Schneckenbecken Dysplasia

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

Epidemiology

Less than 20 cases have been reported in the literature so far.

Clinical description

The typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus.

Etiology

This syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31)

Genetic counseling

Schneckenbecken dysplasia is transmitted in an autosomal recessive manner.