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Macrocephaly and mental retardation. The unique association with short stature, spastic paraplegia and CNS
P Volcke1, D Soekarman, P Vandenbussche
1Centre for Human Genetics, University of Leuven, Belgium.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1993
Abstract:
During a systematic clinical genetic survey of the institutionalized moderately to severely mentally retarded we had the occasion to examine two nonrelated adult patients who presented a similar MCA/MR syndrome: 1) macrocephaly (OFC > 60 cm) with high and broad forehead and contrasting relative midfacial hypoplasia; 2) short stature with small and broad hands and feet; 3) neurological symptoms of a variable degree of spastic paraplegia and severe CNS malformations on CT-scan i.e. internal hydrocephalus and Dandy-Walker variant malformation.