A case of Kabuki (Niikawa‐Kuroki) syndrome associated with manifestations resembling C‐trigonocephaly syndrome
Identifieur interne : 008C79 ( Main/Exploration ); précédent : 008C78; suivant : 008C80A case of Kabuki (Niikawa‐Kuroki) syndrome associated with manifestations resembling C‐trigonocephaly syndrome
Auteurs : Grace David [Australie] ; David Sillence [Australie] ; Robert Hardwick [Australie] ; John M. Opitz [États-Unis]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2004-11-01.
Abstract
We report a 2‐year‐old boy with overlapping manifestations of the Kabuki (Niikawa–Kuroki) and Opitz trigonocephaly syndromes. The proband was initially diagnosed with Opitz trigonocephaly syndrome on the basis of metopic craniosynostosis, upslanting palpebral fissures, high arched palate, redundant skin folds at the back of the neck, ventricular septal defect, broad flat thumbs, bilateral single palmar creases, left talipes equinovarus, eventration of right hemidiaphragm, and bilateral inguinal hernia. However, as he grew older, his facial profile changed to that typical of Kabuki syndrome. © 2004 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.20599
Affiliations:
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