Ullrich-Nielsen syndrome

(Nielsen's syndrome) (Dystrophia brevicollis congenita)

 Ullrich-Nielsen syndrome

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.

More details:  📖 Genetics: Analysis and Principles 6th Edition

Herman Nielsen (1882-1960), Danish clinician.

Otto Ullrich (1894-1957), German paediatrician.

Otto Ullrich

One of the founders of clinical genetics in Germany making contributions to syndromic delineation and dysmorphology. Eponymously remembered for his description of Ullrich-Turner syndrome (1930).

Similar articles

[The pterygium syndrome; status Bonnevie-Ullrich, dystrophia brevicollis congenita, Turner's syndrome and congenital arthromyodysplasia].

ROSSI E, CAFLISCH A.

Helv Paediatr Acta. 1951 Apr;6(2):119-48.

PMID: 14831862 Undetermined Language. No abstract available.

[Pterygium colli in a boy, with associated Turner and Klippel-Feil syndromes].

MARTIN CA.

Laval Med. 1947 May;12(5):461-75.

PMID: 20242908 French. No abstract available.

[A distinct occurrence of the Klippel-Feil syndrome in association with symptoms of the Ullrich syndrome].

Blankenburg H.

Beitr Orthop Traumatol. 1968;15(9):536-8.

PMID: 5716794 German. No abstract available.

[Pterygium colli and multiple congenital malformations, Klippel-Feil syndrome].

TAVARES A.

Arq Cir Clin Exp. 1955 Oct-Dec;39(323):83-4.

PMID: 13328589 Portuguese. No abstract available.

Turner's syndrome.

Ranke MB, Saenger P.

Lancet. 2001 Jul 28;358(9278):309-14. doi: 10.1016/S0140-6736(01)05487-3.

PMID: 11498234 Review.