Results 11 to 20 of about 32,206 (257)
Orphanet Journal of Rare Diseases, 2021 Background Craniofacial fibrous dysplasia is a fairly rare condition. Some literature have reported a few patients with craniofacial fibrous dysplasia suffering from vascular abnormalities.
Xiaowen Song, Zhi Li
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BRCA1 and BRCA2 tumor suppressors in neural crest cells are essential for craniofacial bone development. [PDF]
PLoS Genetics, 2018 Craniofacial abnormalities, including facial skeletal defects, comprise approximately one-third of all birth defects in humans. Since most bones in the face derive from cranial neural crest cells (CNCCs), which are multipotent stem cells, craniofacial ...
Kohei Kitami +4 more
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Crouzon Syndrome with Ocular Abnormalities: A Case Report [PDF]
Indian Journal of Neonatal Medicine and Research, 2016 Crouzon syndrome is a rare genetic disorder characterized by premature closure of cranial sutures, exophthalmos, beak-like nose and mid facial hypoplasia. It was initially described as hereditary syndrome of craniofacial synostosis.
Shakeen Singh +2 more
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Surgical treatment of patients with caudal regression syndrome
Хирургия позвоночника, 2016 The paper presents clinical examples of surgical treatment of female patients aged 3 and 13 years having congenital mal- formations of the lumbosacral spine, sacral aplasia, and tethered spinal cord. The patients underwent surgical treatment, with due
Sergey V. Kolesov +2 more
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Maxillofacial 3D Imaging in Cleidocranial Dysplasia: A Case Report and Literature Review [PDF]
Journal of Kerman University of Medical Sciences, 2022 Cleidocranial dysplasia (CCD) is an inherited autosomal dominant disorder affecting the skeletal and craniofacial structures, exhibiting distinct maxillofacial abnormalities.
Mohamed Faizal Asan +4 more
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High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development
Cell Reports, 2018 Summary: Defects in patterning during human embryonic development frequently result in craniofacial abnormalities. The gene regulatory programs that build the craniofacial complex are likely controlled by information located between genes and within ...
Andrea Wilderman +4 more
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Journal of Education, Health and Sport, 2021 IntroductionAccording to Angle's classification, a correct bite should have, inter alia, the following regularities: the median line of the face should coincide with the line between the central incisors of the upper and lower arches, the lower incisors ...
Justyna Oliwia Szpyt, Magdalena Gębska
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Saudi Journal of Anaesthesia, 2016 Weaver syndrome is a rare disorder of unknown etiology characterized by skeletal overgrowth, distinctive craniofacial and digital abnormalities and advanced bone age.
R S Khokhar +4 more
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Roberts syndrome with tetraphocomelia: A case report and literature review
SAGE Open Medical Case Reports, 2022 Roberts syndrome is a rare genetic disorder characterized by symmetrical reductive limb malformation and craniofacial abnormalities. It is caused by mutation in the “Establishment of cohesion 1 homolog 2” genes, resulting in the loss of acetyltransferase
Boniface Chukwuneme Okpala +11 more
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PRENATAL DIAGNOSIS OF ROBERT/SC SYNDROME IN A DIABETIC MOTHER WITH A HISTORY OF MEBENDAZOLE AND GLIBENCLAMIDE INTAKE [PDF]
Acta Medica Iranica, 2003 The Robert/SC (pseudothalidomide) syndrome is a rare autosomal recessive disorder, associated with phocomelia and craniofacial abnormalities. An anomalous fetus with lower limb phocomelia and micromelia, lumbar myeloschisis, upper limb and ribs defects ...
M. Pourissa, S. Refahi N. Garaaghagi
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