title: Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing.
abstract: Acrodysostosis--a rare congenital malformation syndrome--is described in a 4 1/2 year old boy with peripheral dysostosis, nasal hypoplasia, mental retardation (PNM syndrome) and impaired hearing. The differential diagnosis includes pseudo (PH)--and pseudo-pseudohypoparathyroidism (PPH). The patient described here had severe peripheral dysostosis, typical of PNM as opposed to the above-mentioned conditions with only moderate peripheral dysostosis. Furthermore, there were no soft tissue calcifications and no intracranial calcification as can be seen in PH and PPH. Laboratory findings were normal.
mesh_terms: D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging; D002675:Child, Preschool; D006311:Hearing Disorders; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009666:Nose / Q000002:abnormalities; D011859:Radiography; D013577:Syndrome