A D Soyer1, J R McConnell. 1. Department of Orthopaedic Surgery, Naval Medical Center, Portsmouth, Virginia, USA.
Abstract
STUDY DESIGN: This case report describes a 17-year-old male with Dubowitz syndrome in whom a progressive left thoracic scoliosis developed that required surgical correction. OBJECTIVE: Scoliosis associated with Dubowitz syndrome had not been previously described among the orthopedic manifestations of this rare syndrome. A review of the literature and the surgical treatment of this patient is presented. SUMMARY OF BACKGROUND DATA: Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, craniofacial abnormalities, eczematous skin rash, delayed skeletal maturation, and shortness of stature. The orthopedic manifestations of this condition primarily involve the hands and feet with brachyclinodactyly of the fifth finger and syndactyly of the second and third toes. Spinal deformity in these individuals is not well described in the literature. METHODS: Over a 2-year period, the patient's scoliosis progressed to 88 degrees, resulting in severe truncal imbalance without neurologic sequelae. A posterior spinal fusion with segment instrumentation alone was used to correct the deformity. RESULTS: After surgery, excellent restoration of spine sagittal and coronal plane alignment was achieved, resulting in improved sitting and standing balance. CONCLUSION: Patients with Dubowitz syndrome may be at risk of having a progressive, rigid scoliosis. These individuals may need to be observed over a prolonged period for the development of spinal deformity because of the potential for extended delay in skeletal maturation.
STUDY DESIGN: This case report describes a 17-year-old male with Dubowitz syndrome in whom a progressive left thoracic scoliosis developed that required surgical correction. OBJECTIVE:Scoliosis associated with Dubowitz syndrome had not been previously described among the orthopedic manifestations of this rare syndrome. A review of the literature and the surgical treatment of this patient is presented. SUMMARY OF BACKGROUND DATA: Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, craniofacial abnormalities, eczematous skin rash, delayed skeletal maturation, and shortness of stature. The orthopedic manifestations of this condition primarily involve the hands and feet with brachyclinodactyly of the fifth finger and syndactyly of the second and third toes. Spinal deformity in these individuals is not well described in the literature. METHODS: Over a 2-year period, the patient's scoliosis progressed to 88 degrees, resulting in severe truncal imbalance without neurologic sequelae. A posterior spinal fusion with segment instrumentation alone was used to correct the deformity. RESULTS: After surgery, excellent restoration of spine sagittal and coronal plane alignment was achieved, resulting in improved sitting and standing balance. CONCLUSION:Patients with Dubowitz syndrome may be at risk of having a progressive, rigid scoliosis. These individuals may need to be observed over a prolonged period for the development of spinal deformity because of the potential for extended delay in skeletal maturation.