A new skeletal dysplasia syndrome with dwarfism, craniofacial anomalies, and unique radiographic findings.
We report on a boy from a consanguinous marriage who has a unique skeletal dysplasia, marked dwarfism, mild developmental delay, eye abnormalities, and cranofacial and skeletal changes that have not been described previously.
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Miller
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D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D002658:Developmental Disabilities / Q000235:genetics; D004392:Dwarfism / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D008297:Male; D011859:Radiography; D012162:Retinal Degeneration / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome