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

✍ Scribed by van Gelderen, H. H. ;Opitz, John M.

Publisher: John Wiley and Sons
Year: 1982
Tongue: English
Weight: 298 KB
Volume: 13
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320130406

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✦ Synopsis

Abstract

This 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.

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