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- Publisher
- Wiley
- Copyright
- Copyright © 1990 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.1320350112
- pmid
- 2301471
- Publisher site
- See Article on Publisher Site
Abstract
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.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 1990
Keywords: ; ; ;