title: Orthopedics management of acromicric dysplasia: follow up of nine patients.
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.
authors: Département de Génétique Médicale, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut imagine, Hôpital Necker Enfants Malades, Paris, France; Département de chirurgie orthopédique pédiatrique, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants-Malades, Paris, France.
authors: Céline
authors: C
authors: Klein
authors: Carine
authors: C
authors: Le Goff
authors: Vicken
authors: V
authors: Topouchian
authors: Sylvie
authors: S
authors: Odent
authors: Philippe
authors: P
authors: Violas
authors: Christophe
authors: C
authors: Glorion
authors: Valérie
authors: V
authors: Cormier-Daire
mesh_terms: D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D019637:Orthopedic Procedures; D009985:Orthopedics; D011859:Radiography; D055815:Young Adult; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines
keywords: acromicric dysplasia; carpal tunnel syndrome; hip dysplasia; orthopedic procedure