxilla and mandible, often in a bilateral symmetric fashion. The vast majority of cases are sporadic, though few exhibit an autosomal dominant familial inheritance pattern. In this pictorial review, we discuss the radiologic characteristics of this entity, pertinent clinical and histologic features, differential diagnoses, and management options.

  19. 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.

  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. 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.).

  2. 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.).

  3. Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

    International Nuclear Information System (INIS)

    Karam, Adib R.; Birjawi, Ghina A.; Khoury, Nabil J.; Saghieh, Said; Tawil, Ayman

    2008-01-01

    Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation. (orig.)

  4. Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

    Energy Technology Data Exchange (ETDEWEB)

    Karam, Adib R.; Birjawi, Ghina A.; Khoury, Nabil J. [American University of Beirut Medical Center, Department of Diagnostic Radiology, Beirut (Lebanon); Saghieh, Said [American University of Beirut Medical Center, Department of Orthopedic Surgery, Beirut (Lebanon); Tawil, Ayman [American University of Beirut Medical Center, Department of Pathology, Beirut (Lebanon)

    2008-12-15

    Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation. (orig.)

  5. 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 ...

  6. Inclination and anteversion of Collum femoris in hip dysplasia and coxarthritis

    Energy Technology Data Exchange (ETDEWEB)

    Madsen, J. S.; Svalastoga, E. [Kongelige Veterinaer- og Landbohoejskole, Copenhagen (Denmark)

    1994-07-01

    Femoral neck angles were measured radiographically in 41 dogs examined for hip dysplasia. Steep femoral neck inclination was found to be a phenomenon of hip dysplasia and coxofemoral joint laxity. The altered biomechanics of a steep femoral neck inclination may be a factor in the pathogenesis of hip dysplasia and secondary osteoarthritis.

  7. Cranio-facial remodeling in domestic dogs is associated with changes in larynx position.

    Science.gov (United States)

    Plotsky, Kyle; Rendall, Drew; Chase, Kevin; Riede, Tobias

    2016-06-01

    The hyo-laryngeal complex is a multi-segmented structure integrating the oral and pharyngeal cavities and thus a variety of critical functions related to airway control, feeding, and vocal communication. Currently, we lack a complete understanding of how the hyoid complex, and the functions it mediates, can also be affected by changes in surrounding cranio-facial dimensions. Here, we explore these relationships in a breed of domestic dog, the Portuguese Water Dog, which is characterized by strong cranio-facial variation. We used radiographic images of the upper body and head of 55 adult males and 51 adult females to obtain detailed measures of cranio-facial variation and hyoid anatomy. Principal components analysis revealed multiple orthogonal dimensions of cranio-facial variation, some of which were associated with significant differences in larynx position: the larynx occupied a more descended position in individuals with shorter, broader faces than in those with longer, narrower faces. We then tested the possibility that caudal displacement of the larynx in brachycephalic individuals might reflect a degree of tongue crowding resulting from facial shortening and reduction of oral and pharyngeal spaces. A cadaver sample was used to obtain detailed measurements of constituent bones of the hyoid skeleton and of the tongue body, and their relationships to cranio-facial size and shape and overall body size supported the tongue-crowding hypothesis. Considering the presence of descended larynges in numerous mammalian taxa, our findings establish an important precedent for the possibility that laryngeal descent can be initiated, and even sustained, in part in response to remodeling of the face and cranium for selective pressures unrelated to vocal production. These integrated changes could also have been involved in hominin evolution, where the different laryngeal positions in modern humans compared with nonhuman primates have been traditionally linked to the evolution

  8. Disease: H00444 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available sclerosis (OSCS) is a bone dysplasia characterized by longitudinal striations in the metaphyseal region of the long bones... and sclerosis of the craniofacial bones. The condition is X-linked dominant. Germline mutatio

  9. Assessment of adult hip dysplasia and the outcome of surgical treatment

    DEFF Research Database (Denmark)

    Troelsen, Anders

    2012-01-01

    Hip dysplasia and hip joint deformities in general are recognized as possible precursors of osteoarthritic development. Early and correct identification of hip dysplasia is important in order to offer timely joint preserving treatment. In the contemporary literature, several controversies exist......, and some of these were the focus of this doctoral thesis. Categorized into subjects, the major findings and their possible importance are listed below. DIAGNOSTIC ASSESSMENT OF HIP DYSPLASIA: A multi-observer study quantified the variability of different methods for diagnostic assessment of hip dysplasia...... and osteoarthritis and resulted in general recommendations regarding diagnostic assessment of hip dysplasia. Pelvic tilt was shown to differ significantly between the supine and weight-bearing positions in patients with dysplastic hip joints. This is a finding that adds controversy to the application of neutral...

  10. 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.

  11. 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.

  12. 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.

  13. 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.)

  14. Familial florid Cemento-osseous dysplasia - case report and review of literature.

    Science.gov (United States)

    Thorawat, Amit; Kalkur, Chaitra; Naikmasur, Venkatesh G; Tarakji, Bassel

    2015-12-01

    Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.

  15. Is There a Relationship between Ovarian Epithelial Dysplasia and Infertility?

    Directory of Open Access Journals (Sweden)

    Gautier Chene

    2012-01-01

    Full Text Available Aim. Ovarian epithelial dysplasia was initially described in material from prophylactic oophorectomies performed in patients at genetic risk of ovarian cancer. Similar histopathological abnormalities have been revealed after ovulation stimulation. Since infertility is also a risk factor for ovarian neoplasia, the aim of this study was to study the relationship between infertility and ovarian dysplasia. Methods. We blindly reviewed 127 histopathological slides of adnexectomies or ovarian cystectomies according to three groups—an exposed group to ovulation induction (n = 30, an infertile group without stimulation (n = 35, and a spontaneously fertile control group (n = 62—in order to design an eleven histopathological criteria scoring system. Results. The ovarian dysplasia score was significantly higher in exposed group whereas dysplasia score was low in infertile and control groups (resp., 8.21 in exposed group, 3.69 for infertile patients, and 3.62 for the controls. In the subgroup with refractory infertility there was a trend towards a more severe dysplasia score (8.53 in ovulation induction group and 5.1 in infertile group. Conclusion. These results raise questions as to the responsibility of drugs used to induce ovulation and/or infertility itself in the genesis of ovarian epithelial dysplasia.

