Neu Laxova syndrome in two Egyptian families.Am J Med Genet. 1991 Oct 01; 41(1):30-1.AJ
Abstract
We report on 2 Egyptian girls from 2 families with 8 affected relatives, 4 in each family. The 2 propositae had unusual facial appearance, severe microcephaly, generalized edema, contractures of limbs, and generalized ichthyotic skin lesions. Findings in the present 2 patients were compared with those in previously reported cases of Neu Laxova syndrome. In our cases, consanguinity, affected sibs, and affected cousins were noted. Autosomal recessive inheritance and lethality are emphasized. A high frequency of the Neu Laxova syndrome in Egyptians is suspected as a result of the increased consanguinity rate.
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
1951459
Citation
Abdel Meguid, N, and S A. Temtamy. "Neu Laxova Syndrome in Two Egyptian Families." American Journal of Medical Genetics, vol. 41, no. 1, 1991, pp. 30-1.
Abdel Meguid N, Temtamy SA. Neu Laxova syndrome in two Egyptian families. Am J Med Genet. 1991;41(1):30-1.
Abdel Meguid, N., & Temtamy, S. A. (1991). Neu Laxova syndrome in two Egyptian families. American Journal of Medical Genetics, 41(1), 30-1.
Abdel Meguid N, Temtamy SA. Neu Laxova Syndrome in Two Egyptian Families. Am J Med Genet. 1991 Oct 1;41(1):30-1. PubMed PMID: 1951459.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Neu Laxova syndrome in two Egyptian families.
AU - Abdel Meguid,N,
AU - Temtamy,S A,
PY - 1991/10/1/pubmed
PY - 1991/10/1/medline
PY - 1991/10/1/entrez
SP - 30
EP - 1
JF - American journal of medical genetics
JO - Am J Med Genet
VL - 41
IS - 1
N2 - We report on 2 Egyptian girls from 2 families with 8 affected relatives, 4 in each family. The 2 propositae had unusual facial appearance, severe microcephaly, generalized edema, contractures of limbs, and generalized ichthyotic skin lesions. Findings in the present 2 patients were compared with those in previously reported cases of Neu Laxova syndrome. In our cases, consanguinity, affected sibs, and affected cousins were noted. Autosomal recessive inheritance and lethality are emphasized. A high frequency of the Neu Laxova syndrome in Egyptians is suspected as a result of the increased consanguinity rate.
SN - 0148-7299
UR - https://www.unboundmedicine.com/medline/citation/1951459/Neu_Laxova_syndrome_in_two_Egyptian_families_
DB - PRIME
DP - Unbound Medicine
ER -