Author/Authors :
Shawley, Rabah M Ain Shams University - Department of Pediatrics, Egypt , Fateen, Ekram M National Research Center - Department of Biochemical Genetics, Egypt , Zaghloul, Mohammad S Ain Shams University - Department of Pediatrics, Egypt , Salem, Amany A Ain Shams University - Medical Genetics Center, Egypt
Abstract :
The present work comprised 30 patients belonging to 27 families. The age of the studied patients ranqed from 7months to 10 years (mean 43.9±27.69 months).The age of onset of the disease ranged from 7 months to 5 years (mean17.26 ± 13.3 months). All patients suffered from developmental delay or progressive loss of previously acquired milestones, with no coarse facial features, organomegaly or ectodermal abnormality.
