Imaging description

A full-term newborn with polyhydramnios on third trimester ultrasound appeared dysmorphic with a cleft palate. On the AP chest radiograph the infant is noted to be intubated. The chest is slightly small with normal rib length (Fig. 92.1). The scapular bodies are absent. The midthoracic pedicles are unossified. The iliac wings are tall and narrow.

The femurs are disproportionately long compared to the shortened tibias. The skull is dolichocephalic and facial hypoplasia is present. The cervical spine has an S-shaped configuration with vertebral body hypoplasia (Fig. 92.1). These features are typical of acampomelic campomelic dysplasia.

Importance

Fetal and newborn presenting skeletal dysplasias are quite common and diverse. Campomelic dysplasia often presents in utero with short extremities (including femoral length) and bent femurs. It therefore is considered as one of the neonatal bent bone dysplasias. It usually represents a SOX9 gene mutation. Some clinical signs and symptoms are important yet none are diagnostic.