Familial microtia, meatal atresia, and conductive deafness in three siblings.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D008297:Male; D010160:Palate, Soft; D010243:Paralysis / Q000235:genetics