Marfanoid habitus, dysmorphic features, and web neck.
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.
Lee
Y C
YC
Department of Respiratory Medicine, Greenlane Hospital, Auckland, New Zealand.
Wilson
C J
CJ
Winship
I M
IM
Veale
A G
AG
D000015:Abnormalities, Multiple; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000503:physiopathology; D019465:Craniofacial Abnormalities; D003937:Diagnosis, Differential; D006330:Heart Defects, Congenital; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000503:physiopathology