Results 1 to 10 of about 9,046 (221)
International guidelines for the management and treatment of Morquio A syndrome. [PDF]
, 2014 Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I +8 more
core +2 more sources
Oro-dental and Radiographic Findings of Weyers Acrofacial Dysostosis: Report of a Rare Case
Bezmiâlem Science, 2020 Weyers acrofacial dysostosis is a rare type of ectodermal dysplasia syndrome characterized by mild short stature, postaxial polydactyly, dystrophic nails, and dental anomalies (hypodontia, microdontia, taurodontism).
Esra ÖZ, Zuhal KIRZIOĞLU
doaj +1 more source
Differential Diagnosis and Treatment Approaches of Hemifacial Microsomia: A Review [PDF]
Iranian Journal of Orthodontics, 2015 Hemifacial macrosomia (HFM) is the second most common facial congenital anomaly. Deficiency of hard and soft tissue on one side of the face is its obvious clinical finding, which can cause facial asymmetry.
Tahereh Hosseinzadeh Nik +1 more
doaj +1 more source
Treacher Collins syndrome-a case report and review of literature [PDF]
, 2011 Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E Treacher Collins who described the essential components of the condition in 1900 ...
Baldawa, Rahul, Kasat, Vikrant O.
core +1 more source
Limbal dermoid in Nager acrofacial dysostosis: A rare case report
Indian Journal of Ophthalmology, 2014 Nager syndrome, also called preaxial acrofacial dysostosis, comprises two groups of defects involving the limbs and craniofacial region, respectively. This syndrome is rare and only 70 cases have been reported in the literature.
Rohit Malik +2 more
doaj +1 more source
Mucolipidosis II: correlation between radiological features and histopathology of the bones. [PDF]
, 1989 Twelve cases of Mucolipidosis II (I-cell disease) with a wide range of severity of skeletal involvement were studied. Pathological findings in two cases provided helpful information in understanding the radiographic features of dysostosis multiplex ...
Beluffi G +10 more
core +1 more source
Formation of vertebral precursors: Past models and future predictions [PDF]
, 2003 Disruption of normal vertebral development results from abnormal formation and segmentation of the vertebral precursors, called somites. Somitogenesis, the sequential formation of a periodic pattern along the antero-posterior axis of vertebrate embryos ...
Baker, Ruth E. +2 more
core +1 more source
Медицинский совет, 2014 Crouzon syndrome (craniofacial dysostosis) is an autosomal dominant disorder, a form of craniosynostosis syndrome; characterized by premature closure of cranial sutures, midfacial hypoplasia, lower mandibular prognathism, marked proptosis and strabismus
D. Y. Ovsyannikov +4 more
doaj +1 more source
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates [PDF]
, 2010 Background Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth.
Bassam R Ali +20 more
core +2 more sources
Indian Journal of Plastic Surgery, 1974 14 patients of otomandibular dysostosis arare congenital anamoly of Ist branchial arch have been presented. Two patients had bilateral defects while there was Palatal paralysis, facial paralysis, disburbed occlusal pattern, bilateral epicanthal folds and
Ramesh Chandra +2 more
doaj +1 more source