| Literature DB >> 4050865 |
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.Entities:
Mesh:
Year: 1985 PMID: 4050865 DOI: 10.1002/ajmg.1320220216
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299