Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.
Am J Med Genet
; 7(1): 47-74, 1980.
Article
em En
| MEDLINE
| ID: mdl-7211952
ABSTRACT
We report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congenital heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism. All were sporadic cases, parents were not consanguineous, chromosomes were apparently normal. Family histories were unremarkable. There was insecticide and/or herbicide exposure in several of the cases, but no exposures were common to all 6 mothers. Five of the patients were born within an 8-month period, but all in different geographic locations. It is postulated that this is a previously apparently unreported syndrome of presently unknown cause.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anus Imperfurado
/
Hamartoma
/
Hipopituitarismo
/
Neoplasias Hipotalâmicas
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1980
Tipo de documento:
Article