Familial microtia with meatal atresia and conductive deafness in five generations

American Journal of Medical Genetics
A Gupta, M A Patton

Abstract

We describe a large family with congenital microtia, auditory meatal atresia and conductive deafness. The pedigree suggests autosomal dominant inheritance with variable expression and low penetrance. The literature is also reviewed to describe the inheritance pattern and clinical spectrum noted in this rare syndrome so far. The family is unique because the set of otologic anomalies in five generations was associated with renal cysts in one of the affected members, suggesting that this oto-renal (OR) syndrome may represent a variable expression of the branchio-oto-renal (BOR) syndrome. However, the probability is that this dominant malformation syndrome is a distinct entity.

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Citations

Aug 10, 1999·American Journal of Medical Genetics·G E Graham, J E Allanson
Apr 27, 2004·Indian Journal of Pediatrics·Vaishali MoreMadhuri V Kulkarni
Mar 31, 2006·Proceedings of the National Academy of Sciences of the United States of America·Theresa M RoweGanes C Sen
Feb 16, 2010·European Journal of Medical Genetics·S Chafai ElalaouiA Sefiani
Sep 18, 2007·International Journal of Pediatric Otorhinolaryngology·Tuomas KlockarsJorma Rautio
Sep 18, 2009·Birth Defects Research. Part A, Clinical and Molecular Teratology·Mark A CanfieldAngela E Scheuerle
May 20, 2011·American Journal of Medical Genetics. Part a·Lin LinDashan Yu
Jun 10, 2011·Birth Defects Research. Part A, Clinical and Molecular Teratology·Daniela Varela LuquettiPierpaolo Mastroiacovo
Nov 23, 2011·American Journal of Medical Genetics. Part a·Daniela V LuquettiTimothy C Cox
Jun 11, 2014·The Laryngoscope·Brian P Perry, Jannine D Cody
Jul 31, 2014·Birth Defects Research. Part A, Clinical and Molecular Teratology·Adrienne T HoytUNKNOWN National Birth Defects Prevention Study
Oct 21, 2006·Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons·Roland D EaveyFaramarz Shabdiz
Jan 11, 2003·American Journal of Medical Genetics. Part a·Tatsuo Matsunaga, Eiko Hirota
Jul 13, 2002·American Journal of Medical Genetics·Sophie JuliaDidier Lacombe
Apr 1, 2005·American Journal of Medical Genetics. Part a·Anita E BeckH Eugene Hoyme
Jan 11, 2014·The Journal of Craniofacial Surgery·Katarzyna BogusiakMarcin Kozakiewicz

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