[Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral ocular damage]. / Lipomatosis encefalocraneocutánea (síndrome de Haberland) con afectación ocular bilateral.
An Pediatr (Barc)
; 66(6): 619-21, 2007 Jun.
Article
em Es
| MEDLINE
| ID: mdl-17583626
ABSTRACT
Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is an unusual form of neurocutaneous syndrome. Clinically, this syndrome is characterized by unilateral lipomatous hamartomas on the scalp and face, ocular damage and ipsilateral malformations of the central nervous system. First described by Haberland and Perou in 1970, only about 40 cases have been reported to date. The differential diagnoses with other neurocutaneous mosaicisms such as Delleman, Goltz, Goldenhar or Proteus syndrome may entail some degree of difficulty due to overlapping features. We report a case of Haberland syndrome in a neonate with bilateral ocular damage, illustrating the wide heterogeneity of this syndrome.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Síndromes Neurocutâneas
/
Lipomatose
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
Es
Ano de publicação:
2007
Tipo de documento:
Article