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Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature.
Pediatr Pathol Lab Med. 1995 Jan-Feb; 15(1):57-79.PP

Abstract

Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by ichthyosis, intrauterine growth retardation, microcephaly, short neck, central nervous system abnormalities, hypoplastic or atelectatic lungs, limb deformities, edema, polyhydramnios, and short umbilical cord. Abnormal facial features include sloping forehead, hypertelorism, severe ectropion, proptosis, malformed ears, flat nose, and micrognathia. A necropsy study of a male infant with Neu-Laxova syndrome is described. Cleft palate and ambiguous external genitalia were present in addition to anomalies characteristic of Neu-Laxova syndrome. The clinical manifestations are compared with those of the 40 previously reported cases.

Authors+Show Affiliations

Department of Pathology, University of South Alabama, Mobile 36617, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

8736598

Citation

King, J A., et al. "Neu-Laxova Syndrome: Pathological Evaluation of a Fetus and Review of the Literature." Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated With the International Paediatric Pathology Association, vol. 15, no. 1, 1995, pp. 57-79.
King JA, Gardner V, Chen H, et al. Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature. Pediatr Pathol Lab Med. 1995;15(1):57-79.
King, J. A., Gardner, V., Chen, H., & Blackburn, W. (1995). Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature. Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated With the International Paediatric Pathology Association, 15(1), 57-79.
King JA, et al. Neu-Laxova Syndrome: Pathological Evaluation of a Fetus and Review of the Literature. Pediatr Pathol Lab Med. 1995 Jan-Feb;15(1):57-79. PubMed PMID: 8736598.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature. AU - King,J A, AU - Gardner,V, AU - Chen,H, AU - Blackburn,W, PY - 1995/1/1/pubmed PY - 1995/1/1/medline PY - 1995/1/1/entrez SP - 57 EP - 79 JF - Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association JO - Pediatr Pathol Lab Med VL - 15 IS - 1 N2 - Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by ichthyosis, intrauterine growth retardation, microcephaly, short neck, central nervous system abnormalities, hypoplastic or atelectatic lungs, limb deformities, edema, polyhydramnios, and short umbilical cord. Abnormal facial features include sloping forehead, hypertelorism, severe ectropion, proptosis, malformed ears, flat nose, and micrognathia. A necropsy study of a male infant with Neu-Laxova syndrome is described. Cleft palate and ambiguous external genitalia were present in addition to anomalies characteristic of Neu-Laxova syndrome. The clinical manifestations are compared with those of the 40 previously reported cases. SN - 1077-1042 UR - https://www.unboundmedicine.com/medline/citation/8736598/Neu_Laxova_syndrome:_pathological_evaluation_of_a_fetus_and_review_of_the_literature_ L2 - http://www.diseaseinfosearch.org/result/5153 DB - PRIME DP - Unbound Medicine ER -