[Kaufmann syndrome or VACTERL association? Discussion of a differential diagnosis]. / Syndrome de Kaufman ou association VACTERL? Discussion d'un diagnostic différentiel.
J Genet Hum
; 32(2): 129-36, 1984 Jun.
Article
em Fr
| MEDLINE
| ID: mdl-6736938
ABSTRACT
The authors describe a dysmature female newborn, with multiple birth defects, who died soon after birth. At first polydactyly and hydrometrocolpos let think of a Kaufman syndrome, with autosomal recessive inheritance. But due to the presence of other malformations and since polydactyly is preaxial, the whole clinical and anatomical picture may be put into the frame of VACTERL association, mainly sporadic. Thus seemingly hydrometrocolpos and urogenital sinus have to be added, although rarely, to the other known defects of the VACTERL association.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Útero
/
Vagina
/
Anormalidades Múltiplas
/
Dedos
/
Cardiopatias Congênitas
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
Fr
Revista:
J Genet Hum
Ano de publicação:
1984
Tipo de documento:
Article