Case Report: Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease

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.

Keywords Meier-Gorlin syndrome; Ear-patella-short stature syndrome; Primordial dwarfism; Microtia; Absent patella