  16. Assessment of hip dysplasia and osteoarthritis: Variability of different methods

    International Nuclear Information System (INIS)

    Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld; Roemer, Lone; Kring, Soeren

    2010-01-01

    Background: Reliable assessment of hip dysplasia and osteoarthritis is crucial in young adults who may benefit from joint-preserving surgery. Purpose: To investigate the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis. Material and Methods: By each of four observers, two assessments were done by vision and two by angle construction. For both methods, the intra- and interobserver variability of center-edge and acetabular index angle assessment were analyzed. The observers' ability to diagnose hip dysplasia and osteoarthritis were assessed. All measures were compared to those made on computed tomography scan. Results: Intra- and interobserver variability of angle assessment was less when angles were drawn compared with assessment by vision, and the observers' ability to diagnose hip dysplasia improved when angles were drawn. Assessment of osteoarthritis in general showed poor agreement with findings on computed tomography scan. Conclusion: We recommend that angles always should be drawn for assessment of hip dysplasia on pelvic radiographs. Given the inherent variability of diagnostic assessment of hip dysplasia, a computed tomography scan could be considered in patients with relevant hip symptoms and a center-edge angle between 20 deg and 30 deg. Osteoarthritis should be assessed by measuring the joint space width or by classifying the Toennis grade as either 0-1 or 2-3

  17. Current and emerging basic science concepts in bone biology: implications in craniofacial surgery.

    Science.gov (United States)

    Oppenheimer, Adam J; Mesa, John; Buchman, Steven R

    2012-01-01

    Ongoing research in bone biology has brought cutting-edge technologies into everyday use in craniofacial surgery. Nonetheless, when osseous defects of the craniomaxillofacial skeleton are encountered, autogenous bone grafting remains the criterion standard for reconstruction. Accordingly, the core principles of bone graft physiology continue to be of paramount importance. Bone grafts, however, are not a panacea; donor site morbidity and operative risk are among the limitations of autologous bone graft harvest. Bone graft survival is impaired when irradiation, contamination, and impaired vascularity are encountered. Although the dura can induce calvarial ossification in children younger than 2 years, the repair of critical-size defects in the pediatric population may be hindered by inadequate bone graft donor volume. The novel and emerging field of bone tissue engineering holds great promise as a limitless source of autogenous bone. Three core constituents of bone tissue engineering have been established: scaffolds, signals, and cells. Blood supply is the sine qua non of these components, which are used both individually and concertedly in regenerative craniofacial surgery. The discerning craniofacial surgeon must determine the proper use for these bone graft alternatives, while understanding their concomitant risks. This article presents a review of contemporary and emerging concepts in bone biology and their implications in craniofacial surgery. Current practices, areas of controversy, and near-term future applications are emphasized.

  18. 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

  19. Assessment of fibrous insulation materials for the selenide isotope generator system

    International Nuclear Information System (INIS)

    Wei, G.C; Tennery, V.J.

    1977-11-01

    Fibrous insulations for use in the converter and the heat source of the radioisotope-powered, selenide element, thermoelectric generator (selenide isotope generator) are assessed. The most recent system design and material selection basis is presented. Several fibrous insulation materials which have the potential for use as load-bearing or nonload-bearing thermal insulations are reviewed, and thermophysical properties supplied by manufacturers or published in the literature are presented. Potential problems with the application of fibrous insulations in the selenide isotope generator are as follows: compatibility with graphite, the thermoelectric elements, and the isolation hot frame; devitrification, grain growth, and sintering with an accompanying degradation of insulation quality; impurity diffusion from the insulation to adjoining structures; outgassing and storage of fibrous materials. Areas in which thermophysical data or quantitative information on the insulation and structural stability is lacking are identified

  20. 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.

  1. 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.)

  2. Canine hip dysplasia: significance of early bony spurring

    International Nuclear Information System (INIS)

    Morgan, J.P.

    1987-01-01

    It is the purpose of this study to call attention to new bone production that often occurs early in the sequence of pathological changes associated with canine hip dysplasia. New bone production extending to bony remodeling, as well as femoral head subluxation, both occur in the sequence of pathologic changes associated with canine hip dysplasia. Subluxation is considered primary, while osteoarthrosis is a secondary feature, and both are used in the diagnosis of canine hip dysplasia. This report concerns the significance of the presence of a solitary bony osteophyte, or spur, that is frequently evident on the caudal aspect of the femoral neck as viewed on the conventional ventrodorsal projection. This report utilizes findings from pelvic radiographs of 605 dogs (five breeds). There was a greater frequency (54%)of this bony change in cases diagnosed radiographically as dysplastic than in cases diagnosed as normal(15%).Thus, it is suggested that this minimal radiographic change can be used as an indicator of early canine hip dysplasia, especially in the absence of subluxation of the femoral head

  3. 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.

  4. 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

  5. Cleft Palate-Craniofacial Journal 50th anniversary editorial board commentary: anatomy, basic sciences, and genetics--then and now.

    Science.gov (United States)

    Mooney, Mark P; Cooper, Gregory M; Marazita, Mary L

    2014-05-01

    To celebrate the 50th year of the Cleft Palate-Craniofacial Journal we look back to where we started in 1964 and where we are now, and we speculate about directions for the future in a "Then and Now" editorial series. This editorial examines changing trends and perspectives in anatomical, basic science, and genetic studies published in this 50-year interval. In volume 1 there were 45 total papers, seven (16%) of which were peer-reviewed basic science and genetic articles published: four in anatomy, three in craniofacial biology, and none in genetics. In contrast, in volume 50, of 113 articles there were 47 (42%) peer-reviewed basic science and genetic articles published: 30 in anatomy, five in craniofacial biology, and 12 in genetics. Topical analysis of published manuscripts then and now reveal that similar topics in anatomy and craniofacial biology are still being researched today (e.g., phenotypic variability, optimal timing of surgery, presurgical orthopedics, bone grafting); whereas, most of the more recent papers use advanced technology to address old questions. In contrast, genetic publications have clearly increased in frequency during the last 50 years, which parallels advances in the field during this time. However, all of us have noticed that the more "cutting-edge" papers in these areas are not being submitted for publication to the journal, but instead to discipline-specific journals. Concerted efforts are therefore indicated to attract and publish these cutting-edge papers in order to keep the Cleft Palate-Craniofacial Journal in the forefront of orofacial cleft and craniofacial anomaly research and to provide a valuable service to American Cleft Palate-Craniofacial Association members.

