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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

Photograph of the neonate with the Neu-Laxova syndrome. Note the micrognathia, absent eyelids, scaly skin, ichtyosis and edema of the hands and feet.
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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.

Mentions: After induction of labor she delivered a male infant weighing 2000 g. He died five minutes after delivery. The neonatal examination confirmed all the sonographically detected malformations. On postmortem examination of the neonate microcephaly, sloping forehead, ocular hypertelorism, protruding eyes with absent lids, micrognathia, short neck, ichtyosis, scaling edematous skin, excessive edema of hands and feet, flexion contractures, undescended testes were detected (Figure 4). An x-ray film of the infant revealed microcephaly (Figure 5), and a S-shaped spine.


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)

Photograph of the neonate with the Neu-Laxova syndrome. Note the micrognathia, absent eyelids, scaly skin, ichtyosis and edema of the hands and feet.
© Copyright Policy
Related In: Results  -  Collection

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

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.
Mentions: After induction of labor she delivered a male infant weighing 2000 g. He died five minutes after delivery. The neonatal examination confirmed all the sonographically detected malformations. On postmortem examination of the neonate microcephaly, sloping forehead, ocular hypertelorism, protruding eyes with absent lids, micrognathia, short neck, ichtyosis, scaling edematous skin, excessive edema of hands and feet, flexion contractures, undescended testes were detected (Figure 4). An x-ray film of the infant revealed microcephaly (Figure 5), and a S-shaped spine.

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