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Autosomal recessive Robinow syndrome

✍ Scribed by Teebi, Ahmad S.

Book ID: 101446414
Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 418 KB
Volume: 35
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320350112

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✦ Synopsis

Two brothers of normal first-cousin parents were found to have Robinow syndrome. Their paternal uncle also married a first cousin and had 3 similarly affected children (2 boys, 1 girl). The 2 affected brothers had short stature, mesomelic and acromelic brachymelia, characteristic face with hypertelorism, wide palpebral fissures, midface hypoplasia and large mouth, and hypogenitalism. Parental consanguinity and affected individuals in 2 sibships of common ancestry strongly suggest autosomal recessive inheritance. Similar cases from the literature are briefly reviewed.

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