Literature DB >> 4050865

Familial microtia, meatal atresia, and conductive deafness in three siblings.

M Schmid, M Schröder, U Langenbeck.   

Abstract

We report on three sibs with right-sided microtia, meatal atresia, and conductive deafness. Two of the sibs also had right-sided palatoplegia. These sibs may have the autosomal-recessive form of microtia (No. 25180, McKusick [1983]), of which few familial cases are known to date. The malformation is due to a disturbance of the development of the first and second branchial arches. Review of the literature shows that microtia and meatal atresia with or without middle-ear involvement are developmental field defects which, either isolated or as a part of the facio-auriculo-vertebral spectrum, may occur (1) sporadically, (2) as component manifestation of syndromes, (3) as a multifactorial, or (4) as an apparent Mendelian trait.

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Year:  1985        PMID: 4050865     DOI: 10.1002/ajmg.1320220216

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

Review 1.  Genetic Advances in the Understanding of Microtia.

Authors:  Craig Gendron; Ann Schwentker; John A van Aalst
Journal:  J Pediatr Genet       Date:  2016-09-23

Review 2.  Microtia: epidemiology and genetics.

Authors:  Daniela V Luquetti; Carrie L Heike; Anne V Hing; Michael L Cunningham; Timothy C Cox
Journal:  Am J Med Genet A       Date:  2011-11-21       Impact factor: 2.802

3.  A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Authors:  Chantal Farra; Khaled Yunis; Nadine Yazbeck; Marianne Majdalani; Lama Charafeddine; Rima Wakim; Johnny Awwad
Journal:  Appl Clin Genet       Date:  2011-07-06
  3 in total

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