Deafness and the Klippel-Feil Syndrome

McLay, K.; Maran, A. G. D.

doi:10.1017/s0022215100070195

Cited by 47 publications

(5 citation statements)

References 2 publications

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“…Mandibulofacial dysostosis (31) Nephritis and sensorineural hearing loss (32) Osteitis deformans ( 34 ) Osteopetrosis (37) Retinitis pigmentosa and congenital sensorineural hearing loss (38) Third and fourth pharyngeal pouch syndrome DiGeorge syndrome 'The numbers in parentheses Indicate the disease as it Is listed in the classification system In the first section of this paper.…”

Section: Methodsmentioning

confidence: 99%

Congenital Anomalies of the Inner Ear Introducing a New Classification of Labyrinthine Anomalies

Suehiro¹,

Sando²

1979

Ann Otol Rhinol Laryngol

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In a literature review of 108 articles a special effort was made to find and classify inner ear anomalies and diseases associated with inner ear anomalies. This study showed the following. Most of the diseases associated with inner ear anomalies are also associated with anomalies in other parts of the body. Hereditary characteristics comprise the most common etiological factor among the diseases associated with inner ear anomalies. Among anomalies observed in the cochlea, the vestibule, and the semicircular canals, anomalies in the cochlea are most frequently associated with various diseases and were observed in 30 of 43 diseases. Anomalies of the vestibule were observed in 25 diseases, and those of the semicircular canals in 18 diseases. Anomalies in both the osseous and the membranous labyrinth were most frequently associated with the diseases studied, as they were observed to occur with 10 of the 43 diseases. In this paper a new classification system for labyrinthine anomalies is introduced, based on this study of the literature.( HL) -Hearing loss detected or supposed to be concomitant with the disease.(D) -Dominant hereditary diseases reported.(R) -Recessive hereditary diseases reported.

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Section: Methodsmentioning

confidence: 99%

Congenital Anomalies of the Inner Ear Introducing a New Classification of Labyrinthine Anomalies

Suehiro¹,

Sando²

1979

Ann Otol Rhinol Laryngol

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show abstract

“…Deafness has been said to be the second most common anomaly associated with the syndrome (Palant and Carter, 1972;Stark and Borton, 1973;McLay and Maran, 1969). There is histological and x-ray evidence that the structure of the inner ear is abnormal (Palant and Carter, 1972).…”

Section: Pterygium Syndromementioning

confidence: 99%

Pterygium syndrome.

Gillin¹,

Pryse-Davis²

1976

Journal of Medical Genetics

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“…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.…”

mentioning

confidence: 99%

“…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 Received for publication 10 June 1981 Methods A total of 59 members of the family, including all living affected persons (11), were clinically examined and radiological studies were performed in eight patients. The other three refused to submit to x-ray examination.…”

mentioning

confidence: 99%

Autosomal recessive Klippel-Feil syndrome

Silva

1982

Journal of Medical Genetics

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Deafness and the Klippel-Feil Syndrome

Cited by 47 publications

References 2 publications

Congenital Anomalies of the Inner Ear Introducing a New Classification of Labyrinthine Anomalies

Congenital Anomalies of the Inner Ear Introducing a New Classification of Labyrinthine Anomalies

Pterygium syndrome.

Autosomal recessive Klippel-Feil syndrome

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