1. GMS syndrome: A new dominant condition with goniodysgenesis, mental retardation, and short stature
- Author
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M.D. Gabriel S. Kupchik, Fred Gilbert, Mark D. Ludman, and Edward L. Raab
- Subjects
Adult ,GMS syndrome ,Microcephaly ,Pediatrics ,medicine.medical_specialty ,media_common.quotation_subject ,Dwarfism ,Biology ,Short stature ,Pregnancy ,Goniodysgenesis ,Intellectual Disability ,Internal medicine ,medicine ,Humans ,Eye Abnormalities ,Growth Disorders ,Genetics (clinical) ,Genes, Dominant ,media_common ,Daughter ,Syndrome ,medicine.disease ,Mental deficiency ,Phenotype ,Endocrinology ,Child, Preschool ,Female ,Dominant inheritance ,medicine.symptom - Abstract
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.
- Published
- 1992
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