Literature DB >> 27530878

Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia.

Krupa Shah1, Hitesh Shah2.   

Abstract

Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibia to total absence of the tibia. Several classifications based on radiological description exist in the literature. The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-ectrodactyly, polydactyly-triphalangeal thumb syndrome (Werner syndrome) and micromelia-trigonal brachycephaly syndrome. We describe a child with unclassified tibial hemimelia. The child had right incomplete tibial hemimelia with bifid tibia, left complete tibial hemimelia, bilateral split hands and left split foot. This is the first report of the bifid tibia in the literature. 2016 BMJ Publishing Group Ltd.

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Mesh:

Year:  2016        PMID: 27530878      PMCID: PMC5015155          DOI: 10.1136/bcr-2016-216622

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  6 in total

1.  Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Authors:  Eva Klopocki; Silke Lohan; Sandra C Doelken; Sigmar Stricker; Charlotte W Ockeloen; Renata Soares Thiele de Aguiar; Karina Lezirovitz; Regina Celia Mingroni Netto; Aleksander Jamsheer; Hitesh Shah; Ingo Kurth; Rolf Habenicht; Matthew Warman; Koenraad Devriendt; Ulrike Kordass; Maja Hempel; Anna Rajab; Outi Mäkitie; Mohammed Naveed; Uppala Radhakrishna; Stylianos E Antonarakis; Denise Horn; Stefan Mundlos
Journal:  J Med Genet       Date:  2011-12-06       Impact factor: 6.318

2.  Congenital aplasia and dysplasia of the tibia with intact fibula. Classification and management.

Authors:  D Jones; J Barnes; G C Lloyd-Roberts
Journal:  J Bone Joint Surg Br       Date:  1978-02

3.  Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly).

Authors:  Akifusa Wada; Tomoyuki Nakamura; Toshio Fujii; Noriko Urano; Haruhisa Yanagida; Kazuyuki Takamura; Mayuki Taketa; Yutaka Oketani; Hideaki Kubota
Journal:  J Pediatr Orthop B       Date:  2013-09       Impact factor: 1.041

4.  Congenital deficiency of the tibia.

Authors:  A Kalamchi; R V Dawe
Journal:  J Bone Joint Surg Br       Date:  1985-08

5.  New classification and score for tibial hemimelia.

Authors:  Michael Weber
Journal:  J Child Orthop       Date:  2008-03-06       Impact factor: 1.548

6.  Pre-axial mirror polydactyly associated with tibial deficiency: a study of the patterns of skeletal anomalies of the foot and leg.

Authors:  Renjit Verghese; Hitesh Shah; Gleeson Rebello; Benjamin Joseph
Journal:  J Child Orthop       Date:  2007-02-03       Impact factor: 1.548

  6 in total
  1 in total

Review 1.  Deformity Reconstruction Surgery for Tibial Hemimelia.

Authors:  David Y Chong; Dror Paley
Journal:  Children (Basel)       Date:  2021-05-31
  1 in total

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