TY - JOUR
T1 - Musculoskeletal deformities in Behr syndrome
AU - Copeliovitch, Leonel
AU - Katz, Kalman
AU - Arbel, Nili
AU - Harries, Netta
AU - Bar-On, Elhanan
AU - Soudry, Michael
PY - 2001
Y1 - 2001
N2 - Seventeen children with Behr syndrome were investigated, focusing on the musculoskeletal deformities and long-term outcome. Behr syndrome is characterized by optic atrophy beginning in early childhood associated with ataxia, spasticity, mental retardation, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade. In 70% of the patients, contractures developed in the lower limbs, requiring surgery mainly for the Achilles tendon, hamstrings, and adductor longus. At last follow-up at an average age of 21.7 years (range, 8-31 years), 13 of the patients are housebound walkers, 2 are nonfunctional walkers, and 2 are nonwalkers.
AB - Seventeen children with Behr syndrome were investigated, focusing on the musculoskeletal deformities and long-term outcome. Behr syndrome is characterized by optic atrophy beginning in early childhood associated with ataxia, spasticity, mental retardation, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade. In 70% of the patients, contractures developed in the lower limbs, requiring surgery mainly for the Achilles tendon, hamstrings, and adductor longus. At last follow-up at an average age of 21.7 years (range, 8-31 years), 13 of the patients are housebound walkers, 2 are nonfunctional walkers, and 2 are nonwalkers.
KW - Behr syndrome
KW - Musculoskeletal manifestation
UR - http://www.scopus.com/inward/record.url?scp=0034964098&partnerID=8YFLogxK
U2 - 10.1097/01241398-200107000-00018
DO - 10.1097/01241398-200107000-00018
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AN - SCOPUS:0034964098
SN - 0271-6798
VL - 21
SP - 512
EP - 514
JO - Journal of Pediatric Orthopaedics
JF - Journal of Pediatric Orthopaedics
IS - 4
ER -