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Neu-Laxova syndrome: a prenatal diagnosis.
J Miss State Med Assoc. 2011 Oct; 52(10):307-9.JM

Abstract

Neu-Laxova syndrome is a rare autosomal recessive congenital disorder. Prenatal diagnosis is possible via second trimester ultrasonography. Characteristic ultrasound findings include hydramnios, severe intrauterine growth restriction, craniofacial and CNS anomalies, limb contractures, skin lymphedema, skin restrictions, and akinesia. Fewer than 70 cases have been reported, and no survival beyond six months of age is known with most neonatal deaths occurring within the first few days of life. Overall, this is a lethal condition after birth secondary to severe lung hypoplasia and brain anomalies. Herein we report a recent case from our institution with prenatal diagnosis.

Authors+Show Affiliations

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Mississippi Medical Center, Jackson. 39216, USA.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22268252

Citation

Dhillon, Pushpinder, and James A. Bofill. "Neu-Laxova Syndrome: a Prenatal Diagnosis." Journal of the Mississippi State Medical Association, vol. 52, no. 10, 2011, pp. 307-9.
Dhillon P, Bofill JA. Neu-Laxova syndrome: a prenatal diagnosis. J Miss State Med Assoc. 2011;52(10):307-9.
Dhillon, P., & Bofill, J. A. (2011). Neu-Laxova syndrome: a prenatal diagnosis. Journal of the Mississippi State Medical Association, 52(10), 307-9.
Dhillon P, Bofill JA. Neu-Laxova Syndrome: a Prenatal Diagnosis. J Miss State Med Assoc. 2011;52(10):307-9. PubMed PMID: 22268252.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neu-Laxova syndrome: a prenatal diagnosis. AU - Dhillon,Pushpinder, AU - Bofill,James A, PY - 2012/1/25/entrez PY - 2012/1/25/pubmed PY - 2012/2/15/medline SP - 307 EP - 9 JF - Journal of the Mississippi State Medical Association JO - J Miss State Med Assoc VL - 52 IS - 10 N2 - Neu-Laxova syndrome is a rare autosomal recessive congenital disorder. Prenatal diagnosis is possible via second trimester ultrasonography. Characteristic ultrasound findings include hydramnios, severe intrauterine growth restriction, craniofacial and CNS anomalies, limb contractures, skin lymphedema, skin restrictions, and akinesia. Fewer than 70 cases have been reported, and no survival beyond six months of age is known with most neonatal deaths occurring within the first few days of life. Overall, this is a lethal condition after birth secondary to severe lung hypoplasia and brain anomalies. Herein we report a recent case from our institution with prenatal diagnosis. SN - 0026-6396 UR - https://www.unboundmedicine.com/medline/citation/22268252/Neu_Laxova_syndrome:_a_prenatal_diagnosis_ L2 - http://www.diseaseinfosearch.org/result/5153 DB - PRIME DP - Unbound Medicine ER -