Am J Med Genet. 1991 Oct 1;41(1):30-1.

Neu Laxova syndrome in two Egyptian families.

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Human Genetics Department, National Research Center, Cairo, Egypt.

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.

PMID:: 1951459; [PubMed - indexed for MEDLINE]

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The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib. [Am J Med Genet. 1987]
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Tolmie JL, Mortimer G, Doyle D, McKenzie R, McLaurin J, Neilson JP. Am J Med Genet. 1987 May; 27(1):175-82.
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Neu Laxova syndrome in two Egyptian families.

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