Nielsen's syndrome

Alternative eponyms

Related people

Obsolete eponym used to indicate a combination of Klippel-Feil syndrome (congenital brevicollis) and Bonnevie-Ullrich syndrome (pterygium colli).

Description

Obsolete eponym used to indicate a combination of Klippel-Feil syndrome (congenital brevicollis) and Bonnevie-Ullrich syndrome (pterygium colli). Characteristics are short stature, blepharoptosis, cleft palate, abnormal fusion of the vertebrae, pterygium colli, and camptodactyly. Transmitted as an X-linked dominant trait.

The first description was made by Herman Nielsen in 1934. E. Moldenhauer [dermatologist, Rostock], in 1964 described 3 affected women in 3 generations. Probably autosomal dominant inheritance with variable expressivity.

Bibliography

  • H. Nielsen:
    Brevicollis congenita.
    Hospitalstidende, Copenhagen, 1934, 77: 409-431.
  • E. Moldenhauer:
    Zur Klinik des Nielsen-Syndroms.
    Dermatologische Wochenschrift, Hamburg, 1964, 49: 594-601.

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