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Bonnevie-ullrich syndrome

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Bonnevie-ullrich syndrome

(Science: syndrome) a rare genetic disorder in women that is characterised by the absence of an x chromosome.

this disorder inhibits normal sexual development and causes infertility. Features include webbing of the neck, short stature, retarded development of secondary sex characteristics, absence of menses, coarctation of the aorta, low hairline, eye abnormalities (drooping eyelids) and skeletal deformities.

treatment include oestrogen supplementation at puberty. Growth hormone replacement may be necessary in some cases. Cardiac surgery may be necessary to correct coarctation of the aorta.

Incidence: 1 in 3000 births.