Abstract
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.
Highlights
Meier-Gorlin syndrome (MGS) is included in a group of disorders known as primordial dwarfism
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, bilateral microtia and patellar aplasia/hypoplasia [2]
Mutations in five different pre-replication complex genes (ORC1, ORC4, ORC6, CDT1, and CDC6) crucial in cell-cycle progression and growth were identified in 67% of patients with MGS described in the literature [5,6]
Summary
Meier-Gorlin syndrome (MGS) is included in a group of disorders known as primordial dwarfism These disorders share similar characteristics including skeletal malformations, growth deficiency in the intrauterine period as well as during infancy and childhood, resulting in varying degrees of short stature. Mutations in ATR, which functions during replication can cause Seckel syndrome, a clinically related disorder These findings suggest that impaired DNA replication could underlie the developmental defects which characterize these disorders [7]. ORC1-deficient cells from MGS patients and siRNA-mediated depletion of origin licensing proteins have impaired centrosome and centriole copy number. We report the first Egyptian patient with MGS, who had many typical features of the syndrome, in addition to congenital heart disease after taking consent of the parents
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