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1.
Indian J Pediatr ; 2005 Apr; 72(4): 367
Artigo em Inglês | IMSEAR | ID: sea-79226

RESUMO

Sirenomelia is an exceptionally rare congenital malformation characterized by complete or near complete fusion of lower limbs. A newborn with clinical features of sirenomelia including fused lower limbs in medial position, absent fibula, anal atresia, complete absence of urogenital system (bilateral renal agenesis, absent ureters, urinary bladder, absent internal and external genitalia), a single umbilical artery and a vestigial tail is reported. Association of vestigial tail with sirenomelia is not described in the literature.


Assuntos
Autopsia , Cóccix/anormalidades , Ectromelia/complicações , Feminino , Humanos , Recém-Nascido
2.
Indian Pediatr ; 2005 Mar; 42(3): 285-7
Artigo em Inglês | IMSEAR | ID: sea-13526

RESUMO

Fanconi's anemia (FA) is a paradigm for congenital anomalies, aplastic anemia and predisposition to malignancies. Identification of the disease at birth is based on characteristic physical malformations, as hematologic manifestations at birth are extremely rare. We report a case of FA in a newborn who presented with anophthalmia, unilateral radial ray defect, hemivertebrae and thrombocytopenia.


Assuntos
Anormalidades Múltiplas/genética , Anoftalmia/genética , Anemia de Fanconi/diagnóstico , Humanos , Recém-Nascido , Masculino , Trombocitopenia/genética
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