Short stature, craniofacial dysmorphism and dento‐skeletal abnormalities in a large kindred

C. Parloir, J. P. Fryns, J. Deroover, E. Lebas, P. Goffaux, Herman Van den Berghe

Clinical Genetics · 1977 · 16 citations · 1 references

Concepts

Abstract

A possibly new mental retardation syndrome is described in a large family. The major features of the syndrome are: short statue, craniofacial dysmorphism and dento-skeletal abnormalities. The mode of inheritance of this syndrome appears to be autosomal dominant with a variable degree of expressivity. The possible similarity to another autosomally dominant inherited mental retardation syndrome, "the K.B.G. syndrome" as described by Hermann et al. (1975), is discussed.

References

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