نتایج جستجو برای: dwarfism
تعداد نتایج: 11171 فیلتر نتایج به سال:
INTRODUCTION Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity and early onset osteoarthrosis. We present the girl with the early expressed and severe PSACH born to clinically and radiographically unaffected p...
One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart disease, ectodermal dysplasia, polyductyly, an abnormally wide labial renum and maxillary molars with single root.
the ellis-van creveld (evc) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. it is a rare condition, with very few cases reported in the medical literature. it is inherited as an autosomal re...
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