Acrodysostosis: Report of a 13‐year‐old boy with review of literature and metacarphphalangeal pattern profile analysis

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Abstract
We repost on a 13‐yr‐old boy with acrodysostosis, a review of 30 cases in the literature, and metacarpophalangeal pattern profile (MCPP) analysis. The prominent manifestations (present in >75% od cases) of this condition include nasal and maxillary hypoplasia, peripheral dysostosis, first ray hyperplasia of the foot, acromesomelic brachymelia, decreased interpedicular distance, advanced skeletal maturation and mental retardation. Results fo chromosome studies have been normal. An autosomal dominant inherance pattern was reported in two families. Maternal and paternal ages were 2 and 3 yr, respectively, above the average age of the general parent population, which suggests that advanced parental age may be a factor in the cause of this condition. A characteristically abnormal MCPP was found in our patient and in 16 additional cases studied from the literature. A mean NCPP was developed for the syndrome. MCPP analysis may ge useful as a diagnositic tool in patients suspected to have acrodysostosis.