单词 | bonnevie-ullrich syndrome |
释义 | Bonnevie-Ullrich syndromeBonnevie-Ullrich syndromeA 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 coarctationBonnevie-Ullrich syndromeA 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.Ullrich,Otto, German physician, 1894-1957. |
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