Additional malformations in femoral hypoplasia: unusual facies syndrome.
Indian J Pediatr
;
2002 Jun; 69(6): 531-2
Artigo
em Inglês
| IMSEAR
| ID: sea-79090
ABSTRACT
This syndrome comprises of bilateral femoral hypoplasia and unusual facies comprises of short nose with broad tip, elongated philtrum, thin upper lip, small lower jaw, cleft palate and antimongolian slant of palpebral fissure. Etiology is idiopathic, sporadic, few families have been reported to have autosomal dominant inheritance. We report a case with the additional finding of unilateral complete aplasia of femur, encephalocele, complete cleft lip, bilateral absence of 5th metatarsal and toe and hypospadias. The mode of inheritance appears to be sporadic mutation in this case.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Anormalidades Múltiplas
/
Humanos
/
Masculino
/
Recém-Nascido
/
Dedos do Pé
/
Fenda Labial
/
Face
/
Fêmur
/
Hipospadia
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2002
Tipo de documento:
Artigo
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