Title of article :
Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease
Author/Authors :
shawky, r.m. Ain Shams University - pediatric department, genetics unit, Egypt , elabd, h.s.a.e. Ain Shams University - pediatric department, genetics unit, Egypt , gamal, r. Ain Shams University - pediatric department, genetics unit, Egypt , mohammad, s.a. Ain-Shams University - radio diagnosis department, Egypt , gad, s. Ain Shams University - pediatric department, genetics unit, Egypt
Abstract :
We report a 7 year old female child with the classical triad of Meier-Gorlin syndrome (MGS),(microtia,absent patella and short stature). She had the characteristic facial features,with normal mentality and defective speech,skeletal abnormalities,conductive hearing loss,cystitis and normal growth hormone level. She suffered from recurrent chest infection during the first year of life which improved gradually with age. Although congenital heart is rarely observed in MGS,our patient had in addition fenestrated interatrial septal defect. © 2014.
Keywords :
Absent patella , Ear , patella , short stature syndrome , Meier , Gorlin syndrome , Microtia , Primordial dwarfism
Journal title :
Egyptian Journal of Medical Human Genetics
Journal title :
Egyptian Journal of Medical Human Genetics
