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  • Title: Autosomal recessive Robinow syndrome.
    Author: Teebi AS.
    Journal: Am J Med Genet; 1990 Jan; 35(1):64-8. PubMed ID: 2301471.
    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.
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