Phocomelia

Khalil Zouiten, MD, Marie Hélène Bellegarde, RN

Martinique

This is a G₂P₁ 28-year-old patient with unremarkable history. Her examination at 26 weeks demonstrated a fetus with phocomelia from bilateral mesomelia (agenesis of the ulna and radius in this case). A flat profile from mid-face hypoplasia and bilateral clubfeet were also present. Normal amniocentesis. Normal fingernails differentiate this case from the cases described by Kohn, Malinger, el Shawwa et al.¹

The agenesis of the radius and ulna

Midfacial hypoplasia and mesomelia

The radiograph

And the baby

Reference

1) Kohn G, Malinger G, el Shawwa R, Scheinfeld A, Tepper R, Ornoy A, Lachman R, Rimoin DL. Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome.: Am J Med Genet 1995 Mar 27;56(2):132-5