Premium
Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment
Author(s) -
Armour Christine M.,
Humphreys Peter,
Hennekam Raoul C.M.,
Boycott Kym M.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33003
Subject(s) - dysarthria , brachydactyly , spastic , medicine , spasticity , physical medicine and rehabilitation , paraplegia , psychology , pediatrics , audiology , cerebral palsy , spinal cord , psychiatry , short stature
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. © 2009 Wiley‐Liss, Inc.