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.
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Authors | P Volcke, D Soekarman, P Vandenbussche, J Haegeman, E Smeets, P Thiry, J P Fryns |
Journal | Genetic counseling (Geneva, Switzerland)
(Genet Couns)
Vol. 4
Issue 1
Pg. 47-50
( 1993)
ISSN: 1015-8146 [Print] Switzerland |
PMID | 8471221
(Publication Type: Journal Article)
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Topics |
- Adult
- Aged
- Brain
(abnormalities)
- Dandy-Walker Syndrome
(diagnosis, genetics)
- Dwarfism
(diagnosis, genetics)
- Female
- Humans
- Hydrocephalus
(diagnosis, genetics)
- Intellectual Disability
(diagnosis, genetics)
- Male
- Skull
(abnormalities)
- Syndrome
- Tomography, X-Ray Computed
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