Autosomal recessive Klippel-Feil syndrome.

In 1912, Klippel and Feill reported the first clinical details and necropsy findings of a syndrome characterised by the triad short or absent neck, severe limitation of head movement, and low posterior hairline. An Egyptian mummy (from 500 BC) is the oldest subject in whom Klippel-Feil syndrome has been seen.2 Another interesting observation is the similarity between the figure of an old man depicted by the English painter William Blake (1757-1827) and the appearance of persons with Klippel-Feil syndrome.3 The incidence of the syndrome is estimated at about 1 in 42 000 births.4 Some authors have suggested that males and females are equally afflicted,"6 but others have reported a higher incidence in one or the other sex.7 The main anomalies associated with this syndrome are Sprengel's deformity, spina bifida (especially of the cervical spine), deafness (especially of the sensorineural type), scoliosis or kyphoscoliosis, and pterygium colli. Many less common abnormalities are found with Klippel-Feil syndrome, involving the musculoskeletal, nervous, gastrointestinal, urogenital, cardiovascular, and respiratory systems, and oral and dermatological manifestations are also found. In some of these associations, Klippel-Feil syndrome is only part of a wider and better delineated syndrome, as in Wildervanck syndrome'10 and in the syndrome described more recently in two unrelated females by Park et all' (Klippel-Feil deformity, conductive deafness, and absent vagina). Klippel-Feil syndrome has also been reported in association with Rokitansky-Kuster-Hauser,'2 3 Duane,14 and fetal alcohol'516 syndromes. This study of an inbred kindred from the northeast of Brazil with 12 cases of Klippel-Feil syndrome clearly establishes an autosomal recessive mode of inheritance for the syndrome.