Case Report

Marfanoid Habitus, Dysmorphic Features, and Web Neck

Authors: Y C. GARY LEE, MB, ChB, FRACP, CALLUM J. WILSON, MB, ChB, FRACP, INGRID M. WINSHIP, MD, FRACP, ANDREW G. VEALE, MB, ChB, FRACP

Abstract

Bilateral pneumothoraces and aortic dilatation developed in a 25-year-old white man with marfanoid habitus, dysmorphic features, web neck, and intellectual impairment. He had physical features suggestive of Shprintzen-Goldberg syndrome. We review the common characteristics of Marfan and Shprintzen-Goldberg syndromes and compare them with our case. Physicians should beware of potential cardiovascular abnormalities in patients with marfanoid habitus and dysmorphic features.

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References