Klippel-Feil syndrome: a case report and current understanding of molecular genetic background.

ABSTRACT

A case of Klippel-Feil syndrome in a 12-year-old boy presentingwith the features of low set posterior hairline, short webbed neck, scoliosis and Sprengel's deformity associated with upper eyelid coloboma and pre-auricular appendages is described. Radiologically there was evidence of maldeveloped cervical and upper thoracic vertebrae associated with elevated scapula. The association of the eyelid defect and pre-auricular appendages has not been documented in the past. The current literatures based on the recent advances in understanding of molecular genetic control over embryonic development of the cervical spines were reviewed.