​This baby boy was born prematurely at 34 weeks gestation via normal spontaneous vaginal delivery (NSVD). He presented clinically with frontal bossing, mid-face hypoplasia, narrow and small thorax, protuberant abdomen, and short limbs.

In addition to the clinical presentation, the constellation of findings on radiographic imaging of the extremities and pelvis, including small thorax, decreased interpedicular distance in the lumbar spine, flared iliac wings, narrow sacrosciatic notches, flat acetabular roofs, rhizomelia, mesomelia and acromelia, suggests the diagnosis of achondroplasia.

Other differentials include hypochondroplasia and spondylo-metaphyseal dysplasia, among others. Congenital syphilis is considered less likely.

The diagnosis of achondroplasia was later confirmed by genetic testing.

This case was submitted with supervision and input from:

Soni C. Chawla, M.D.                                                                                                
Associate Professor                                       
Department of Radiological Sciences                      
David Geffen School of medicine at UCLA               
Olive View-UCLA Medical Center