Literature DB >> 8055135

Ear anomalies, clefting and limb reduction defects: a new autosomal recessive condition?

I A Glass1, J Walford-Moore, S Chapman, P A Farndon.   

Abstract

We report a pair of siblings whose common clinical features of cleft palate, hypoplastic auditory meati and preauricular skin tags suggest the common inheritance of an autosomal recessive gene despite the findings between the siblings of disparate clinical features involving the central nervous and skeletal systems.

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Year:  1994        PMID: 8055135

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


  1 in total

Review 1.  Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Authors:  Eva Bermejo-Sánchez; Lourdes Cuevas; Emmanuelle Amar; Marian K Bakker; Sebastiano Bianca; Fabrizio Bianchi; Mark A Canfield; Eduardo E Castilla; Maurizio Clementi; Guido Cocchi; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Pierpaolo Mastroiacovo; Osvaldo M Mutchinick; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Csaba Siffel; Elena Szabova; María-Luisa Martínez-Frías
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-14       Impact factor: 3.908

  1 in total

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