A lethal autosomal recessive syndrome of multiple congenital contractures.
Am J Med Genet
; 20(3): 431-9, 1985 Mar.
Article
em En
| MEDLINE
| ID: mdl-3993672
ABSTRACT
We describe 16 cases of a lethal syndrome with multiple congenital contractures from ten families. The main clinical findings included intrauterine growth retardation with marked fetal hydrops, multiple contractures, and facial abnormalities, especially micrognathia. At autopsy, pulmonary hypoplasia and muscular atrophy were present. There was a paucity of anterior horn motor neurons in the four studied cases. We think that the cases represent the same clinical entity, probably caused by homozygosity of an autosomal recessive gene. The syndrome resembles the Pena-Shokeir I syndrome, but seems to differ in some respects, including length of survival and presence of hydrops. Prenatal diagnosis of this syndrome is possible after the 16th week of pregnancy with ultrasound.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Contratura
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1985
Tipo de documento:
Article