Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?

Authors

  • André Mégarbané,

    Corresponding author
    1. Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
    2. Institut Jérôme Lejeune, Paris, France
    • Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, 42, rue de Grenelle, 75007 Paris, France.

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  • Nadine Hanna,

    1. Laboratoire de Génétique moléculaire, Hôpital Ambroise Paré, AP-HP, Université Versailles-Saint Quentin en Yvelines, Boulogne, France
    2. INSERM U698, Hôpital Xavier Bichat, Paris, France
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  • Eliane Chouery,

    1. Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
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  • Nadine Jalkh,

    1. Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
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  • Cybel Mehawej,

    1. Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
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  • Catherine Boileau

    1. Laboratoire de Génétique moléculaire, Hôpital Ambroise Paré, AP-HP, Université Versailles-Saint Quentin en Yvelines, Boulogne, France
    2. INSERM U698, Hôpital Xavier Bichat, Paris, France
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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.

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.

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