  6. 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.

  7. 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.)

  8. The radiographic features of familial expansile osteolysis

    International Nuclear Information System (INIS)

    Crone, M.D.; Wallace, R.G.H.

    1990-01-01

    The radiographic features of a unique autosomal dominant bone dysplasia are presented. The features are classified as generalised and/or focal. Generalised features are either altered trabecular pattern or modelling abnormalities. Focal features comprise lytic areas which progressively enlarge, producing expansion of the bone and eventual disintegration due to fibrous and finally fatty replacement of the normal medulla. Almost 90% of these lesions occur in the appendicular skeleton. Clinically, hearing loss is the earliest manifestation of the disease, presenting sometimes as early as 4 years of age. Apical and cervical resorption of teeth is extremely common, resulting in premature loss of teeth. Radiologically, the differential diagnosis refers to Paget's disease, polyostotic fibrous dysplasia, and osteofibrous dysplasia. The progressive destruction of the bone is similar to massive osteolysis (Gorham's disease). The radiographic features in combination with the histopathology render the condition unique. (orig.)

  9. Cemento-osseous dysplasia in Jamaica: review of six cases.

    Science.gov (United States)

    Ogunsalu, C; Miles, D

    2005-09-01

    Six cases of cemento-osseous dysplasia (COD) of the jaw bone in Jamaicans are reviewed. Five were documented over a 15-year period (1980-1995). These include a case of florid cemento-osseous dysplasia (previously called gigantiform cementoma). Three of the initial cases were histologically diagnosed as gigantiform cementoma. There was no indication in the patient's case file whether these were familial or non-familial. The other two cases were diagnosed histologically as periapical cemento-osseous dysplasia and cementoblastoma respectively. Based on the current understanding of the nature of florid-cemento-osseous dysplasia (FLCOD), a new case was diagnosed as such solely on radiological findings. This single case of FLCOD is reported and discussed against the background of other cemento-osseous lesions. Special emphasis is placed on the radiology of COD in this paper. The confirmative role of radiology without the need for histophathology and treatment for asymptomatic FLCOD is emphasized.

  10. A new syndrome of 'spondylo-epi-metaphyseal dysplasia: mixed type''

    International Nuclear Information System (INIS)

    Sharma, B.G.

    2003-01-01

    A new type of rare bone dysplasia is described, which shares some common features with spondylo-meta-epiphyseal dysplasia: short limb-abnormal calcification type and lethal metatropic dysplasia. Besides these features, the present case has some additional unusual features. Facial malformation was very obvious and of a different type. The nose and nares were completely flattened. Hypertrophied acetabular bones, round densities on the ilia, premature ossification of many epiphyses and carpal bones, curvilinear calcifications in some joints, fusion of the ischiopubic rami, calcification of many costal cartilages and thick sclerotic base of the skull were a few of the significant findings. On the basis of the clinical and radiological features, the condition has been named ''spondylo-epi-metaphyseal dysplasia: mixed type''. (orig.)

  11. Thin-plate spline analysis of craniofacial growth in Class I and Class II subjects.

    Science.gov (United States)

    Franchi, Lorenzo; Baccetti, Tiziano; Stahl, Franka; McNamara, James A

    2007-07-01

    To compare the craniofacial growth characteristics of untreated subjects with Class II division 1 malocclusion with those of subjects with normal (Class I) occlusion from the prepubertal through the postpubertal stages of development. The Class II division 1 sample consisted of 17 subjects (11 boys and six girls). The Class I sample also consisted of 17 subjects (13 boys and four girls). Three craniofacial regions (cranial base, maxilla, and mandible) were analyzed on the lateral cephalograms of the subjects in both groups by means of thin-plate spline analysis at T1 (prepubertal) and T2 (postpubertal). Both cross-sectional and longitudinal comparisons were performed on both size and shape differences between the two groups. The results showed an increased cranial base angulation as a morphological feature of Class II malocclusion at the prepubertal developmental phase. Maxillary changes in either shape or size were not significant. Subjects with Class II malocclusion exhibited a significant deficiency in the size of the mandible at the completion of active craniofacial growth as compared with Class I subjects. A significant deficiency in the size of the mandible became apparent in Class II subjects during the circumpubertal period and it was still present at the completion of active craniofacial growth.

  12. Influence of hip dysplasia on the development of osteoarthritis of the hip

    NARCIS (Netherlands)

    A.M. Lievense (Annet); S.M. Bierma-Zeinstra (Sita); A.P. Verhagen (Arianne); J.A.N. Verhaar (Jan); B.W. Koes (Bart)

    2004-01-01

    textabstractBackground: It has been suggested that in some patients with primary hip osteoarthritis (OA), the disease occurs as a consequence of acetabular dysplasia or hip dysplasia (HD). Objective: To carry out a systematic review to investigate the association between acetabular dysplasia and hip

  13. 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.

  14. 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

  15. Different Structures of PVA Nano fibrous Membrane for Sound Absorption Application

    International Nuclear Information System (INIS)

    Mohrova, J.; Kalinova, K.

    2012-01-01

    The thin nano fibrous layer has different properties in the field of sound absorption in comparison with porous fibrous material which works on a principle of friction of air particles in contact with walls of pores. In case of the thin nano fibrous layer, which represents a sound absorber here, the energy of sonic waves is absorbed by the principle of membrane resonance. The structure of the membrane can play an important role in the process of converting the sonic energy to a different energy type. The vibration system acts differently depending on the presence of smooth fibers in the structure, amount of partly merged fibers, or structure of polymer foil as extreme. Polyvinyl alcohol (PVA) was used as a polymer because of its good water solubility. It is possible to influence the structure of nano fibrous layer during the production process thanks to this property of polyvinyl alcohol.

