Open AccessAcrodysostosis: Report of a 13‐year‐old boy with review of literature and metacarphphalangeal pattern profile analysis
Author(s) -
Butler Merlin G.,
Rames Laura J.,
Wadlington William B.
Publication year - 1988
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/ajmg.1320300416
Subject(s) - maxillary hypoplasia , hypoplasia , medicine , pediatrics , chromosomal analysis , population , autosomal recessive inheritance , chromosome , genetics , biology , karyotype , environmental health , neuroscience , distraction osteogenesis , gene , distraction
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.