Okamoto syndrome in a girl of Caucasian origin.

Abstract excerpt

We report the clinical and genetic evaluation of a 2-year-old Greek female with striking phenotypic similarities to the three previously published cases of Okamoto syndrome. The main features were characteristic facies, cleft palate, generalized hypotonia, severe developmental delay, congenital hydronephrosis, and congenital heart defects. Routine chromosome testing and whole-genome high-resolution comparative...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Abnormalities, Multiple
• Share to Cleft Palate