Acrodysostosis

Acrodysostosis is a rare syndrome characterized by growth retardation and p eripheral dysostosis. Approx. 70% of affected patients exhibit mental retar dation. Inheritance occurs in an autosomal-dominant pattern. The genetic de fect is not known. Case report: We report an 8 years 10 months old girl with the Typical clini cal signs of acrodysostosis: Short stature, nasal and maxillary hypoplasia, prominent forehead, short and relatively broad hands and feet and a large first toe. Roentgenological findings included brachymetacarpia, -tarsia and phalangia, hyperplasia of the first ray of the feet, cone-shaped epiphyses , and an advanced bone age. Mental development was normal. Similar clinical and radiological findings were also observed in the mother. Discussion: Diagnosis of acrodysostosis was definitive in the reported girl . In rare cases, however, distinguishing of acrodysostosis from Albright's hereditary osteodystrophy (AHO) may be difficult or impossible due to parti al phenotypic overlap and varying expressivity.