Sib pair with previously unreported skeletal dysplasia

Abstract

We report on a consanguineous Lebanese family in which a sister and brother had developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, and short limbs. Neonatal radiographs disclosed a bell-shaped thorax, short ribs, some with a cupped end, severe platyspondyly, square iliac bones, horizontal acetabula with medial and lateral spurs, hypoplastic ischia, short long bones, slight widening of the distal femoral metaphyses, and absence of epiphyseal ossification of the knees. The girl died at age 9 months as a result of respiratory insufficiency. A clinical and radiological follow-up of the boy showed that the axial hypotonia, minor anomalies, and short stature were still present, whereas the bone abnormalities had improved. Differential diagnosis suggests that this is a new type of chondrodysplasia.