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Goldenhar-associated conditions (hemifacial microsomia) and congenital deformities of the spine.

Abstract：

STUDY DESIGN:We performed a retrospective study of 668 consecutive patients with congenital spine deformities. OBJECTIVES:To determine the prevalence of Goldenhar conditions in patients with congenital spine deformities, and describe the types of vertebral abnormalities and their treatment. SUMMARY OF BACKGROUND DATA:The craniofacial malformations described by Goldenhar can be associated with congenital vertebral anomalies. This nonrandom association represents unilateral errors in the morphogenesis of the spine, the first and second branchial arches. METHODS:The medical records were reviewed, and patients with Goldenhar conditions were identified. The vertebral anomalies causing spine deformity were detected on radiographs. The type and site of the craniofacial abnormalities, other musculoskeletal deformities, and systemic anomalies were recorded. RESULTS:There were 14 patients, including 7 males and 7 females, who had Goldenhar conditions. Thoracic scoliosis was the most common deformity, occurring in 10 patients (71.5%). Of these patients, 8 had an isolated hemivertebra, and the remaining 2 had a unilateral unsegmented bar with contralateral hemivertebra at the same level. There was only 1 patient with lumbar scoliosis caused by a hemivertebra. The side of vertebral anomaly correlated with that of hemifacial microsomia in 5 of 11 patients with scoliosis or kyphoscoliosis. Thoracolumbar kyphosis occurred in 4 patients, including 2 who had posterior hemivertebrae, 1 who had wedge vertebrae, and the remaining who had an anterior unsegmented bar. Thoracolumbar kyphoscoliosis occurred in only 1 patient because of a posterolateral quadrant vertebra. Klippel-Feil syndrome occurred in 6 patients (42.8%). There were 8 patients (57%) who underwent surgical treatment at a mean age of 9.8 years (range 2.9-19). Four patients had undergone a combined anterior-posterior, and 4 had a posterior-only spine arthrodesis. CONCLUSIONS:The prevalence of Goldenhar-associated conditions in patients with congenital spine deformities was 2%. Failures of vertebral segmentation were the most frequent abnormality in the cervical spine, whereas failures of vertebral formation most commonly occurred in the thoracic or thoracolumbar spine.

journal_name

Spine (Phila Pa 1976)

journal_title

Spine

authors

Tsirikos AI,McMaster MJ

doi

10.1097/01.brs.0000219876.45640.2a

subject

Has Abstract

pub_date

2006-06-01 00:00:00

pages

E400-7

issue

eissn

0362-2436

issn

1528-1159

pii

00007632-200606010-00025

journal_volume

pub_type

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Goldenhar-associated conditions (hemifacial microsomia) and congenital deformities of the spine.