آكروديس اوستوزيس : گزارش يك جوان مبتلاي 21 ساله ايراني

Acrodysostosis; Report of a 21-Years- old Iranian Patient

Aerodysostosis is a very rare congenital disorder, less than 80 cases appeared in the medical literature till now. Most of the reported cases were sporadic, but in some thmilies evidences like: advanced paternal age and affected parent and child support autosomal dominant inheritance_ Patients usually born with the symptoms and the finding will be prominent by the age. The cardinal clinical features are: growth and developmental delay, short stature, mental retardation, mid lace hypoplasia. short nose, small hands and feet. severe shortness of metacarpal and metatarsal bones and on X-Ray exam, stippled epiphyses during neonatal and infantile period and cone-shape epiphyses of metacarpals in the later, is characteristic for this disease. In this case report, an Iranian 21-year-old male patient who showed completely the symptoms of acrodysostosis is reported. Acrodysostosis is very rare, according to our experience and knowledge, this is the firs known of such case diagnosed in Iran_ In mentally retarded patients who are dysmorphic, one should be aware of the characteristic features of such rare entity.