Literature DB >> 27200401

Fanconi Anemia Concurrent with an Unusual Thumb Polydactyly: A Case Report.

Ahmadreza Afshar1.   

Abstract

This case report presents a case of Fanconi's Anemia with an unusual thumb polydactyly in a 2-year-old boy. The extra thumb had no nail, nail bed and distal phalanx. The extra thumb had no active motion. The duplication of the thumb occurred at the carpometacarpal joint but its morphology did not match with any classification described for thumb polydactyly. Although his thumb polydactyly was apparent at birth, Fanconi's anemia was not suspected until during a routine pre-operative laboratory test (CBC) for the elective surgery of his thumb. An early diagnosis of FA is important and the hand surgeons may be the first to have the opportunity to suspect and diagnose the underlying life threatening disorder. This case report presented an opportunity to diagnosis a fatal disorder by a routine pre operative laboratory test. To the best of my knowledge, the phenotype of the thumb polydactyly of the current case has not yet reported.

Entities:  

Keywords:  Congenital anomaly; Fanconi anemia; Thumb duplication; Thumb polydactyly

Year:  2016        PMID: 27200401      PMCID: PMC4852049     

Source DB:  PubMed          Journal:  Arch Bone Jt Surg        ISSN: 2345-461X


  8 in total

Review 1.  The clinical and radiological features of Fanconi's anaemia.

Authors:  E De Kerviler; A Guermazi; A M Zagdanski; E Gluckman; J Frija
Journal:  Clin Radiol       Date:  2000-05       Impact factor: 2.350

2.  Incidence of Fanconi anemia in children with congenital thumb anomalies referred for diepoxybutane testing.

Authors:  Michelle L Webb; Heather Rosen; Amir Taghinia; Erika R McCarty; Felecia Cerrato; Joseph Upton; Brian I Labow
Journal:  J Hand Surg Am       Date:  2011-04-22       Impact factor: 2.230

3.  Fanconi's anaemia and unilateral thumb polydactyly--don't miss it.

Authors:  D J Wilks; S P J Kay; G Bourke
Journal:  J Plast Reconstr Aesthet Surg       Date:  2012-03-03       Impact factor: 2.740

Review 4.  The results of surgery for polydactyly of the thumb. A review.

Authors:  H D Wassel
Journal:  Clin Orthop Relat Res       Date:  1969 May-Jun       Impact factor: 4.176

Review 5.  Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology.

Authors:  M M Al-Qattan
Journal:  Ann Plast Surg       Date:  2013-01       Impact factor: 1.539

Review 6.  Arm anomalies and bone marrow failure may go hand in hand.

Authors:  B P Alter
Journal:  J Hand Surg Am       Date:  1992-05       Impact factor: 2.230

7.  A classification system of radial polydactyly: inclusion of triphalangeal thumb and triplication.

Authors:  J Michiel Zuidam; Ruud W Selles; Michael Ananta; Jetteke Runia; Steven E R Hovius
Journal:  J Hand Surg Am       Date:  2008-03       Impact factor: 2.230

8.  Spectrum of anomalies in Fanconi anaemia.

Authors:  A Glanz; F C Fraser
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.