Bonnevie-Ullrich syndrome
Related people
Congenital syndrome consisting of webbing of the neck (pterygium colli), lymphoedema of the hands and feet, hypoplasia of bones and muscles, short stature, syndactyly, laxity of the skin, dystrophic nails, and motor disturbances of the cranial nerves.
Description
Congenital syndrome consisting of webbing of the neck (pterygium colli), lymphoedema of the hands and feet, hypoplasia of bones and muscles, short stature, syndactyly, laxity of the skin, dystrophic nails, and motor disturbances of the cranial nerves. Aetiology unknown. Inheritance either X-linked or autosomal dominant. The syndrome is similar to the Klippel-Feil and Noonan syndromes.
Bibliography
- O. Ullrich:
Über typische Kombinationsbilder multipler Abartungen.
Zeitschrift für Kinderheilkunde, Berlin, 1930, 49: 271-276. - K. Bonnevie:
Embryological analysis of gene manifestation in Little and Bagg's abnormal mouse tribe.
Journal of Experimental Zoology, New York, 1934, 67: 443-520.
