Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia?
Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia?: In this report, we describe a 30-year-old female with mental retardation, spastic paresis, epilepsy, macrocephaly and distinct craniofacial appearance. Probably, she suffers from the same condition as the two sibs described by Fryns et al., in 1994 (2).
Moog
U
U
Department of Clinical Genetics, University Maastricht, The Netherlands.
Schoonbrood-Lenssen
A M
AM
Schrander-Stumpel
C T
CT
Fryns
J P
JP
D000328:Adult; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005260:Female; D006257:Head / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D010264:Paraplegia / Q000473:pathology*