Macrocephaly and mental retardation. The unique association with short stature, spastic paraplegia and CNS malformations.
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.
Volcke
P
P
Centre for Human Genetics, University of Leuven, Belgium.
Soekarman
D
D
Vandenbussche
P
P
Haegeman
J
J
Smeets
E
E
Thiry
P
P
Fryns
J P
JP
D000328:Adult; D000368:Aged; D001921:Brain / Q000002:abnormalities*; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000235:genetics*; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed