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Klippel-Feil deformity

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Congenital anomaly characterized by a reduced number of cervical vertebrae or multiple hemivertebrae fused into a single osseous mass, producing a short and wide neck with limited motion. A low hairline is another constant characteristic.

A long list of associated features includes torticollis, facial asymmetry, scoliosis and kyphosis; difficulty in breathing and swallowing, cleft palate, micrognathia, mental retardation, deafness, strabismus, nystagmus, spastic quadriplegia, synkinesis, ataxia, anaesthesia, paraesthesia, and various muscle abnormalities.

Females prevalently affected (65%). The severe form of this syndrome is known as iniencephaly. When associated with the Bonnevie-Ullrich syndrome, it is called the Nielsen disease. The aetiology is unknown. Autosomal dominant or recessive disorder with various degree of penetrance.

Victor Albrecht von Haller (1708-1777) in 1743 and Giovanni Battista Morgagni (1682-1771) in 1746 described the anatomic features of the condition. It was probably first described in 1893 by Sir Jonathan Hutchinson (1828-1913) and Klippel-Feil in 1912 gave a comprehensive interpretation of the subject.

Nielsen’s syndrome is a combination of Klippel-Feil syndrome and Bonnevie-Ullrich syndrome (pterygium colli).


  • A. von Haller:
    Icones anatomicae quibus praecipuae aliquae partes corporis humani delineatae proponutur et arterianum potissimum historia continuatr.
    8 parts, Gottingae, A. Vandenhoeck, 1743-1756.
  • M. Klippel, A. Feil:
    Un cas d'absence des vertèbres cervicales avec cage thoracique remontant jusqu’ à la base du crâne (cage thoracique cervicale).
    Nouvelle iconographie de la Salpêtrière, Paris, 1912; 25: 223-250.
    English translation in Bick, Classics of Orthopaedics, 511-516.

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