title: Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment.
abstract: Fitzsimmons syndrome is an infrequently described entity comprising slowly progressive spastic paraplegia, brachydactyly, and cone-shaped epiphyses, dysarthria, and low-normal intelligence. Five patients with this syndrome have been reported. The cause remains unknown. Here we describe a 16-year-old boy with Fitzsimmons syndrome. He was noted to toe-walk at age 18 months and spasticity progressed slowly into a spastic gait with contractures. He has mild dysarthria and hypernasal speech. Brachydactyly is notable but cannot be classified into one of the recognized types. A cone-shaped epiphysis was apparent on the only available childhood radiograph. He has moderate cognitive handicap and pervasive developmental delay. A detailed comparison of this patient with the earlier described cases is presented to further delineate the condition and increase awareness of this syndrome.
authors.affiliation: Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
authors.forename: Christine M
authors.initials: CM
authors.lastname: Armour
authors.forename: Peter
authors.initials: P
authors.lastname: Humphreys
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
authors.forename: Kym M
authors.initials: KM
authors.lastname: Boycott
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D003072:Cognition Disorders / Q000150:complications*; D005532:Foot Deformities, Congenital / Q000150:complications*; D006801:Humans; D008297:Male; D010264:Paraplegia / Q000150:complications*; D013577:Syndrome