Literature DB >> 3538874

Campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia.

W A Cumming, A Ohlsson, A Ali.   

Abstract

An aborted fetus, the offspring of consanguineous parents, had the unusual combination of campomelia, cervical lymphocele, polycystic kidneys, pancreas, and liver, short gut, and polysplenia. Births of earlier similarly affected fetuses suggest an autosomal recessive inheritance. Skeletal, lymphatic, and renal lesions were seen at 26 weeks' gestation by ultrasonography, but not at 16 weeks.

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Year:  1986        PMID: 3538874     DOI: 10.1002/ajmg.1320250416

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


  2 in total

Review 1.  Hyperechoic kidneys in the newborn and young infant.

Authors:  T L Slovis; J Bernstein; A Gruskin
Journal:  Pediatr Nephrol       Date:  1993-06       Impact factor: 3.714

2.  Renal, pancreatic and hepatic dysplasia sequence.

Authors:  D Carles; F Serville; J P Dubecq; J M Gonnet
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

  2 in total

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