A Neonate with De Novo 4p-Syndrome from a Smoking Mother

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Title:	A Neonate with De Novo 4p-Syndrome from a Smoking Mother
Authors:	Ng), 黃元韻(Yan-Yan Su, Pen-Hua Chen), Jia-Yuh Chen, Suh-Jen Hu, Jui-Ming Quek, Yeak-Wun
Contributors:	中山醫學大學
Keywords:	沃夫－賀許宏氏症,第四對染色體短臂缺失,菸癮母親;Wolf-Hirschhorn syndrome,chromosome 4p deletion,maternal smoking
Date:	2008
Issue Date:	2015-05-25T10:33:29Z (UTC)
Abstract:	沃夫－賀許宏氏症(Wolf-Hirschhorn syndrome, WHS)或稱第四對染色體短臂缺失症候群，特徵包括妊娠早期出現嚴重生長遲緩，小頭異常以及顏面異常。本篇報告一名重菸癮產婦生下的沃夫－賀許宏氏症新生兒。該新生兒在妊娠28週時就發現有嚴重生長遲緩。出生後發現他的顏面特徵包含雙眼閉合不全、眼距過寬、額骨明顯隆起、下彎似魚之嘴以及短上唇與人中。染色體檢查顯示該嬰是女性核型合併4p缺失，其斷點位於p15.3。許多證據顯示懷孕過程中抽菸會增加子宮內胎兒生長遲滯的危險。在此，我們回顧懷孕時母親抽菸的致畸效應。 Wolf-Hirschhorn syndrome, also known as chromosome 4p deletion syndrome or 4p-syndrome, is characterized by severe growth retardation of prenatal onset, microcephaly and facial dysmorphism. Herein we present a neonate with Wolf-Hirschhorn syndrome who was born to a mother who smoked heavily. Severe IUGR was diagnosed at 28 weeks of gestation. After birth, the baby had characteristic facial features including lagophthalmos, hypertelorism, a prominent glabella, a down-turned and fishlike mouth, and a short upper lip and philtrum. Cytogenetic analysis revealed a female karyotype with a 4p deletion with a breakpoint at p15.3. There is abundant evidence that smoking during pregnancy is associated with an increased risk of intrauterine growth retardation (IUGR). Herein, we have briefly reviewed the teratogenic effect of maternal smoking during pregnancy.
URI:	https://ir.csmu.edu.tw:8080/ir/handle/310902500/10890
Relation:	中山醫學雜誌 19卷2期(2008/12) p279-286
Appears in Collections:	[醫學系] 期刊論文

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