Literature DB >> 11310988

Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings.

F Faravelli1, M Di Rocco, G Stella, A Selicorni, G Camera.   

Abstract

In 1997, Baraitser et al. (Clin Dysmorphol 6:111-121) described a patient with a complex phenotype characterized by facial dysmorphism, micropenis, brachydactyly, pre-axial polydactyly of the feet and tibial aplasia. We report here a patient with similar features.

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Year:  2001        PMID: 11310988     DOI: 10.1097/00019605-200104000-00005

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

Review 1.  Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Authors:  Yousef Shafeghati; Kimia Kahrizi; Hossein Najmabadi; Andreas Walter Kuss; Hans-Hilger Ropers; Andreas Tzschach
Journal:  Eur J Pediatr       Date:  2010-07-27       Impact factor: 3.183

  1 in total

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