Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/16823

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题名:	Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome
作者:	陳持平;Chen, Chih-Ping
贡献者:	生物科技學系
关键词:	"Hutchinson-Gilford progeria syndrome;LMNA;Oral and craniofacial phenotypes;Radiology."
日期:	2012-03
上传时间:	2012-11-23 09:17:24 (UTC+0)
摘要:	"Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome: We report an 8½-year-old girl with premature aging, a karyotype of 46,XX and a de novo c.1824C>T mutation encoding p.G608G in the lamin A gene. The clinical features of accelerated aging and the molecular finding were consistent with the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS). In this presentation, we demonstrate the radiological imaging findings of skeletal, oral and craniofacial phenotypes of abnormalities associated with HGPS. The oral and craniofacial abnormalities caused dental caries, severe malocclusion, and swallowing, feeding and speech problems. Dural calcification, and granulation in the ear drum and external ear canal were additionally observed."
關聯:	GENETIC COUNSELING
显示于类别:	[生物科技學系] 期刊論文

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