Tags

Type your tag names separated by a space and hit enter

Second trimester diagnosis of Neu Laxova syndrome.
Prenat Diagn. 2003 Jan; 23(1):21-4.PD

Abstract

This is the first report of a prenatally diagnosed case of Neu Laxova syndrome (NLS) from India. This also includes a case of NLS in monochorionic diamniotic twins and two more cases in which we were able to detect most of the features of NLS as early as 19 to 20 weeks by routine antenatal ultrasonography. Severe intrauterine growth retardation (IUGR), microcephaly, central nervous system (CNS) abnormality, joint contractures, and abnormal facies are the major diagnostic features observed in prenatal ultrasonography. Risk factors such as consanguinity and history of intrauterine death or stillbirth in siblings have been noted in all the cases, but none of the three families that were reported had previously had an affected fetus. The spectrum of skin manifestations and frequency of occurrence of major clinical features of the syndrome have been discussed. Review of the literature on NLS and possibility of detecting the syndrome in the second trimester is discussed.

Authors+Show Affiliations

Department of Clinical Genetics & Dysmorphology, Mediscan Prenatal Diagnosis & Fetal Therapy Centre, Royapettah, Chennai, India.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12533807

Citation

Shivarajan, M A., et al. "Second Trimester Diagnosis of Neu Laxova Syndrome." Prenatal Diagnosis, vol. 23, no. 1, 2003, pp. 21-4.
Shivarajan MA, Suresh S, Jagadeesh S, et al. Second trimester diagnosis of Neu Laxova syndrome. Prenat Diagn. 2003;23(1):21-4.
Shivarajan, M. A., Suresh, S., Jagadeesh, S., Lata, S., & Bhat, L. (2003). Second trimester diagnosis of Neu Laxova syndrome. Prenatal Diagnosis, 23(1), 21-4.
Shivarajan MA, et al. Second Trimester Diagnosis of Neu Laxova Syndrome. Prenat Diagn. 2003;23(1):21-4. PubMed PMID: 12533807.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Second trimester diagnosis of Neu Laxova syndrome. AU - Shivarajan,M A, AU - Suresh,S, AU - Jagadeesh,Sujatha, AU - Lata,S, AU - Bhat,Lathaa, PY - 2003/1/21/pubmed PY - 2003/7/3/medline PY - 2003/1/21/entrez SP - 21 EP - 4 JF - Prenatal diagnosis JO - Prenat Diagn VL - 23 IS - 1 N2 - This is the first report of a prenatally diagnosed case of Neu Laxova syndrome (NLS) from India. This also includes a case of NLS in monochorionic diamniotic twins and two more cases in which we were able to detect most of the features of NLS as early as 19 to 20 weeks by routine antenatal ultrasonography. Severe intrauterine growth retardation (IUGR), microcephaly, central nervous system (CNS) abnormality, joint contractures, and abnormal facies are the major diagnostic features observed in prenatal ultrasonography. Risk factors such as consanguinity and history of intrauterine death or stillbirth in siblings have been noted in all the cases, but none of the three families that were reported had previously had an affected fetus. The spectrum of skin manifestations and frequency of occurrence of major clinical features of the syndrome have been discussed. Review of the literature on NLS and possibility of detecting the syndrome in the second trimester is discussed. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/12533807/Second_trimester_diagnosis_of_Neu_Laxova_syndrome_ L2 - https://doi.org/10.1002/pd.485 DB - PRIME DP - Unbound Medicine ER -