Literature DB >> 9098491

Elejalde syndrome: a case report.

C M Thornton1, F Stewart.   

Abstract

Elejalde syndrome is a rare condition comprising a high birth weight, swollen globular body, a short neck with redundant skin folds, postaxial polydactyly, omphalocele, enlarged liver and kidneys, and renal dysplasia. The syndrome, also known as acrocephalopolydactylous dysplasia, is thought to be an autosomal recessive trait. We report on a liveborn infant with this condition.

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Year:  1997        PMID: 9098491     DOI: 10.1002/(sici)1096-8628(19970414)69:4<406::aid-ajmg13>3.0.co;2-r

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


  1 in total

1.  A new lethal syndrome of exomphalos, short limbs, and macrogonadism.

Authors:  L Faivre; A L Delezoide; F Narcy; F Razavi; R Bouvier; V Cormier-Daire; M L Briard; S Lyonnet; M Vekemans; A Munnich; M Le Merrer
Journal:  J Med Genet       Date:  1999-02       Impact factor: 6.318

  1 in total

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