  16. 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

  17. Assessment of hip dysplasia and osteoarthritis: Variability of different methods

    Energy Technology Data Exchange (ETDEWEB)

    Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld (Orthopedic Research Unit, Univ. Hospital of Aarhus, Aarhus (Denmark)), e-mail: a_troelsen@hotmail.com; Roemer, Lone (Dept. of Radiology, Univ. Hospital of Aarhus, Aarhus (Denmark)); Kring, Soeren (Dept. of Orthopedic Surgery, Aabenraa Hospital, Aabenraa (Denmark))

    2010-03-15

    Background: Reliable assessment of hip dysplasia and osteoarthritis is crucial in young adults who may benefit from joint-preserving surgery. Purpose: To investigate the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis. Material and Methods: By each of four observers, two assessments were done by vision and two by angle construction. For both methods, the intra- and interobserver variability of center-edge and acetabular index angle assessment were analyzed. The observers' ability to diagnose hip dysplasia and osteoarthritis were assessed. All measures were compared to those made on computed tomography scan. Results: Intra- and interobserver variability of angle assessment was less when angles were drawn compared with assessment by vision, and the observers' ability to diagnose hip dysplasia improved when angles were drawn. Assessment of osteoarthritis in general showed poor agreement with findings on computed tomography scan. Conclusion: We recommend that angles always should be drawn for assessment of hip dysplasia on pelvic radiographs. Given the inherent variability of diagnostic assessment of hip dysplasia, a computed tomography scan could be considered in patients with relevant hip symptoms and a center-edge angle between 20 deg and 30 deg. Osteoarthritis should be assessed by measuring the joint space width or by classifying the Toennis grade as either 0-1 or 2-3

  18. Hypohidrotic ectodermal dysplasia: a clinical case with a longitudinal approach.

    Science.gov (United States)

    Fraiz, Fabian Calixto; Gugisch, Renato Cordeiro; Cavalcante-Leão, Bianca Lopes; Macedo, Liliane Moreira

    2014-11-01

    This paper describes a clinical case of a male with hypohidrotic ectodermal dysplasia submitted to rehabilitation and occlusal dental interventions with follow-up from 3 to 14 years of age. Due to the severe effects on function and esthetics, the clinical manifestations of ectodermal dysplasia exert a negative impact on quality of life. However, oral rehabilitation in childhood poses a challenge due to growth and development. A male with hypohidrotic ectodermal dysplasia began dental intervention at the age of 3 years. The clinical and radiographic exams revealed the absence of several primary and permanent teeth and abnormal shape of the primary maxillary incisors. The facial characteristics were compatible with hypohidrotic ectodermal dysplasia, such as a prominent brow, everted lips, fattened bridge of the nose and small vertical facial height. The treatment proposed involved rehabilitation through successive temporary partial dentures, functional orthopedics of the jaws, esthetic reconstruction of the anterior teeth, timely occlusal intervention and preventive actions for the control of dental caries and plaque. The present case demonstrates that early care plays a fundamental role in minimizing the biopsychosocial consequences of hypohidrotic ectodermal dysplasia and preparing the patient for future oral rehabilitation. Although, the literature offers a number of papers describing dental treatment for ectodermal dysplasia, few cases include long-term follow-up and the use of a functional orthopedic appliance in combination with removable dentures in such patients.

  19. 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....

  20. Mechanical compression of a fibrous membrane surrounding bone causes bone resorption

    NARCIS (Netherlands)

    van der Vis, H. M.; Aspenberg, P.; Tigchelaar, W.; van Noorden, C. J.

    1999-01-01

    Early micromovement and migration of a prosthesis of a hip or knee predicts late clinical loosening of the prosthesis. Such migration is likely to be associated with mechanical compression of the fibrous membrane interpositioned between bone and prosthesis during movement. Compression of the fibrous

  1. 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.)

  2. 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

  3. Hypohidrotic ectodermal dysplasia: a felicitous approach to esthetic and prosthetic management.

    Science.gov (United States)

    Singh, Tapan; Singh, Ronauk; Singh, Gurendra Pal; Singh, Jitender Pal

    2013-05-01

    Ectodermal dysplasia is a hereditary disease characterized by congenital dysplasia of one or more ectodermal structure and other accessory appendages. The oral manifestations are anodontia and poor bony foundation which impairs both esthetic as well as the masticatory function. The prosthodontic management of patients with such dysplastic condition necessitates a multidisciplinary approach. This case report describes the prosthodontic oral rehabilitation of a 16 years old female pediatric patient with ectodermal dysplasia. How to cite this article: Singh T, Singh R, Singh GP, Singh JP. Hypohidrotic Ectodermal Dysplasia: A Felicitous Approach to Esthetic and Prosthetic Management. Int J Clin Pediatr Dent 2013;6(2):140-145.

  4. 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.

  5. McCune-Albright syndrome: radiological and MR findings.

    Science.gov (United States)

    Yongjing, G; Huawei, L; Zilai, P; Bei, D; Hao, J; Kemin, C

    2001-01-01

    McCune-Albright syndrome (MAS) is a non-inherited disorder due to the GNAS1 gene mutation. The syndrome is characterized with the triad of polyostotic fibrous dysplasia, pigmented skin lesions, endocrinopathy, and precocious puberty. We report the case of a 14-year-old boy, presenting with sclerotic type of polyostotic fibrous dysplasia. Radiological methods including plain X-ray film, MR and whole body bone scintigraphy suggested the diagnosis of MAS. MRI provided more directly perceived images and it was more sensitive in demonstrating the lesion: its shape, contents, especially the size of the affected region. Histopathological study and the identification of mutant gene finally confirmed the diagnostic result.

  6. Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.

    Science.gov (United States)

    Krøigård, Anne Bruun; Clemmensen, Ole; Gjørup, Hans; Hertz, Jens Michael; Bygum, Anette

    2016-03-10

    Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to OODD and Schöpf-Schulz-Passarge syndrome (SSPS). We identified a female patient, with consanguineous parents, who was clinically diagnosed with OODD. Genetic testing showed that she was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental examination revealed agenesis of permanent teeth except the two maxillary central incisors. Skin biopsies from the hyperkeratotic palms and soles showed the characteristic changes of eccrine syringofibroadenomatosis, which has been described in patients with ectodermal dysplasias. Together with a family history of tooth anomalies, this lead to the clinical suspicion of a hereditary ectodermal dysplasia. This case illustrates the challenges of diagnosing ectodermal dysplasia like OODD and highlights the relevance of interdisciplinary cooperation in the diagnosis of rare conditions.

