GMS syndrome: a new dominant condition with goniodysgenesis, mental retardation, and short stature.
We describe a mother and daughter with a distinct phenotype that is different from previous reports. This is likely to constitute a new syndrome for which we propose the mnemonic GMS for G goniodysgenesis, M mental deficiency, and S short stature. The pattern of occurrence is compatible with either autosomal dominant or X-linked inheritance.
Kupchik
G S
GS
Department of Pediatrics, Mount Sinai School of Medicine, New York.
Ludman
M D
MD
Raab
E L
EL
Gilbert
F
F
D000328:Adult; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome