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Autosomal recessive Robinow syndrome

1990; Wiley; Volume: 35; Issue: 1 Linguagem: Inglês

10.1002/ajmg.1320350112

1096-8628

Ahmad S. Teebi,

Kruppel-like factors research

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.