Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.
METHODS
Prospective assessment of a cohort of patients affected by spondylocostal dysostosis.


OBJECTIVE
To report on the results of conservative and operative management of spondylocostal dysostosis and, based on this, to propose an assessment and treatment protocol for the condition.


BACKGROUND
Spondylocostal dysostosis and spondylothoracic dysostosis are subtypes of Jarcho-Levin syndrome, a hereditary condition manifested by vertebral body and related rib malformations. Mortality prevails in spondylothoracic dysostosis because of more severe respiratory compromise.


METHODS
Details of prenatal and postnatal diagnosis, history, and management of 13 patients with spondylocostal dysostosis are presented. All patients were treated postnatally with repeated chest physiotherapy. Two patients refractory to conservative treatment underwent surgical intervention: the first had a chest wall reconstruction via a latissimus dorsi flap, the second a posterior spinal instrumented fusion for progressive scoliosis.


RESULTS
Prenatal ultrasound in 4 of 13 cases showed full details of vertebral and rib anomalies. Thoracic and lumbar hemivertebrae were most common, leading to congenital scoliosis in 10 of 13 cases. A number of extraskeletal abnormalities were also identified. At an average follow-up of 4.5 years, the survival rate was 100% with a remarkable decrease of the rate of respiratory complications. Surgical treatment in selected cases led to satisfactory results.


CONCLUSIONS
Prenatal diagnosis of spondylocostal dysostosis allows exclusion of spondylothoracic dysostosis and aids genetic counseling in quantifying the risk to siblings. Postnatally, prompt management of these patients with physiotherapy leads to prolonged survival. Surgical intervention may then be indicated to stabilize chest wall or spine deformities, with promising results.
Teli
Marco
M
Great Ormond Street Hospital for Sick Children, London, UK. marcoteli@hotmail.com
Hosalkar
Harish
H
Gill
Inder
I
Noordeen
Hilali
H
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics / Q000601:surgery / Q000628:therapy*; D019072:Antibiotic Prophylaxis; D001915:Braces; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003131:Combined Modality Therapy; D003241:Consanguinity; D018450:Disease Progression; D004413:Dysostoses / Q000150:complications / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics / Q000601:surgery / Q000628:therapy*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D026741:Physical Therapy Modalities; D011446:Prospective Studies; D012120:Respiration Disorders / Q000209:etiology / Q000628:therapy; D012141:Respiratory Tract Infections / Q000188:drug therapy / Q000209:etiology / Q000517:prevention & control; D012272:Ribs / Q000002:abnormalities* / Q000196:embryology / Q000601:surgery; D012600:Scoliosis / Q000151:congenital / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics / Q000601:surgery / Q000628:therapy*; D013123:Spinal Fusion; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D016896:Treatment Outcome; D016216:Ultrasonography, Prenatal