Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.

Abstract:

:Shprintzen-Goldberg syndrome (SGS) is a rare disorder characterized by a Marfan-like habitus, mental retardation and craniosynostosis. Cardiac abnormalities, such as aortic root dilation have also been noted as well as several skeletal abnormalities. Its nosological status is unclear as it is hard to delineate SGS from similar disorders, such as Furlong, Marfan type II, Camurati-Engelmann and Loeys-Dietz syndromes. It has been suggested that these conditions represent a phenotypical spectrum associated with aberrant TGF-beta signalling. In support of this notion, we found a novel TGFBR2 missense mutation in a patient with features of SGS.

journal_name

Exp Dermatol

journal_title

Experimental dermatology

authors

van Steensel MA,van Geel M,Parren LJ,Schrander-Stumpel CT,Marcus-Soekarman D

doi

10.1111/j.1600-0625.2007.00648.x

subject

Has Abstract

pub_date

2008-04-01 00:00:00

pages

362-5

issue

4

eissn

0906-6705

issn

1600-0625

pii

EXD648

journal_volume

17

pub_type

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