Literature DB >> 1951459

Neu Laxova syndrome in two Egyptian families.

N Abdel Meguid1, S A Temtamy.   

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.

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Year:  1991        PMID: 1951459     DOI: 10.1002/ajmg.1320410109

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

Review 1.  Prenatal Diagnosis of Neu-Laxova Syndrome.

Authors:  Adriana Serrano Olave; Alba Padín López; María Martín Cruz; Susana Monís Rodríguez; Isidoro Narbona Arias; Jesús S Jiménez López
Journal:  Diagnostics (Basel)       Date:  2022-06-23
  1 in total

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