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| Shprintzen-Goldberg syndrome ： ウィキペディア英語版 |
Shprintzen–Goldberg syndrome
Shprintzen–Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features. Several reports have linked the syndrome to a mutation in the ''FBN1'' gene, but these cases do not resemble those initially described in the medical literature in 1982 by Shprintzen and Goldberg, and Greally et al. in 1998 failed to find a causal link to FBN1. At this time, the cause of Shprintzen–Goldberg syndrome remains uncertain. The syndrome is rare with fewer than 50 cases described in the medical literature to date.
==References==
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
■ウィキペディアで「Shprintzen–Goldberg syndrome」の詳細全文を読む
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