[Clinical diagnosis of familial Levy-Hollister syndrome]. / Diagnóstico clínico de síndrome de Levy-Hollister familiar.
An Pediatr (Barc)
; 80(2): 114-6, 2014 Feb.
Article
em Es
| MEDLINE
| ID: mdl-23562527
ABSTRACT
Lacrimo-auriculo-dento-digital syndrome (LADD syndrome), also known as Levy-Hollister syndrome, is an autosomal dominant defect with variability on phenotypical expression. This syndrome is characterised by the association of dysplasia in various organs and systems that affect craniofacial structures, including lachrymal and salivary glands, teeth, internal and external ear, and the bone skeleton. We present this unusual and almost unknown syndrome (the first case in our state, with only about 100 cases described in the world, distributed in a few families) in a teenager of 17 years admitted to PICU for another reason. After the physical examination, a clinical diagnosis was made in the entire family branch.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Dentárias
/
Anormalidades Múltiplas
/
Sindactilia
/
Perda Auditiva
/
Doenças do Aparelho Lacrimal
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
Es
Revista:
An Pediatr (Barc)
Assunto da revista:
PEDIATRIA
Ano de publicação:
2014
Tipo de documento:
Article