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
From page
393
To page
398
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
Record number
2721104
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