Brief clinical report: GMS syndrome: A new dominant condition with goniodysgenesis, mental retardation, and short stature

G. S. Kupchik; M. D. Ludman; E. L. Raab; F. Gilbert

doi:10.1002/ajmg.1320420102

Brief clinical report: GMS syndrome: A new dominant condition with goniodysgenesis, mental retardation, and short stature

G. S. Kupchik, M. D. Ludman, E. L. Raab, F. Gilbert

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1-4
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	42
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320420102
State	Published - 1992
Externally published	Yes

Keywords

Rieger eye anomaly
X-linked
dominant inheritance
microcephaly

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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.",

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Brief clinical report: GMS syndrome: A new dominant condition with goniodysgenesis, mental retardation, and short stature

Abstract

Keywords

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