  7. Mild traumatic brain injury diagnosis frequently remains unrecorded in subjects with craniofacial fractures.

    Science.gov (United States)

    Puljula, Jussi; Cygnel, Hanna; Mäkinen, Elina; Tuomivaara, Veli; Karttunen, Vesa; Karttunen, Ari; Hillbom, Matti

    2012-12-01

    Traumatic brain injuries (TBI) in subjects with craniofacial fractures are usually diagnosed by emergency room physicians. We investigated how often TBI remains unrecorded in these subjects, and whether diagnostic accuracy has improved after the implementation of new TBI guidelines. All subjects with craniofacial fractures admitted to Oulu University Hospital in 1999 and in 2007 were retrospectively identified. New guidelines for improving the diagnostic accuracy of TBI were implemented between 2000 and 2006. Clinical symptoms of TBI were gathered from notes on hospital charts and compared to the recorded diagnoses at discharge. Logistic regression was used to identify independent predictors for TBI to remain unrecorded. Of 194 subjects with craniofacial fracture, 111(57%) had TBI, 40 in 1999 and 71 in 2007. Fifty-one TBIs (46%) remained unrecorded at discharge, 48 being mild and 3 moderate-to-severe. Subjects with unrecorded TBI were significantly less frequently referred to follow-up visits. Failures to record the TBI diagnosis were less frequent (29/71, 41%) in 2007 than in 1999 (22/40, 55%), but the difference was not statistically significant. The most significant independent predictor for this failure was the clinical specialty (other than neurology/neurosurgery) of the examining physician (palcohol intoxication did not hamper the diagnosis of TBI. TBIs remain frequently unrecorded in subjects with craniofacial fractures. Recording of mild TBI slightly but insignificantly improved after the implementation of new guidelines. Copyright © 2012 Elsevier Ltd. All rights reserved.

  8. 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.

  9. Pathophysiology, diagnosis, and treatment of canine hip dysplasia

    International Nuclear Information System (INIS)

    Cook, J.L.; Tomlinson, J.L.; Constantinescu, G.M.

    1996-01-01

    Dogs with hip dysplasia are commonly presented to veterinarians for evaluation. Although many causes of the condition have been proposed, a definitive cause has not been established. The multifactorial nature of canine hip dysplasia can confuse client education and management ofthe disease. The basic concept involved is the biomechanical imbalance between the forces on the coxofemoral joint and the associated muscle mass; the result is joint laxity in young, growing dogs. This laxity leads to incongruity; the eventual result is degenerative joint disease. Canine hip dysplasia can affect any breed but is most often reported in large and giant breeds. Understanding the pathophysiology and biomechanics involved with this developmental disease is important in providing clients with diagnostic, therapeutic, and prognostic information. The selection of treatment is influenced by the following factors:the age, health, and intended use of the patient; clinical signs; diagnostic findings; the availability of treatment; and the financial constraints of the owner. This article discusses the current concepts concerning the pathophysiology and biomechanics of canine hip dysplasia and outlines diagnostic and therapeutic options. The objective of the article is to provide practitioners with a reference for decision making and client education

  10. 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.

  11. Localised form of spondylo-epiphyseal dysplasia congenita

    International Nuclear Information System (INIS)

    Hoeffel, J.C.; Mohy, R.; Collignon, P.; Moog, G.

    1988-01-01

    We report an unusual case of spondylo-epiphyseal dysplasia congenita which affected only the hips and the thoraco-lumbar spine. The epiphysis of the long bones are normal apart from the hips. Our child has a bilateral epiphyseal dysplasia of both proximal femoral epiphysis discovered incidentally at 11 months and confirmed later on at 8 years, associated with abnormalities of the superior margin of the vertebral bodies from T11 to L2. Very few similar cases have been reported anteriorly. (orig.) [de

  12. 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.

  13. 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)

  14. 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.

  15. Retinal tear presenting in a patient with ectrodactyly ectodermal dysplasia.

    Science.gov (United States)

    Grogg, Jane Ann; Port, Nicholas; Graham, Trevor

    2014-04-01

    This article aims to report a case of known ectrodactyly ectodermal dysplasia in a young male patient who subsequently was found to have a retinal tear and localized retinal detachment. This is a case report of a 22-year-old white male patient with a history of ectrodactyly ectodermal dysplasia. Our patient initially presented with an acute exacerbation of bilateral, red, irritated eyes. No recent changes in vision were reported. The patient's ocular surface disease was consistent with ectrodermal dysplasia syndrome. However, a dilated fundus examination revealed an asymptomatic retinal tear with a surrounding localized retinal detachment. In this case, the patient presented with longstanding ocular surface disease known to be associated with this patient's inherited ectoderm disorder. In addition, this patient revealed a retinal tear, raising the possibility that patients with inherited congenital ectodermal dysplasia could be at risk for damaged structures originating from the neural ectoderm. In this heterogeneous disease, we are contributing to the existing literature a case of ectodermal dysplasia syndrome with obvious ectodermal complications that also had retinal findings leading us to speculate question if neural ectoderm could also be involved in this inherited disease.

  16. Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.

    Science.gov (United States)

    Kantaputra, P; Kaewgahya, M; Jotikasthira, D; Kantaputra, W

    2014-04-01

    We report on three novel (IVS2+1G>A splice site, c.1066G>T, and c.1039G>T, and one previously reported (c.637G>A) WNT10A mutations in three patients affected with odonto-onycho-dermal dysplasia (OODD; OMIM 275980). OODD is a rare form of autosomal recessive ectodermal dysplasia involving hair, teeth, nails, and skin, characterized by hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and fungiform papillae, nail dysplasia, dry skin, palmoplantar keratoderma, and hyperhidrosis of palms and soles. The novel IVS+1G>A splice site mutation is predicted to cause significant protein alteration. The other novel mutations we found including c.1066G>T and c.1039G>T are predicted to cause p.Gly356Cys and p.Glu347X, respectively. Barrel-shaped mandibular incisors and severe hypodontia appear to be associated with homozygous or compound heterozygous mutations of WNT10A. The name "tricho-odonto-onycho-dermal dysplasia" is suggested to replace "odonto-onycho-dermal dysplasia" because hair anomalies including hypotrichosis and slow-growing hair have been reported in numerous reported patients with this syndrome. © 2014 Wiley Periodicals, Inc.

  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. 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.

