Literature DB >> 9286458

Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis.

F Cools1, J Jaeken.   

Abstract

We present a child with a remarkable constellation of abnormalities comprising cleft lip and palate, pigmentary retinopathy, hydronephrosis, malrotation of the gut and obstructive liver disease. This patient, together with two other reported cases, seems to represent a new syndrome with some similarities to the Kabuki syndrome.

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Year:  1997        PMID: 9286458     DOI: 10.1002/(sici)1096-8628(19970905)71:4<472::aid-ajmg19>3.0.co;2-d

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


  1 in total

1.  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

  1 in total

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