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Neu-Laxova Syndrome: An Unusual Association with Kyphosis.
Turk Patoloji Derg. 2018; 34(3):259-261.TP

Abstract

The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis. Skin histology showed hyperkeratosis, edema and increased subcutaneous fat suggestive of ichthyosis. On the basis of gross and microscopic features seen, a diagnosis of Neu-Laxova syndrome was made.

Authors+Show Affiliations

Department of Pathology, KLE University, Belgaum, Karnataka, India.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

28272663

Citation

Kaur, Amandeep, et al. "Neu-Laxova Syndrome: an Unusual Association With Kyphosis." Turk Patoloji Dergisi, vol. 34, no. 3, 2018, pp. 259-261.
Kaur A, Suranagi V, Patil K, et al. Neu-Laxova Syndrome: An Unusual Association with Kyphosis. Turk Patoloji Derg. 2018;34(3):259-261.
Kaur, A., Suranagi, V., Patil, K., & Bannur, H. (2018). Neu-Laxova Syndrome: An Unusual Association with Kyphosis. Turk Patoloji Dergisi, 34(3), 259-261. https://doi.org/10.5146/tjpath.2015.01353
Kaur A, et al. Neu-Laxova Syndrome: an Unusual Association With Kyphosis. Turk Patoloji Derg. 2018;34(3):259-261. PubMed PMID: 28272663.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neu-Laxova Syndrome: An Unusual Association with Kyphosis. AU - Kaur,Amandeep, AU - Suranagi,Vijayalaxmi, AU - Patil,Kamal, AU - Bannur,Hema, PY - 2017/3/9/pubmed PY - 2018/12/12/medline PY - 2017/3/9/entrez SP - 259 EP - 261 JF - Turk patoloji dergisi JO - Turk Patoloji Derg VL - 34 IS - 3 N2 - The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis. Skin histology showed hyperkeratosis, edema and increased subcutaneous fat suggestive of ichthyosis. On the basis of gross and microscopic features seen, a diagnosis of Neu-Laxova syndrome was made. SN - 1309-5730 UR - https://www.unboundmedicine.com/medline/citation/28272663/Neu_Laxova_Syndrome:_An_Unusual_Association_with_Kyphosis_ L2 - http://dx.doi.org/10.5146/tjpath.2015.01353 DB - PRIME DP - Unbound Medicine ER -