  19. Robust hydrophobic polyurethane fibrous membranes with tunable porous structure for waterproof and breathable application

    Science.gov (United States)

    Gu, Jiatai; Gu, Haihong; Cao, Jin; Chen, Shaojie; Li, Ni; Xiong, Jie

    2018-05-01

    In this work, novel nanofibrous membranes with waterproof and breathable (W&B) performance were successfully fabricated by the combination of electrospinning and surface modification technology. This fibrous membranes consisted of polyurethane (PU), NaCl, and fluoroalkylsilane (FAS). Firstly, The fibrous construction and porous structure of fibrous membranes were regulated by tuning the NaCl concentrations in PU solutions. Then, the obtained PU/NaCl fibrous membranes were further modified with fluoroalkylsilane (FAS) to improve hydrophobic property. The synergistic effect of porous structure and hydrophobicity on waterproof and breathable performance was investigated. Furthermore, the mechanical property of fibrous membranes was deeply analysed on the basis of macromolecule orientation and adhesive structure. Benefiting from the optimized porous structure and hydrophobic modification, the resultant fibrous membranes exhibited excellent waterproof (hydrostatic pressure of 1261 Mbar), breathable (water vapor transmission (WVT) rate of 9.06 kg m-2 d-1 and air permeability of 4.8 mm s-1) performance, as well as high tensile strength (breakage stress of 10.4 MPa), suggesting a promising candidate for various applications, especially in protective clothing.

  20. Tooth agenesis and craniofacial morphology in pre-orthodontic children with and without morphological deviations in the upper cervical spine

    DEFF Research Database (Denmark)

    Jasemi, Ashkan; Sonnesen, Liselotte

    2016-01-01

    AIM: To analyze differences in prevalence and pattern of tooth agenesis and craniofacial morphology between non syndromic children with tooth agenesis with and without upper cervical spine morphological deviations and to analyze associations between craniofacial morphology and tooth agenesis...... in the two groups together. METHODS: One hundred and twenty-six pre-orthodontic children with tooth agenesis were divided into two groups with (19 children, mean age 11.9) and without (107 children, mean age 11.4) upper spine morphological deviations. Visual assessment of upper spine morphology...... and measurements of craniofacial morphology were performed on lateral cephalograms. Tooth agenesis was evaluated from orthopantomograms. RESULTS: No significant differences in tooth agenesis and craniofacial morphology were found between children with and without upper spine morphological deviations (2.2 ± 1.6 vs...

  1. A case report of arrhythmogenic right ventricular dysplasia

    Directory of Open Access Journals (Sweden)

    Henry Anselmo Mayala

    2013-01-01

    Full Text Available Background Arrhythmogenic right ventricular dysplasia is an autosomal dominant disorder affecting parts of myocardium known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The hallmark feature is fibro-fatty replacement of the right ventricle myocardium characterized by hypokinetic areas with associated arrhythmias originating in the right ventricle. CasePresentation Inthisreporta42yearoldmanwasadmittedatWuhanunion Hospital with the presenting complaints of visual hallucination and difficulty in breathing on exertion, with a family history of sudden death. Clinical and imaging findings are suggestive of Arrhythmogenic right ventricular dysplasia. Conclusion Despitebeingamongtherarecardiacdisease,Arrhythmogenicright ventricular dysplasia is an important cause of ventricular arrhythmias in children and young adults, it is also responsible for sudden cardiac death in the young population, making it necessary for this case report.

  2. 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.

  3. 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.

  4. Backscatter factor and absorption ratio of fibrous zirconia media in the visible

    International Nuclear Information System (INIS)

    Njomo, Donatien; Tagne, Herve Thierry Kamdem

    2001-11-01

    Fibrous thermal insulations are widely used to conserve energy in ambient to high temperature applications including buildings, solar collectors, heat exchangers, furnaces and thermal protection systems of reusable launch vehicles. It has long been recognised that zirconia has the lowest thermal conductivity of commercial refractories. The thermal conductivity of a zirconia fibrous medium is strongly dependent of its bulk density; high bulk densities of zirconia fibers provide the most effective insulation at high temperatures. Lee's theory for radiative transfer through fibrous media is used in this paper. The two-flux model is applied to determine the backward and forward parameters of a medium of zirconia fibers oriented in parallel planes. Theoretical calculations of the backscatter factor and absorption ratio of this medium are carried out in the visible spectrum for different size parameters of the fibers and for three different temperatures. Our results show that the backscatter factor of zirconia fibrous insulations is maximum, and therefore the heat transfer by the fibrous medium is the lowest, for a size parameter of 0.45 for all the temperatures studied. We also observed that the backscatter factor decreases with increasing temperature. (author)

  5. 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 ...

  6. Prospective detection of cortical dysplasia on clinical MRI in pediatric intractable epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Radhakrishnan, Rupa; Leach, James L.; Gelfand, Michael J. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Mangano, Francesco T. [Cincinnati Children' s Hospital Medical Center, Department of Neurosurgery, Cincinnati, OH (United States); Rozhkov, Leonid; Greiner, Hansel M. [Cincinnati Children' s Hospital Medical Center, Department of Neurology, Comprehensive Epilepsy Treatment Center, Cincinnati, OH (United States); Miles, Lili [Cincinnati Children' s Hospital Medical Center, Department of Pathology, Cincinnati, OH (United States)

    2016-09-15

    Cortical dysplasia is the most common cause of pediatric refractory epilepsy. MRI detection of epileptogenic lesion is associated with good postsurgical outcome. Additional electrophysiological information is suggested to be helpful in localization of cortical dysplasia. Educational measures were taken to increase the awareness of cortical dysplasia at our institution in the context of a recent International League Against Epilepsy (ILAE 2011) classification of cortical dysplasia. To determine changes in the rate of prospective identification of cortical dysplasia on an initial radiology report and also evaluate the benefit of MRI review as part of a multidisciplinary epilepsy conference in identifying previously overlooked MRI findings. We retrospectively evaluated surgically treated children with refractory epilepsy from 2007 to 2014 with cortical dysplasia on histopathology. We analyzed the initial radiology report, preoperative MRI interpretation at multidisciplinary epilepsy conference and subsequent retrospective MRI review with knowledge of the resection site. We recorded additional electrophysiological data and the presence of lobar concordance with the MRI findings. Of 78 children (44 MRI lesional) evaluated, 18 had initially overlooked MRI findings. Comparing 2007-2010 to 2011-2014, there was improvement in the rate of overlooked findings on the initial radiology report (54% vs. 13% of lesional cases, respectively; P = 0.008). The majority (72%) were identified at a multidisciplinary conference with lobar concordance of findings with at least one additional electrophysiological investigation in 89%. Awareness of current classification schemes of cortical dysplasia and image review in the context of a multidisciplinary conference can lead to improved MRI detection of cortical dysplasia in children. (orig.)

