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Neu Laxova syndrome.
Indian J Pathol Microbiol. 2019 Jan-Mar; 62(1):149-152.IJ

Abstract

NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndrome have been reported in the literature. A stillborn fetus from a 23-year-old female with bad obstetrics history and consanguinity marriage, presented at 41 weeks gestation and not appreciating fetal movements for the past 3 days. Ultrasound examination revealed the absence of fetal cardiac activity and features of growth retardation. The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp and face, depressed nasal bridge, low set ears, microcephaly, slopping forehead, wide interdigital spaces, edema of hands and feet, hypoplastic penis, right leg showed congenital talipes equinovarus and left leg showed rocker bottom foot. On dissection, all organs were in situ. Both lungs were hypoplastic, brain was atrophied, and heart showed right ventricle hypertrophied. A diagnosis of NLS was made. Genetic counseling and early serial ultrasound examination should be performed at high-risk families because of its autosomal recessive mode of inheritance. Early diagnosis of the disease may offer termination of the pregnancy as an option. The prognosis is poor, and the affected newborns are either stillborn or die immediately after birth.

Authors+Show Affiliations

Department of Pathology, KLE University's Jawaharlal Nehru Medical College, Belagavi, Karnataka, India.Department of Pathology, KLE University's Jawaharlal Nehru Medical College, Belagavi, Karnataka, India.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

30706883

Citation

Dwivedi, Tanima, and Manasi Gosavi. "Neu Laxova Syndrome." Indian Journal of Pathology & Microbiology, vol. 62, no. 1, 2019, pp. 149-152.
Dwivedi T, Gosavi M. Neu Laxova syndrome. Indian J Pathol Microbiol. 2019;62(1):149-152.
Dwivedi, T., & Gosavi, M. (2019). Neu Laxova syndrome. Indian Journal of Pathology & Microbiology, 62(1), 149-152. https://doi.org/10.4103/IJPM.IJPM_351_17
Dwivedi T, Gosavi M. Neu Laxova Syndrome. Indian J Pathol Microbiol. 2019 Jan-Mar;62(1):149-152. PubMed PMID: 30706883.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neu Laxova syndrome. AU - Dwivedi,Tanima, AU - Gosavi,Manasi, PY - 2019/2/2/entrez PY - 2019/2/2/pubmed PY - 2019/5/24/medline KW - Congenital multiple abnormalities KW - Neulaxova syndrome KW - ichthyosis SP - 149 EP - 152 JF - Indian journal of pathology & microbiology JO - Indian J Pathol Microbiol VL - 62 IS - 1 N2 - NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndrome have been reported in the literature. A stillborn fetus from a 23-year-old female with bad obstetrics history and consanguinity marriage, presented at 41 weeks gestation and not appreciating fetal movements for the past 3 days. Ultrasound examination revealed the absence of fetal cardiac activity and features of growth retardation. The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp and face, depressed nasal bridge, low set ears, microcephaly, slopping forehead, wide interdigital spaces, edema of hands and feet, hypoplastic penis, right leg showed congenital talipes equinovarus and left leg showed rocker bottom foot. On dissection, all organs were in situ. Both lungs were hypoplastic, brain was atrophied, and heart showed right ventricle hypertrophied. A diagnosis of NLS was made. Genetic counseling and early serial ultrasound examination should be performed at high-risk families because of its autosomal recessive mode of inheritance. Early diagnosis of the disease may offer termination of the pregnancy as an option. The prognosis is poor, and the affected newborns are either stillborn or die immediately after birth. SN - 0974-5130 UR - https://www.unboundmedicine.com/medline/citation/30706883/Neu_Laxova_syndrome_ L2 - http://www.diseaseinfosearch.org/result/5153 DB - PRIME DP - Unbound Medicine ER -