Noonan综合征6例综合报告

NOONAN SYNDROME: COMPREHENSIVE REPORT OF 6 CASES

6例Noonan综合征中,男性5例,女性1例。临床表现有身材矮小、智力低下、先天性心脏病、蹼颈、颈短、鼻梁宽、后发际低、高腭弓、乳间距宽、低位耳、鸡胸等。其中1例新生儿表现为全身和手足背水肿,头颅CT检查有脑萎缩和脑发育不全。染色体检查分析均为正常染色体核型。本综合征表现型似Turner综合征,但染色体核型正常,可发生于男或女性,属常染色体显性遗传。文内对Noonan综合征的临床、诊断、鉴别诊断和预后等作了讨论。

Six pediatric cases of Noonan syndrome are reported. Among the 6 cases, 5 were male and 1 female. The characteristic clinical manifestations included small stature, mental retardation, congenital heart disease, webbed neck, short neck, broad nose, low hairline, high arch palate, wide-spaced nipples, low set of ears, pigeon chest and lymphedema on the back of hands and feet. Normal karyotype was identified in the above patients. Noonan syndrome is named as XX and XY Turner phenotype. Familial examples consistent with autosomal dominant transmission are described.