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. 2002;2(1):1.
doi: 10.1186/1471-2393-2-1.

Prenatal diagnosis of Neu-Laxova syndrome: a case report

Halil Aslan  1 , Ahmet Gul, Ibrahim Polat, Cihan Mutaf, Mehmet Agar, Yavuz Ceylan
Affiliations

Prenatal diagnosis of Neu-Laxova syndrome: a case report

Halil Aslan et al. BMC Pregnancy Childbirth. 2002.

Abstract

BACKGROUND: Neu-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 PRESENTATION: A 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. CONCLUSION: Because 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.

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Figures

Figure 1
Figure 1
Sagittal section of the fetal trunk. Note the hypoplastic thorax (thin arrows) and abdomen (thick arrows).
Figure 2
Figure 2
Excessive soft tissue deposition in the foot.
Figure 3
Figure 3
Flexion contractures of the lower limb (arrow: knee).
Figure 4
Figure 4
Photograph of the neonate with the Neu-Laxova syndrome. Note the micrognathia, absent eyelids, scaly skin, ichtyosis and edema of the hands and feet.
Figure 5
Figure 5
X-ray film of the newborn.
See this image and copyright information in PMC

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