Open AccessMeier-Gorlin syndrome: Report of an additional patient with congenital heart disease
Author(s) -
Rabah M. Shawky,
Heba Salah Abd-Elkhalek Elabd,
Radwa Gamal,
Shaimaa Abdelsattar Mohammad,
Shaimaa Gad
Publication year - 2014
Publication title -
the egyptian journal of medical human genetics /the egyptian journal of medical human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.253
H-Index - 17
eISSN - 2090-2441
pISSN - 1110-8630
DOI - 10.1016/j.ejmhg.2014.04.003
Subject(s) - medicine , short stature , microtia , pediatrics , heart disease , surgery , cardiology
We report a 7year 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