Literature DB >> 495079

Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance.

N Rasmussen, N J Johnsen, J Thomsen.   

Abstract

Six out of twenty descendants of a reportedly affected grandfather have congenital bilateral symmetrical and isolated subtotal atresia of the external auditory canal. Four of the six affected descendants have bilateral foot anomalies--two affected cousins having congenital vertical talus. All of the three affected boys in the third generation have increased interocular distance. Short fifth fingers, bilateral single transverse palmar creases, pyloric stenosis and congenital exotropia were found infrequently and are considered coincidental features. Apart from the atresia, oto-rhinolaryngologic examination, mental function, dermatoglyphics, IgA, kidney function and heart function of the affected descendants were all normal. The karyotype of four affected descendants examined was normal. An autosomal dominant inheritance with variable expressivity is suggested.

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Year:  1979        PMID: 495079     DOI: 10.3109/00016487909137172

Source DB:  PubMed          Journal:  Acta Otolaryngol        ISSN: 0001-6489            Impact factor:   1.494


  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.  Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.

Authors:  Ilse Feenstra; Lisenka E L M Vissers; Ronald J E Pennings; Willy Nillessen; Rolph Pfundt; Henricus P Kunst; Ronald J Admiraal; Joris A Veltman; Conny M A van Ravenswaaij-Arts; Han G Brunner; Cor W R J Cremers
Journal:  Am J Hum Genet       Date:  2011-12-09       Impact factor: 11.025

  2 in total

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