Literature DB >> 1519643

Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome?

W Hardikar1, A L Smith, C G Keith, C W Chow.   

Abstract

A number of systemic abnormalities associated with cholestasis have been reported in the literature. This paper describes two unrelated patients with cholestasis and an unusual constellation of abnormalities including cleft palate/lip, hydronephrosis/hydroureter, retinal pigmentation, and intestinal septum.

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Mesh：

Year:  1992        PMID： 1519643     DOI： 10.1002/ajmg.1320440105

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


  2 in total

1.  Kabuki make-up syndrome.

Authors:  M L Kulkarni; Sudarshan K Shetty; V K Chandrasekar; Preethi M Kulkarni
Journal:  Indian J Pediatr       Date:  2004-09       Impact factor: 1.967

2.  MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.

Authors:  Nishitha R Pillai; Dana Miller; Grace Bronken; Amrita Kahlon Salunke; Anjali Aggarwal
Journal:  Am J Med Genet A       Date:  2022-04-06       Impact factor: 2.578
  2 in total

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