Chaumien J P, Rigault P, Maroteaux P, Padovani J P, Touzet P
Hôpital des Enfants Malades.
Rev Chir Orthop Reparatrice Appar Mot. 1990;76(1):30-8.
Eighteen cases presenting Klippel-Feil syndrome were reviewed. Clinical and radiological criteria were analyzed: short neck, severe restriction of motion, and low posterior hairline which make up the classical clinical triad. Radiological abnormalities of the cervical spine included: a reduction in the number of cervical vertebrae, fused vertebral blocks (16 cases), cervical spine-bifida occulta, spinal dysraphism (12 cases). Other cervical vertebral disorders have been added which complete the original description: cervico-thoracic abnormalities (12 cases), craniocervical junction abnormalities (7 cases) and also thoraco lumbar abnormalities (5 cases). Although this syndrome is essentially descriptive, orthopaedic complications may occur: scoliosis (9 cases) of which only two had an increasing deformity and required posterior spine stabilisation; cervico-occipital instabilities (2 cases) which although rare, should be sought out with care because they can have serious consequences; Sprengel's deformities (7 cases) which did not warrant operative intervention. The Klippel-Feil syndrome, Wilderwanck syndrome, and Goldenhar syndrome are all close descriptive entities, and have limited surgical consequences.
回顾了18例呈现Klippel-Feil综合征的病例。分析了临床和放射学标准:短颈、严重活动受限以及低后发际线,这构成了典型的临床三联征。颈椎的放射学异常包括:颈椎数量减少、椎体融合(16例)、颈椎隐性脊柱裂、脊柱裂(12例)。还补充了其他颈椎疾病,完善了最初的描述:颈胸段异常(12例)、颅颈交界区异常(7例)以及胸腰段异常(5例)。尽管该综合征本质上是描述性的,但可能会出现骨科并发症:脊柱侧弯(9例),其中只有2例畸形进展,需要进行后路脊柱稳定手术;颈枕部不稳定(2例),虽然罕见,但应仔细排查,因为可能会产生严重后果;Sprengel畸形(7例),无需手术干预。Klippel-Feil综合征、Wilderwanck综合征和Goldenhar综合征都是密切相关的描述性实体,手术后果有限。