Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004.
Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004.
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DOI：
10.1002/ajmg.a.32854
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发表时间：
2009-06
影响因子：
2
通讯作者：
Rasmussen, Sonja A.
中科院分区：
文献类型：
--
作者：
Genisca, Alicia E.;Frias, Jaime L.;Broussard, Cheryl S.;Honein, Margaret A.;Lammer, Edward J.;Moore, Cynthia A.;Shaw, Gary M.;Murray, Jeffrey C.;Yang, Wei;Rasmussen, Sonja A.
口面裂是最常见的出生缺陷类型之一，但其临床表现尚未在地理上多样化的美国人群中得到很好的描述。为了描述非综合征性唇腭裂的出生患病率和表型，我们使用了国家出生缺陷预防研究（NBDPS）的数据，NBDPS是一项多地点、基于人群的病例对照研究，旨在确定出生缺陷的遗传和环境风险因素。该研究包括1997-2004年出生的唇裂（CL）、唇裂伴腭裂（CLP）或腭裂（CP）婴儿。与公认的单基因疾病、染色体异常、前脑无裂畸形或羊膜带序列相关的婴儿被排除。共有3，344名婴儿患有非综合征性口面裂，包括751名CL，1，399名CLP和1，194名CP，出生患病率估计分别为0.3/1，000活产，0.5/1，000活产和0.4/1，000活产。在患有CLP的婴儿中，单侧与双侧受累的婴儿约为2倍，而CL单侧与双侧受累的婴儿超过10倍。参与最多的是左侧。约四分之一的CP患儿有Pierre Robin序列。超过80%的婴儿有一个孤立的口面裂。在CL或CLP婴儿中，最常见的是心脏、肢体和肌肉骨骼缺陷，而在CP婴儿中，最常见的是心脏、肢体和中枢神经系统缺陷。更好地了解出生患病率和表型可能有助于指导临床护理，以及有助于提高对发病机制的理解。
Orofacial clefts are among the most common types of birth defects, but their clinical presentation has not been well described in a geographically diverse US population. To describe the birth prevalence and phenotype of nonsyndromic clefts, we used data from the National Birth Defects Prevention Study (NBDPS), a multi-site, population-based, case-control study aimed at identifying genetic and environmental risk factors for birth defects. Included in the study were infants born during 1997-2004 with a cleft lip (CL), cleft lip with cleft palate (CLP), or cleft palate (CP). Infants with clefts associated with recognized single-gene disorders, chromosome abnormalities, holoprosencephaly, or amniotic band sequence were excluded. A total of 3,344 infants with nonsyndromic orofacial clefts were identified, including 751 with CL, 1,399 with CLP, and 1,194 with CP, giving birth prevalence estimates of 0.3, 0.5, and 0.4/1,000 live births, respectively. Among infants with CLP where cleft laterality was specified, about twice as many had unilateral vs. bilateral involvement, while for CL there were over 10 times as many with unilateral vs. bilateral involvement. Involvement was most often left-sided. About one-quarter of infants with CP had Pierre Robin sequence. Over 80% of infants had an isolated orofacial cleft. Among infants with CL or CLP, heart, limb, and musculoskeletal defects were most commonly observed, while heart, limb, and central nervous system defects were most common among infants with CP. Better understanding of the birth prevalence and phenotype may help guide clinical care as well as contribute to an improved understanding of pathogenesis.
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影响因子：
--
作者：
Nopoulos, Peg;Langbehn, Douglas R.;Richman, Lynn
通讯作者：
Richman, Lynn
影响因子：
0.9
作者：
Stelnicki, EJ;Hoffman, WY;Longaker, MT
通讯作者：
Longaker, MT
影响因子：
8
作者：
Botto, LD;Correa, A;Erickson, JD
通讯作者：
Erickson, JD
DOI：
10.1001/archpedi.1991.02160110105032
发表时间：
1991-11-01
影响因子：
--
作者：
MILI, F;EDMONDS, LD;MCCLEARN, AB
通讯作者：
MCCLEARN, AB
影响因子：
30.8
作者：
Rahimov, Fedik;Marazita, Mary L.;Visel, Axel;Cooper, Margaret E.;Hitchler, Michael J.;Rubini, Michele;Domann, Frederick E.;Govil, Manika;Christensen, Kaare;Bille, Camille;Melbye, Mads;Jugessur, Astanand;Lie, Rolv T.;Wilcox, Allen J.;Fitzpatrick, David R.;Green, Eric D.;Mossey, Peter A.;Little, Julian;Steegers-Theunissen, Regine P.;Pennacchio, Len A.;Schutte, Brian C.;Murray, Jeffrey C.
通讯作者：
Murray, Jeffrey C.