Macrocephaly and mental retardation. The unique association with short stature, spastic paraplegia and CNS malformations.

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.

• 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)

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