Tags

Type your tag names separated by a space and hit enter

Rare manifestations of Neu-Laxova syndrome.
Fetal Pediatr Pathol. 2012 Feb; 31(1):1-5.FP

Abstract

Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings and limb contractures are its key features. We present a stillborn female baby of 1.5 kg with characteristic features including growth retardation, microcephaly, severe ectropion, micrognathia, flattened nose, eclabion, large ears, puffy hands and feet. In addition to these features, lissencephaly, severely hypoplastic cerebrum and corpus callossum, Dandy-Walker malformation, Transposition of Great Vessels and hepatomegaly were noted at autopsy. The patient was born at 38 weeks of gestation to consanguineous (second degree) Indian parents. The mother was 26 year old second gravida with lack of prenatal followup. Therefore, the condition was diagnosed postnatally. Because of the autosomal recessive inheritence of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk to offer termination of affected pregnancies.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, S.N. Medical College and Research Centre, Bagalkot, India. mbadakali@rediffmail.comNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22233503

Citation

Badakali, Meenakshi, et al. "Rare Manifestations of Neu-Laxova Syndrome." Fetal and Pediatric Pathology, vol. 31, no. 1, 2012, pp. 1-5.
Badakali M, Badakali A, Dombale V. Rare manifestations of Neu-Laxova syndrome. Fetal Pediatr Pathol. 2012;31(1):1-5.
Badakali, M., Badakali, A., & Dombale, V. (2012). Rare manifestations of Neu-Laxova syndrome. Fetal and Pediatric Pathology, 31(1), 1-5. https://doi.org/10.3109/15513815.2011.618864
Badakali M, Badakali A, Dombale V. Rare Manifestations of Neu-Laxova Syndrome. Fetal Pediatr Pathol. 2012;31(1):1-5. PubMed PMID: 22233503.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rare manifestations of Neu-Laxova syndrome. AU - Badakali,Meenakshi, AU - Badakali,Ashok, AU - Dombale,Vijay, PY - 2012/1/12/entrez PY - 2012/1/12/pubmed PY - 2012/7/20/medline SP - 1 EP - 5 JF - Fetal and pediatric pathology JO - Fetal Pediatr Pathol VL - 31 IS - 1 N2 - Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings and limb contractures are its key features. We present a stillborn female baby of 1.5 kg with characteristic features including growth retardation, microcephaly, severe ectropion, micrognathia, flattened nose, eclabion, large ears, puffy hands and feet. In addition to these features, lissencephaly, severely hypoplastic cerebrum and corpus callossum, Dandy-Walker malformation, Transposition of Great Vessels and hepatomegaly were noted at autopsy. The patient was born at 38 weeks of gestation to consanguineous (second degree) Indian parents. The mother was 26 year old second gravida with lack of prenatal followup. Therefore, the condition was diagnosed postnatally. Because of the autosomal recessive inheritence of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk to offer termination of affected pregnancies. SN - 1551-3823 UR - https://www.unboundmedicine.com/medline/citation/22233503/Rare_manifestations_of_Neu_Laxova_syndrome_ L2 - https://www.tandfonline.com/doi/full/10.3109/15513815.2011.618864 DB - PRIME DP - Unbound Medicine ER -