Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency

Abstract

AbstractThis is a report of a 16‐year‐old boy with mental deficiency, shortness of stature, peculiar face and skull, multiple skeletal anomalies, limb contractures, total alopecia, and probable hypothalamic hypogonadism. A striking resemblance exists between this case and a female adolescent described in 1980 by Schinzel. It is suggested that these two cases represent a previously unrecognized syndrome. The fact that this boy was born from a first‐cousin marriage suggests autosomal recessive inheritance.