| Literature DB >> 1951459 |
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.Entities:
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Year: 1991 PMID: 1951459 DOI: 10.1002/ajmg.1320410109
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299