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

Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case

“…Here we present the first known Iranian MGS patient, and as far as we know 6th case in the middle east[ 4 , 6 , 7 , 9 ]. MGS is a rare autosomal recessive disorder also known as ear-patella-short stature syndrome [1] .…”

“…Eight different genetic mutations are known to be associated with MGS; each mutation is responsible for a type of syndrome. These 8 genes are responsible for DNA replication, and among them all, ORC1 mutations cause the most severe form of growth failure[ 3 , 7 ]. As yet, patients with ORC1 mutation have not shown any improvement to growth hormone (GH) therapy.…”

“…As yet, patients with ORC1 mutation have not shown any improvement to growth hormone (GH) therapy. Therefore, unknown underlying molecular defects were deemed to cause global growth retardation rather than GH deficiency [7] . However, the hypothesis is not confirmed by molecular studies and there is a doubt about the gene effects.…”

Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

“…Three cases of cardiovascular involvement have been described. 1,2 Intelligence is usually preserved, but motor and/or language development is delayed. 1,[3][4][5][6] Meier-Gorlin syndrome is a genetically heterogeneous disease.…”

“…Three cases of cardiovascular involvement have been described. 1 , 2 Intelligence is usually preserved, but motor and/or language development is delayed. 1 , 3–6…”