Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report.
Clin Dysmorphol
; 10(4): 253-5, 2001 Oct.
Article
em En
| MEDLINE
| ID: mdl-11665998
ABSTRACT
We report a male patient presenting with the association of absent lacrimal ducts, distichiasis, dysmorphic facial features and limb abnormalities. Extensive chromosomal studies showed normal chromosomes. We discuss differential diagnoses such as Setleis, Char and Lacrimo-Auriculo-Dento-Digital (LADD) syndromes. This may represent a novel entity for which parental consanguinity would support an autosomal recessive mode of inheritance.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Anormalidades Craniofaciais
/
Pestanas
/
Dedos
/
Aparelho Lacrimal
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article