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Premature aging and immunodeficiency: Mulvihill-Smith syndrome?

✍ Scribed by Ohashi, Hirofumi ;Tsukahara, Masato ;Murano, Ichiro ;Fujita, Kyoko ;Matsuura, Shinya ;Fukushima, Yoshimitsu ;Kajii, Tadashi

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 661 KB
Volume: 45
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320450516

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✦ Synopsis

We report on a 30-year-old woman with premature aging, immunodeficiency, and other abnormalities. She had many manifestations of the Mulvihill-Smith syndrome, a disorder that has been described in 4 sporadic individuals, ranging in age from 4 to 17 years. The common manifestations include short stature, microcephaly, a senile face with an underdeveloped lower half, diminished facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and a low IgG level.

Our patient also had severe mental retardation, brachydactyly, severe T cell dysfunction, and suffered from severe verruca vulgaris and a chronic, active Epstein-Barr virus infection. The fact that her parents were first cousins suggests autosomal recessive inheritance of her disorder. Two alternative possibilities were considered: the disorder in the patient represents the Mulvihill-Smith syndrome with immune deficiency as a sign of its advanced stage, or a hitherto undescribed syndrome.

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