  7. Prospective detection of cortical dysplasia on clinical MRI in pediatric intractable epilepsy

    International Nuclear Information System (INIS)

    Radhakrishnan, Rupa; Leach, James L.; Gelfand, Michael J.; Mangano, Francesco T.; Rozhkov, Leonid; Greiner, Hansel M.; Miles, Lili

    2016-01-01

    Cortical dysplasia is the most common cause of pediatric refractory epilepsy. MRI detection of epileptogenic lesion is associated with good postsurgical outcome. Additional electrophysiological information is suggested to be helpful in localization of cortical dysplasia. Educational measures were taken to increase the awareness of cortical dysplasia at our institution in the context of a recent International League Against Epilepsy (ILAE 2011) classification of cortical dysplasia. To determine changes in the rate of prospective identification of cortical dysplasia on an initial radiology report and also evaluate the benefit of MRI review as part of a multidisciplinary epilepsy conference in identifying previously overlooked MRI findings. We retrospectively evaluated surgically treated children with refractory epilepsy from 2007 to 2014 with cortical dysplasia on histopathology. We analyzed the initial radiology report, preoperative MRI interpretation at multidisciplinary epilepsy conference and subsequent retrospective MRI review with knowledge of the resection site. We recorded additional electrophysiological data and the presence of lobar concordance with the MRI findings. Of 78 children (44 MRI lesional) evaluated, 18 had initially overlooked MRI findings. Comparing 2007-2010 to 2011-2014, there was improvement in the rate of overlooked findings on the initial radiology report (54% vs. 13% of lesional cases, respectively; P = 0.008). The majority (72%) were identified at a multidisciplinary conference with lobar concordance of findings with at least one additional electrophysiological investigation in 89%. Awareness of current classification schemes of cortical dysplasia and image review in the context of a multidisciplinary conference can lead to improved MRI detection of cortical dysplasia in children. (orig.)

  8. Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

    OpenAIRE

    Woods, C G; Rogers, J G; Mayne, V

    1994-01-01

    We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for just achondroplasia and suggestive of pseudoachondroplastic dysplasia. Subsequently both children have...

  9. 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

  10. 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.

  11. Antibacterial and anti-adhesion effects of the silver nanoparticles-loaded poly(L-lactide) fibrous membrane

    International Nuclear Information System (INIS)

    Liu, Shen; Zhao, Jingwen; Ruan, Hongjiang; Wang, Wei; Wu, Tianyi; Cui, Wenguo; Fan, Cunyi

    2013-01-01

    The complications of tendon injury are frequently compromised by peritendinous adhesions and tendon sheath infection. Physical barriers for anti-adhesion may increase the incidence of postoperative infection. This study was designed to evaluate the potential of silver nanoparticles (AgNPs)-loaded poly(L-lactide) (PLLA) electrospun fibrous membranes to prevent adhesion formation and infection. Results of an in vitro drug release study showed that a burst release was followed by sustained release from electrospun fibrous membranes with a high initial silver content. Fewer fibroblasts adhered to and proliferated on the AgNP-loaded PLLA electrospun fibrous membranes compared with pure PLLA electrospun fibrous membrane. In the antibacterial test, the AgNP-loaded PLLA electrospun fibrous membranes can prevent the adhesion of Gram-positive Staphylococcus aureus and Staphylococcus epidermidis and Gram-negative Pseudomonas aeruginosa. Taken together, these results demonstrate that AgNP-loaded PLLA electrospun fibrous membranes have the convenient practical medical potential of reduction of infection and adhesion formation after tendon injury. - Highlights: ► Silver nanoparticles are directly electrospun into PLLA fibrous membrane. ► Long-lasting release of Ag + ions is achieved. ► Cytotoxicity of silver ions benefits the anti-proliferation of physical barriers. ► Broad anti-microbial effect of drug-loaded fibrous membrane is revealed. ► Antibacterial and anti-adhesion effects of the physical barriers are combined

  12. 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

  13. Pulping and papermaking properties of the leaf fiber and fibrous residue from Agave tequilana

    Energy Technology Data Exchange (ETDEWEB)

    Kurita, T.; Mitsuhashi, S.; Kanetsuna, H.; Iguchi, M.; Shirota, T.; Trujillo, J.J.; Herrera, T.

    1981-01-01

    The leaves and fibrous residue of A. tequilana had fibriles with parallel orientation and helical arrangement to the fiber axis and contained fibers in average length and width of 1.7 mm and 10.3 mu m and 0.8 mm and 25.5 mu m, respectively. The cell wall in leaves was thicker and narrower than those in fibrous residue, and leaves contained cellulose and lignin lower than fibrous residue did. Alkali sulfite cooking of leaves gave pulp, the yield of which was lower than that from fibrous residue. The H/sub 2/On retention and bulk density of leaf pulps increased rapidly on beating suggesting that an internal fibrillation in pulp occurs easily during beating. The breaking length and burst and tear factors of paper from leaf pulp were higher than those from fibrous residue.

  14. 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...

  15. 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 ...

  16. 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)

  17. Infantile bilateral glaucoma in a child with ectodermal dysplasia.

    Science.gov (United States)

    Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella

    2013-01-01

    Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

  18. 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

  19. 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.

  20. 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.

  1. [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.

