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A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings.
Am J Med Genet. 1987 Feb; 26(2):421-9.AJ

Abstract

A diagnosis of the Neu-Laxova syndrome was made by ultrasonography in the third trimester of pregnancy. Initial ultrasonographic examination, at approximately 28 wk gestation, showed intrauterine growth retardation (IUGR), hypoechoic skeletal structures, kyphosis, feeble fetal activity, and restricted limb movement. Subsequent sonograms showed microcephaly with a receding forehead and prominent eyes, generalised edema and flexion deformities of limbs. Late third trimester findings included polyhydramnios, swelling and webbing of the knee and elbow joints, and severe edema of the hands and feet, giving the impression of absent digits. The clinical features of this case are consistent with group II of Curry's classification of the Neu-Laxova syndrome [Curry, 1982]. The histopathological findings, a triad of dermatological features, poor cortex formation of the long bones, and central nervous system (CNS) dysgenesis, are discussed. In view of the 25% recurrence rate, at risk pregnancies should be carefully monitored by ultrasonography: at 6-8 wk for accurate dating, at 12-16 weeks for active fetal limb movement, and at 16-24 wk for facial and skeletal anomalies, the detection of IUGR, and polyhydramnios.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3544847

Citation

Muller, L M., et al. "A Case of the Neu-Laxova Syndrome: Prenatal Ultrasonographic Monitoring in the Third Trimester and the Histopathological Findings." American Journal of Medical Genetics, vol. 26, no. 2, 1987, pp. 421-9.
Muller LM, de Jong G, Mouton SC, et al. A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings. Am J Med Genet. 1987;26(2):421-9.
Muller, L. M., de Jong, G., Mouton, S. C., Greeff, M. J., Kirby, P., Hewlett, R., & Jordaan, H. F. (1987). A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings. American Journal of Medical Genetics, 26(2), 421-9.
Muller LM, et al. A Case of the Neu-Laxova Syndrome: Prenatal Ultrasonographic Monitoring in the Third Trimester and the Histopathological Findings. Am J Med Genet. 1987;26(2):421-9. PubMed PMID: 3544847.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings. AU - Muller,L M, AU - de Jong,G, AU - Mouton,S C, AU - Greeff,M J, AU - Kirby,P, AU - Hewlett,R, AU - Jordaan,H F, PY - 1987/2/1/pubmed PY - 1987/2/1/medline PY - 1987/2/1/entrez SP - 421 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 26 IS - 2 N2 - A diagnosis of the Neu-Laxova syndrome was made by ultrasonography in the third trimester of pregnancy. Initial ultrasonographic examination, at approximately 28 wk gestation, showed intrauterine growth retardation (IUGR), hypoechoic skeletal structures, kyphosis, feeble fetal activity, and restricted limb movement. Subsequent sonograms showed microcephaly with a receding forehead and prominent eyes, generalised edema and flexion deformities of limbs. Late third trimester findings included polyhydramnios, swelling and webbing of the knee and elbow joints, and severe edema of the hands and feet, giving the impression of absent digits. The clinical features of this case are consistent with group II of Curry's classification of the Neu-Laxova syndrome [Curry, 1982]. The histopathological findings, a triad of dermatological features, poor cortex formation of the long bones, and central nervous system (CNS) dysgenesis, are discussed. In view of the 25% recurrence rate, at risk pregnancies should be carefully monitored by ultrasonography: at 6-8 wk for accurate dating, at 12-16 weeks for active fetal limb movement, and at 16-24 wk for facial and skeletal anomalies, the detection of IUGR, and polyhydramnios. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3544847/A_case_of_the_Neu_Laxova_syndrome:_prenatal_ultrasonographic_monitoring_in_the_third_trimester_and_the_histopathological_findings_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1987&volume=26&issue=2&spage=421 DB - PRIME DP - Unbound Medicine ER -