Otofacioosseous-Gonadal Syndrome

Otofacioosseous-gondadal syndrome was the designation proposed by da-Silva et al. (1997) for a seemingly new syndrome with probable autosomal recessive inheritance, which they observed in 2 sons and possibly a daughter of first-cousin parents. The syndrome consisted of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures, low nasal root, hypoplastic alae and round tip to the nose, low-set prominent ears, narrow thorax, genu valgum, wormian bones, fusion of carpal bones, delayed bone age, and congenital clubfoot. Skull x-ray demonstrated wormian bones.