Orthopedics management of acromicric dysplasia: Follow up of nine patients

Authors

  • Céline Klein,

    1. Département de Génétique Médicale, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut imagine, Hôpital Necker Enfants Malades, Paris, France
    2. Département de chirurgie orthopédique pédiatrique, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants-Malades, Paris, France
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  • Carine Le Goff,

    1. Département de Génétique Médicale, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut imagine, Hôpital Necker Enfants Malades, Paris, France
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  • Vicken Topouchian,

    1. Département de chirurgie orthopédique pédiatrique, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants-Malades, Paris, France
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  • Sylvie Odent,

    1. Service de génétique clinique, Hôpital Sud, CHU de Rennes, CNRS UMR 6061, Institut de Génétique et Développement de Rennes, IFR 140 GFAS, Faculté de Médecine, Rennes, France
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  • Philippe Violas,

    1. Department of Pediatric Orthopaedic Surgery, Hôpital Sud, Boulevard de Bulgarie, University Hospital, Rennes, France
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  • Christophe Glorion,

    1. Département de chirurgie orthopédique pédiatrique, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants-Malades, Paris, France
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  • Valérie Cormier-Daire

    Corresponding author
    1. Département de Génétique Médicale, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut imagine, Hôpital Necker Enfants Malades, Paris, France
    • Correspondence to:

      Valérie Cormier-Daire, Département de Génétique Médicale, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut imagine, Hôpital Necker Enfants Malades, Paris 75015, France.

      E-mail: valerie.cormier-daire@inserm.fr

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  • Conflict of interest: none.

Abstract

Acromicric dysplasia (AD) is an autosomal dominant disorder characterized by short stature, short extremities, stiff joint and skeleton features including brachymetacarpia, cone-shaped epiphyses, internal notch of the femoral head, and delayed bone age. Recently, we identified fibrillin 1 (FBN1) as the disease gene of AD. The aim of our study was to further describe the long-term follow up of AD patients with an emphasis on orthopedic management. Nine patients with FBN1 mutations were included in the study ranging in age from 5.5 to 64 years. For all, detailed clinical and radiological data were available. Results: Birth parameters were always normal and patients progressively developed short stature <−3 SD. Carpal tunnel syndrome was observed in four patients. We found discrepancy between the carpal bone age and the radius and ulna epiphysis bone ages, a variable severity of hip dysplasia with acetabular dysplasia, epiphyseal and metaphyseal femoral dysplasia resembling Legg–Perthes–Calvé disease and variable pelvic anteversion and hyperlordosis. Orthopedic surgery was required in two patients for hip dysplasia, in one for limb lengthening and in three for carpal tunnel syndrome. Our observations expand the AD phenotype and emphasize the importance of regular orthopedic survey. © 2013 Wiley Periodicals, Inc.

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