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Prenatal diagnosis of Neu-Laxova syndrome: a case report.

Aslan H, Gul A, Polat I, Mutaf C, Agar M, Ceylan Y - BMC Pregnancy Childbirth (2002)

Bottom Line: She delivered a 2000 g male fetus.He died five minutes after delivery.Early diagnosis of the disease may offer termination of the pregnancy as an option.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Perinatology, SSK Bakirkoy Maternity and Children Hospital, Istanbul, Turkey. aa5712310@isband.net.tr

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.

No MeSH data available.


Related in: MedlinePlus

Excessive soft tissue deposition in the foot.
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Figure 2: Excessive soft tissue deposition in the foot.

Mentions: Ultrasound examination revealed a single fetus and marked polyhydramnios. Fetal biometry showed a biparietal diameter of 53 mm (21 weeks ± 2 days) and femur length of 55 mm (28 weeks ± 2 days). Microcephaly, flat forehead, micrognathia, generalized edema of the skin, hypoplastic chest (Figure 1), excessive soft tissue deposition of hands and feet (Figure 2), and joint contractures (Figure 3) were detected. A curved penis without scrotal sacs was observed.


Prenatal diagnosis of Neu-Laxova syndrome: a case report.

Aslan H, Gul A, Polat I, Mutaf C, Agar M, Ceylan Y - BMC Pregnancy Childbirth (2002)

Excessive soft tissue deposition in the foot.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC88995&req=5

Figure 2: Excessive soft tissue deposition in the foot.
Mentions: Ultrasound examination revealed a single fetus and marked polyhydramnios. Fetal biometry showed a biparietal diameter of 53 mm (21 weeks ± 2 days) and femur length of 55 mm (28 weeks ± 2 days). Microcephaly, flat forehead, micrognathia, generalized edema of the skin, hypoplastic chest (Figure 1), excessive soft tissue deposition of hands and feet (Figure 2), and joint contractures (Figure 3) were detected. A curved penis without scrotal sacs was observed.

Bottom Line: She delivered a 2000 g male fetus.He died five minutes after delivery.Early diagnosis of the disease may offer termination of the pregnancy as an option.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Perinatology, SSK Bakirkoy Maternity and Children Hospital, Istanbul, Turkey. aa5712310@isband.net.tr

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.

No MeSH data available.


Related in: MedlinePlus