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Neu-Laxova syndrome: a case report.
Mymensingh Med J. 2014 Jan; 23(1):167-9.MM

Abstract

Neu-Laxova syndrome (NLS) is a rare lethal syndrome found in both consanguinous and non-consanguinous couple. This is characterized by terrible face with unusual craniofacial appearance with exophthalmos, spectrum of central nervous system malformation, like microcaphaly, hypoplastic cerebellum, cleft lip/palate, ichthyosis and oedema. The diagnosis is made on the basis of clinical parameter. We report a 4 hour old male term newborn with IUGR of Neu-Laxova syndrome presented with anencephaly, rudimentary cerebellum, exophthalmos of right eye, bilateral cleft lip and palate and cryptorchidism. Anencephaly and cryptorchidism are two recently reported findings of NLS. We are presenting this case in addition from Bangladesh to lend further support to those two new findings as component of Neu-Laxova syndrome. Outcome of this syndrome is not good. Most of the patients are died of infection within hours to days.

Authors+Show Affiliations

Dr Sunirmal Roy, Associate Professor, Department of Neonatology, Sir Sallimullah Medical College (SSMC), Mitford, Dhaka, Bangladesh.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24584393

Citation

Roy, S, et al. "Neu-Laxova Syndrome: a Case Report." Mymensingh Medical Journal : MMJ, vol. 23, no. 1, 2014, pp. 167-9.
Roy S, Begum J, Sharifunnaher B, et al. Neu-Laxova syndrome: a case report. Mymensingh Med J. 2014;23(1):167-9.
Roy, S., Begum, J., Sharifunnaher, B., Saha, A. K., Afroza, S., & Islam, M. Z. (2014). Neu-Laxova syndrome: a case report. Mymensingh Medical Journal : MMJ, 23(1), 167-9.
Roy S, et al. Neu-Laxova Syndrome: a Case Report. Mymensingh Med J. 2014;23(1):167-9. PubMed PMID: 24584393.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neu-Laxova syndrome: a case report. AU - Roy,S, AU - Begum,J, AU - Sharifunnaher,B, AU - Saha,A K, AU - Afroza,S, AU - Islam,M Z, PY - 2014/3/4/entrez PY - 2014/3/4/pubmed PY - 2014/5/21/medline SP - 167 EP - 9 JF - Mymensingh medical journal : MMJ JO - Mymensingh Med J VL - 23 IS - 1 N2 - Neu-Laxova syndrome (NLS) is a rare lethal syndrome found in both consanguinous and non-consanguinous couple. This is characterized by terrible face with unusual craniofacial appearance with exophthalmos, spectrum of central nervous system malformation, like microcaphaly, hypoplastic cerebellum, cleft lip/palate, ichthyosis and oedema. The diagnosis is made on the basis of clinical parameter. We report a 4 hour old male term newborn with IUGR of Neu-Laxova syndrome presented with anencephaly, rudimentary cerebellum, exophthalmos of right eye, bilateral cleft lip and palate and cryptorchidism. Anencephaly and cryptorchidism are two recently reported findings of NLS. We are presenting this case in addition from Bangladesh to lend further support to those two new findings as component of Neu-Laxova syndrome. Outcome of this syndrome is not good. Most of the patients are died of infection within hours to days. SN - 1022-4742 UR - https://www.unboundmedicine.com/medline/citation/24584393/Neu_Laxova_syndrome:_a_case_report_ L2 - http://www.diseaseinfosearch.org/result/5153 DB - PRIME DP - Unbound Medicine ER -