Article ID Journal Published Year Pages File Type
2814499 European Journal of Medical Genetics 2010 4 Pages PDF
Abstract

The association of mental retardation and persistent hyperphosphatasia has been described in rare instances. Because of parental consanguinity and sib recurrences autosomal recessive inheritance has been proposed. We report three sibs with a syndrome consisting of severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features. Clinically and radiologically, shortness of distal phalanges could be demonstrated in all of them. Their particular facial appearance led us to two earlier reported familial cases with convincing clinical similarities. We suggest a specific clinical entity within the spectrum of patients with mental retardation and hyperphosphatasia, which is in particular characterized by a recognizable facial gestalt and brachytelephalangy.

Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Authors
, , ,