Syndrome of ocular, skeletal & abdominal abnormalities

Abstract

We describe two sisters who had a unique association of facial, ocular & skeletal defects and abdominal muscle hypoplasia. The two affected sisters are the fourth & the fifth sibs, born to healthy first cousin parents originating from Tunisia, indicating autosomal recessive inheritance. The family history is unremarkable. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a OSA syndrome previously reported in 1996 by Mingarelli et al. In the best of our knowledge, it's the second report of this syndrome.