| Literature DB >> 9286458 |
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.Entities:
Mesh:
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