Marfanoid Habitus, Dysmorphic Features, and Web Neck

Y. C. Gary Lee, MB, ChB, FRACP, Callum J. Wilson, MB, ChB, FRACP, Ingrid M. Winship, MD, FRACP, Andrew G. Veale, MB, ChB, FRACP, Department of Respiratory Medicine, Greenlane Hospital; the Department of Pediatrics, Starship Children's Hospital; and Northern Regional Genetic Services, Auckland Public Hospital, Auckland, New Zealand

South Med J. 2000;93(12) 

In This Article

Abstract and Introduction

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.

Introduction

We report the case of a young white man with marfanoid habitus, dysmorphic features, contractures, intellectual impairment, bilateral pneumothoraces, and aortic dilatation. He had additional findings over those usually seen in Marfan syndrome, Lujan-Fryns syndrome (LFS) or congenital contractural arachnodactyly (CCA). Many of his physical characteristics were suggestive of Shprintzen-Goldberg syndrome (SGS), a rare condition that shares many clinical features with Marfan syndrome. Web neck and pneumothoraces have not been reported with SGS.

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