Literature DB >> 10982484

New mesomelic dysplasia with absent fibulae and triangular tibiae.

R Savarirayan1, V Cormier-Daire, C J Curry, M B Nashelsky, V Rappaport, D L Rimoin, R S Lachman.   

Abstract

We report on two unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulae and severely hypoplastic, triangular-shaped tibiae. Moderate mesomelic shortness was present in the upper limbs with proximal widening of the ulnae. There was also axial skeletal involvement in both cases, characterized radiographically by an abnormal pelvis and marked bilateral glenoid hypoplasia. These cases appear to represent a new form of mesomelic dysplasia distinct from those previously delineated. Copyright 2000 Wiley-Liss, Inc.

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Year:  2000        PMID： 10982484     DOI： 10.1002/1096-8628(20000904)94:1<59::aid-ajmg12>3.0.co;2-2

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Authors:  Norine Voisin; Rhonda E Schnur; Sofia Douzgou; Susan M Hiatt; Cecilie F Rustad; Natasha J Brown; Dawn L Earl; Boris Keren; Olga Levchenko; Sinje Geuer; Sarah Verheyen; Diana Johnson; Yuri A Zarate; Miroslava Hančárová; David J Amor; E Martina Bebin; Jasmin Blatterer; Alfredo Brusco; Gerarda Cappuccio; Joel Charrow; Nicolas Chatron; Gregory M Cooper; Thomas Courtin; Elena Dadali; Julien Delafontaine; Ennio Del Giudice; Martine Doco; Ganka Douglas; Astrid Eisenkölbl; Tara Funari; Giuliana Giannuzzi; Ursula Gruber-Sedlmayr; Nicolas Guex; Delphine Heron; Øystein L Holla; Anna C E Hurst; Jane Juusola; David Kronn; Alexander Lavrov; Crystle Lee; Séverine Lorrain; Else Merckoll; Anna Mikhaleva; Jennifer Norman; Sylvain Pradervand; Darina Prchalová; Lindsay Rhodes; Victoria R Sanders; Zdeněk Sedláček; Heidelis A Seebacher; Elizabeth A Sellars; Fabio Sirchia; Toshiki Takenouchi; Akemi J Tanaka; Heidi Taska-Tench; Elin Tønne; Kristian Tveten; Giuseppina Vitiello; Markéta Vlčková; Tomoko Uehara; Caroline Nava; Binnaz Yalcin; Kenjiro Kosaki; Dian Donnai; Stefan Mundlos; Nicola Brunetti-Pierri; Wendy K Chung; Alexandre Reymond
Journal:  Am J Hum Genet       Date:  2021-05-06       Impact factor: 11.025

2.  De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

Authors:  Daisuke Shimizu; Rieko Sakamoto; Kaori Yamoto; Hirotomo Saitsu; Maki Fukami; Gen Nishimura; Tsutomu Ogata
Journal:  J Hum Genet       Date:  2019-08-06       Impact factor: 3.172

3.  Concomitant rhomboid-shaped tibiae and fibulae, finger-like projections, and orthopedic management in a new variant of nievergelt syndrome: A case report.

Authors:  Tuna Pehlivanoğlu; Mehmet Demirel; Yavuz Sağlam; Halil İbrahim Balci; Hayati Durmaz
Journal:  Int J Surg Case Rep       Date:  2017-12-08
  3 in total

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