title: Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features.
abstract: Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinical and radiological features. Radiological findings of AD and GD consist of shortened tubular bones of the hands and feet, and deformed capital femoral epiphyses. The genetic cause of AD and some cases of GD was shown to be mutations in the transforming growth factor (TGF) β-binding protein-like domain 5 of the fibrillin 1 gene (FBN1), which is also mutated in Marfan syndrome. In the present study, we report and compare the highly varied clinical and radiological features of three Japanese AD/GD children. Our patients, harboring FBN1 mutations p.Tyr1699Cys, p.Ser1750Arg, and p.Gly1762Ser, shared common clinical symptoms such as severe short stature, acromelia and hepatomegaly. Short tubular bones of hands and deformities of femur heads are common radiological features of our patients.
authors.forename: Kosei
authors.initials: K
authors.lastname: Hasegawa
authors.forename: Chikahiko
authors.initials: C
authors.lastname: Numakura
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Tanaka
authors.forename: Mahoko
authors.initials: M
authors.lastname: Furujo
authors.forename: Toshihide
authors.initials: T
authors.lastname: Kubo
authors.forename: Yousuke
authors.identifier: http://orcid.org/0000-0001-5253-6569
authors.initials: Y
authors.lastname: Higuchi
authors.forename: Miho
authors.initials: M
authors.lastname: Yamashita
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Tsukahara
mesh_terms: D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D000071838:Fibrillin-1 / Q000235:genetics*; D006529:Hepatomegaly / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007564:Japan; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D011859:Radiography / Q000379:methods; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; C000605722:FBN1 protein, human; D054392:Adipokines