Bonnevie-Ullrich syndrome


Bonnevie-Ullrich syndrome

A genetic disorder in ♀ characterized by lack of an X chromosome Clinical Webbing of neck, short stature, retarded development of 2º sex characteristics, absent menses, infertility, coarctation of aorta, low hairline, eye defects–drooping eyelids, skeletal deformities Management Estrogen supplements at puberty; hGH replacement; surgical correction of coarctation

Bonnevie-Ullrich syndrome

A condition similar to TURNER'S SYNDROME but affecting males. The chromosome constitution (karyotype) is often normal. There is short stature, webbing of the neck, an abnormally broad face with wide-set eyes (hypertelorism), drooping lids (ptosis), low-set ears, LYMPHOEDEMA and malformation of the urinary system. (K. Bonnevie, 1872–1950, American geneticist; and O. Ullrich, 1894–1957 German paediatrician).

Bonnevie,

Kristine, German physician, 1872-1950. Bonnevie-Ullrich syndrome - characteristics include hand and foot lymphedema, short stature, skin laxity.

Ullrich,

Otto, German physician, 1894-1957. Bonnevie-Ullrich syndrome - see under BonnevieMorquio-Ullrich disease - Synonym(s): Morquio syndromeUllrich drill guardUllrich forcepsUllrich laminectomy retractorUllrich self-retaining retractorUllrich tubing clamp