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How to Cite this Article: Mégarbané A, Hanna N, Chouery E, Jalkh N, Mehawej C, Boileau C. 2012. Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy? Am J Med Genet Part A. 158A:1185–1189.
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Clinical Report
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?†
Article first published online: 9 APR 2012
DOI: 10.1002/ajmg.a.35279
Copyright © 2012 Wiley Periodicals, Inc.
Additional Information
How to Cite
Mégarbané, A., Hanna, N., Chouery, E., Jalkh, N., Mehawej, C. and Boileau, C. (2012), Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?. Am. J. Med. Genet., 158A: 1185–1189. doi: 10.1002/ajmg.a.35279
- †
Publication History
- Issue published online: 18 APR 2012
- Article first published online: 9 APR 2012
- Manuscript Accepted: 17 DEC 2011
- Manuscript Received: 5 OCT 2010
Funded by
- Association Française contre la Myopathie
- Abstract
- Article
- References
- Cited By
Keywords:
- array-CGH;
- dysmorphology;
- gene;
- marfanoid habitus
Abstract
We report on two sibs, a girl, and a boy, with tall stature, long, and triangular faces, prominent foreheads with high frontal hairlines, telecanthus, downward slanting of the palpebral fissures, ptosis of the eyelids, everted lower eyelids, large ears, long noses, full, and everted vermilions, highly arched and narrow palates, tooth crowding, thin and long uvulae, coloboma of the alae, hyperextensible joints, long digits, positive thumb signs, flat feet, slightly diminished muscle strength, myopia, astigmatia, inguinal hernia, and vesical diverticula. Total body X-rays showed the presence of advanced bone age in both sibs and bilateral hallux valgus in the girl. Array-CGH did not reveal any pathological CNV. Molecular analysis of FBN1, FBN2, TGFBR1, TGFBR2, and CHST14 gene was normal, and SNP linkage analysis excluded more candidate genes. Differential diagnoses and the possibility that we might be reporting on a hitherto unreported syndrome are discussed. © 2012 Wiley Periodicals, Inc.