  2. Curved planar reconstruction of MR images in focal cortical dysplasia of the brain

    International Nuclear Information System (INIS)

    Chung, Gyung Ho; Lee, Sang Yong; Kim, Chong So; Kim, Young Kon; Lee, Young Hwan; Jeong, Su Hyun

    2002-01-01

    To describe curved planar reconstruction imaging (CPR) and determine its usefulness in the evaluation of focal cortical dysplasia of the brain. In 17 cases of focal cortical dysplasia (cortical dysplasia (n=9), schizencephaly (n=5), and heterotopia (n=3), CPR images were created using a multiplanar reconstruction program and imaging data obtained during T1 magnetization prepared rapid acquisition gradient-echo MR imaging. We assessed the precise configuration of abnormalities and their relation to adjacent gyri and sulci. CPRI showed the brain cortex as a 2D panoramic image, demonstrating the precise configurations and locations of dysplasia-associated abnormalities and their relation to adjacent gyri and sulci, and the precise shape of the gray-white matter interface. CPRI can provide important radiological information about the extension and configuration of focal cortical dysplasia, and its relation to neighboring cortical structures. We believe that CPRI should form an essential part of the routine investigation os suspected cases of focal cortical dysplasia

  3. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Grattan-Smith, J.D. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Little, Stephen B. [Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Jones, Richard A. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States)

    2008-01-15

    MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy. (orig.)

  4. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

    International Nuclear Information System (INIS)

    Grattan-Smith, J.D.; Little, Stephen B.; Jones, Richard A.

    2008-01-01

    MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy. (orig.)

  5. 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.

  6. 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

  7. 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.

  8. Podoplanin expression as a predictive marker of dysplasia in oral leukoplakia.

    Science.gov (United States)

    Gissi, Davide Bartolomeo; Gabusi, Andrea; Tarsitano, Achille; Luccarini, Laura; Morandi, Luca; Montebugnoli, Lucio

    2018-05-01

    Recent studies have emphasized the role of podoplanin in oral lesions at risk of malignant transformation. We investigated a group of oral leukoplakias (OLs) to determine a possible relation between altered podoplanin expression and dysplasia, and to compare the results with those obtained by other, widely used biomarkers. The population consisted of 40 consecutive patients with a clinical and histological diagnosis of OL. Thirty-two OLs did not show dysplasia, whereas eight lesions presented with dysplasia. Immunohistochemical expression of podoplanin, p53 and Ki67 was analyzed in all samples. All three biomarkers were positive in seven of eight dysplastic OLs. Among the 32 OLs without dysplasia, Ki67 and p53 showed positive values in 21 and 10 samples respectively, whereas podoplanin was positive in only one case. Multiple logistic regression showed that podoplanin was the most powerful variable (Chi square 9.77; p < .01) statistically related to the presence of dysplasia. In addition, podoplanin showed a higher specificity value (96.87%) than Ki67 (34.37%) and p53 (68.75%). Podoplanin seems to be a reliable means of discriminating lesions with epithelial dysplasia and could be introduced in routine practice as a marker to discriminate OLs at risk of developing cancer. Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  9. 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.

  10. Electrospun PVdF-based fibrous polymer electrolytes for lithium ion polymer batteries

    International Nuclear Information System (INIS)

    Kim, Jeong Rae; Choi, Sung Won; Jo, Seong Mu; Lee, Wha Seop; Kim, Byung Chul

    2004-01-01

    This paper discusses the preparation of microporous fibrous membranes from PVdF solutions with different polymer contents, using the electrospinning technique. Electrospun PVdF-based fibrous membranes with average fiber diameters (AFD's) of 0.45-1.38 μm have an apparent porosity and a mean pore size (MPS) of 80-89% and 1.1-4.3 μm, respectively. They exhibited a high uptake of the electrolyte solution (320-350%) and a high ionic conductivity of above 1 x 10 -3 s/cm at room temperature. Their ionic conductivity increased with the decrease in the AFD of the fibrous membrane due to its high electrolyte uptake. The interaction between the electrolyte molecules and the PVdF with a high crystalline content may have had a minor effect on the lithium ion transfer in the fibrous polymer electrolyte, unlike in a nanoporous gel polymer electrolyte. The fibrous polymer electrolyte that contained a 1 M LiPF 6 -EC/DMC/DEC (1/1/1 by weight) solution showed a high electrochemical stability of above 5.0 V, which increased with the decrease in the AFD The interfacial resistance (R i ) between the polymer electrolyte and the lithium electrode slightly increased with the storage time, compared with the higher increase in the interfacial resistance of other gel polymer electrolytes. The prototype cell (MCMB/PVdF-based fibrous electrolyte/LiCoO 2 ) showed a very stable charge-discharge behavior with a slight capacity loss under constant current and voltage conditions at the C/2-rate of 20 and 60 deg. C

  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. 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.

  13. The Fiber Content in Fibrous Hemp Depending on Selected Agrotechnical Factors

    Directory of Open Access Journals (Sweden)

    Kryszak N.

    2016-06-01

    Full Text Available Relationship between genotypes represented by two fibrous hemp varieties and some agrotechnical factors was investigated in the study. The aim of it was finding how selected factors (three sowing dates, two sowing densities and five harvest dates influence on total fiber content using osmotic degumming of fibrous plants method for fiber content determination.

  14. High-surface-area silica nanospheres (KCC-1) with a fibrous morphology

    KAUST Repository

    Polshettiwar, Vivek; Cha, Dong Kyu; Zhang, Xixiang; Basset, Jean-Marie

    2010-01-01

    Fibrous nanosilica: A new family of high-surface-area silica nanospheres (KCC-1) have been prepared (see picture). KCC-1 features excellent physical properties, including high surface area, unprecedented fibrous surface morphology, high thermal (up to 950 °C) and hydrothermal stabilities, and high mechanical stability. Copyright © 2010 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  15. High-surface-area silica nanospheres (KCC-1) with a fibrous morphology

    KAUST Repository

    Polshettiwar, Vivek

    2010-08-02

    Fibrous nanosilica: A new family of high-surface-area silica nanospheres (KCC-1) have been prepared (see picture). KCC-1 features excellent physical properties, including high surface area, unprecedented fibrous surface morphology, high thermal (up to 950 °C) and hydrothermal stabilities, and high mechanical stability. Copyright © 2010 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  16. Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia.

    Science.gov (United States)

    Chikkannaiah, Panduranga; Nagaraju, Smitha; Kangle, Rajit; Gosavi, Mansi

    2015-01-01

    Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

  17. 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...

  18. 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.

  19. Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.

    Science.gov (United States)

    Eid, Tony; Ghostine, Bachir; Kreichaty, Gaby; Daher, Paul; Ghanem, Ismat

    2013-05-01

    Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases.

  20. 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