Klippel-feil syndrome (congenital brevicollis; synostosis of cervical vertebra) 6

General: Autosomal recessive inheritance; females more com 151f51b monly affected; progressive paraplegia may develop late in life.

Ocular: Esotropia; hypertropia combined with torticollis; occasional horizontal nystagmus.

Clinical: Platybasia; congenital upward displacement of scapula (Sprengel deformity); brevicollis; immobility of neck (painless); low posterior hairline; peculiar facies; cleft palate; short stature; congenital brevicollis; vertebral abnormalities; autosomal dominant mode of inheritance has been reported .

Brik M, Athayde A. Bilateral Duane's syndrome, paroxysmal lacrimation and Klippel-Feil anomaly. Ophthalmologica

Klippel LM, Feil A. Anomalie de la Colonne Vertebrale par l'Absence des Vertebrales Cervicales; Cage Thoracique Remontant Jusqua la Base du Crane. Bull Soc Anat (Paris)

Mathieu M, et al. A familial syndrome with micrognathia, cleft palate, short neck, and stature, vertebral anomalies and mental retardation. Genet Couns 1993; 4:299-303.