Thoracic Dysplasia-Hydrocephalus Syndrome

Winter et al. (1987) described 2 sibs of opposite sex, the offspring of consanguineous Pakistani parents, with an apparently 'new' syndrome. The main features were short ribs with a narrow chest and thoracic dysplasia, mild shortening of the limbs, communicating hydrocephalus, and developmental delay. The second sib was diagnosed prenatally by ultrasound at 18 weeks' gestation. The inheritance was presumably autosomal recessive. The first-born sib died at age 18 months from respiratory failure. The pregnancy was terminated in the case of the second sib.