Microtia: A clinical and genetic study at the National Institute of Pediatrics in Mexico City
Arch. med. res
; Arch. med. res;30(2): 120-4, mar.-abr. 1999. tab, ilus
Article
em En
| LILACS
| ID: lil-256634
Biblioteca responsável:
MX1.1
RESUMO
Background. Microtia is a malformation of the ear with extreme variability of expression. It is generally seean as an isolated malformation. However, some authors consider it to be a minimal manifestation of the oculo-auriculo-vertebral spectrum (OAVS), wherem, in addition, there are facial, vertebral, and renal abnormalities, among others. Methods. A total of 145 pediatric patients with unilateral or bilateral microtia not considered as part of a syndrome were studied. All patients were subjected to an international clinical examination, a familial history, and radiographic imaging studies for ruling out associated malformations. Patients were classified into two groups group 1 (60 percent), with isolated microtia; and group 2 (40 percent), considered as OAVS, with microtia associated with hemifacial skeletal microsomia, vertebral and/or renal malformations. Results. No significant differences were found between the groups when the following variables were compared gender; prescence of unilateral or bilateral microtia; atretic external auditory canal; presence of preauricelar tags; hearing loss of any type, and affection of the seventh cranial nerve, as well as associated malformations of other otgans or systems. There were significant differences in relation to the presence of soft-tissue hemifacial microsomia, more frequently seen in patients with OAVS, because the majority of these patients had bone microsomia. Over 66 percent of the cases were sporadic and the rest were familiar. In 28.3 percent of the cases, the history suggested an autosomal-dominant inheritance pattern, and in 5.5 percent, an autosomal-recessive inheritance pattent, although in some familial cases, multifactorial inheritance could not be ignored . Some members in several familes has isolated microtia, and others had mild characteristic manifestations of OAVS. Conclusions. Our results support the hypothesis that isolated microtia is a minimal expression of OAVS. Therefore, it is recommended that patients with microtia be subjected to intentional studies that search for malformations and physical examinations of firstdegree relatives for adquate genetic counseling and management
Buscar no Google
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Orelha
/
Síndrome de Goldenhar
/
Órgãos Governamentais
Limite:
Adolescent
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
Mexico
Idioma:
En
Revista:
Arch. med. res
Assunto da revista:
MEDICINA
Ano de publicação:
1999
Tipo de documento:
Article
País de publicação:
México