Congenital dwarfism (rhizomelic micromelia),
facial dysmorphism (macrocephaly, hypertelorism, low-set ears), short neck,
agenesis of the scapular wings, and hypoplasia of the iliac and acetabular
wings occurred in both patients. A high risk for hip dislocation is associated
with the disorder. Moderate
developmental delay, a cutaneous cervical diverticulum, and auricular
anomalies were noted.