Prenatal diagnosis of Neu-Laxova syndrome: a case reportReportar como inadecuado




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BMC Pregnancy and Childbirth

, 2:1

First Online: 19 February 2002Received: 13 October 2001Accepted: 19 February 2002

Abstract

BackgroundNeu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case of Neu-Laxova syndrome NLS diagnosed prenatally by ultrasound examination.

Case presentationA 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks- pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical history was unremarkable. On ultrasound examination microcephaly, flat forehead, micrognathia, intrauterine growth restriction, generalized edema of the skin, hypoplastic chest, excessive soft tissue deposition of hands and feet, joint contractures and a penis without scrotal sacs were detected. She delivered a 2000 g male fetus. He died five minutes after delivery. Postmortem examination confirmed the diagnosis of Neu-Laxova syndrome.

ConclusionBecause of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early-serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2393-2-1 contains supplementary material, which is available to authorized users.

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Autor: Halil Aslan - Ahmet Gul - Ibrahim Polat - Cihan Mutaf - Mehmet Agar - Yavuz Ceylan

Fuente: https://link.springer.com/







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