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

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Midfacial hypoplasia and mesomelia

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The radiograph

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And the baby

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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

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