American Journal of Medical Genetics 42:1-4 (1992)
Brief Clinical Report
GMS Syndrome: A New Dominant Condition With Goniodysgenesis, Mental Retardation, and Short Stature Gabriel S. Kupchik, Mark D. Ludman, Edward L. Raab, and Fred Gilbert Division of Medical Genetics, Departments of Pediatrics ( G S X . , M.D.L., F.G.) and Ophthalmology (E.L.R.), Mount Sinai School of Medicine, New York
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.
KEY WORDS: Rieger eye anomaly, dominant inheritance, X-linked, microcephaly
noted. Physical findings (Fig. 1) included proportionate short stature (height, 150 cm [
Brief Clinical Report
GMS Syndrome: A New Dominant Condition With Goniodysgenesis, Mental Retardation, and Short Stature Gabriel S. Kupchik, Mark D. Ludman, Edward L. Raab, and Fred Gilbert Division of Medical Genetics, Departments of Pediatrics ( G S X . , M.D.L., F.G.) and Ophthalmology (E.L.R.), Mount Sinai School of Medicine, New York
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.
KEY WORDS: Rieger eye anomaly, dominant inheritance, X-linked, microcephaly
noted. Physical findings (Fig. 1) included proportionate short stature (height, 150 cm [
