title: 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.
authors.affiliation: Department of Ophthalmology, RG Kar Medical College and Hospital, Kolkata 700004.
authors.forename: Amitava
authors.initials: A
authors.lastname: Das
authors.forename: Debabrata
authors.initials: D
authors.lastname: Das
authors.forename: Somnath
authors.initials: S
authors.lastname: Das
authors.forename: Biswarup
authors.initials: B
authors.lastname: Ray
authors.forename: Sabyasachi
authors.initials: S
authors.lastname: Bandyopadhyay
authors.forename: Asim
authors.initials: A
authors.lastname: Chakrabarti
authors.forename: Asim Kumar
authors.initials: AK
authors.lastname: Dey
mesh_terms: D002648:Child; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D008297:Male; D008967:Molecular Biology; D016896:Treatment Outcome