[Macrocephaly and multiple hamartoma: a very variable entity]. / Macrocéphalie et hamartomes multiples : une entité d'expression très variable.
Arch Pediatr
; 11(1): 33-6, 2004 Jan.
Article
em Fr
| MEDLINE
| ID: mdl-14700758
ABSTRACT
UNLABELLED The Bannayan-Zonana is a dominant autosomal polymalformation syndrome. CASE REPORT We report a case of Bannayan-Zonana syndrome in a 3-year-old girl, who presented with macrocephaly and a cervical lipoma. The patient's mother had neurofibromatosis I. No mutation in the PTEN gene was found. The slowly progressive lipoma increased with age and the surgical reduction was necessary. COMMENTARIES Macrocephaly is constant in different syndromes characterized with multiple hamartomas. The multiple hamartomas syndrome represents an entity with a high variability of expression.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Craniofaciais
/
Hamartoma
/
Lipoma
Idioma:
Fr
Ano de publicação:
2004
Tipo de documento:
Article