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

✍ Scribed by Schmid, M. ;Schröder, M. ;Langenbeck, U. ;Opitz, John M. ;Reynolds, James F.

• Publisher: John Wiley and Sons
• Year: 1985
• Tongue: English
• Weight: 465 KB
• Volume: 22
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320220216

✦ Synopsis

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-auriculovertebral spectrum, may occur (1) sporadically, (2) as component manifestation of syndromes, ( 3 ) as a multifactorial, or (4) as an apparent Mendelian trait.