Literature DB >> 16100723

Bifurcation of the femur with tibial agenesis and additional anomalies.

J M van de Kamp1, J J van der Smagt, C F A Bos, A van Haeringen, P C W Hogendoorn, M H Breuning.   

Abstract

Bifurcation of the femur and tibial agenesis are rare anomalies and have been described in both the Gollop-Wolfgang Complex and the tibial agenesis-ectrodactyly syndrome. We report on two patients with bifurcation of the femur and tibial agenesis. Hand ectrodactyly was seen in one of these patients. Both patients had unusual additional anomalies. The first patient had in addition proximal focal femoral deficiency, the other patient had a tracheo-esophageal fistula and pyloric stenosis. Clinical and genetic aspects are discussed. (c) 2005 Wiley-Liss, Inc.

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Year:  2005        PMID: 16100723     DOI: 10.1002/ajmg.a.30918

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  2 in total

Review 1.  Infantile hypertrophic pyloric stenosis--genetics and syndromes.

Authors:  Babette Peeters; Marc A Benninga; Raoul C M Hennekam
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-07-10       Impact factor: 46.802

2.  Femoral bifurcation and bilateral tibial hemimelia: case report.

Authors:  Joshua Ondari; James Kinyanjui; Paul Miano; Edward Sang; Ezekiel Oburu; Michael Maru
Journal:  Pan Afr Med J       Date:  2018-06-05
  2 in total

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