A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.
A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.
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DOI：
10.1080/09286586.2020.1862244
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发表时间：
2021-10
影响因子：
1.8
通讯作者：
Lupo PJ
中科院分区：
文献类型：
--
作者：
Schraw JM;Benjamin RH;Scott DA;Brooks BP;Hufnagel RB;McLean SD;Northrup H;Langlois PH;Canfield MA;Scheuerle AE;Schaaf CP;Ray JW;Chen H;Swartz MD;Mitchell LE;Agopian AJ;Lupo PJ
患有无眼症或小眼球症的婴儿经常会同时出现出生缺陷。尽管如此，关于这些孩子的出生缺陷模式的调查很少。这样的研究可能会发现新的多重畸形综合征，这可能会为未来对导致无眼球/小眼球的发育过程的研究提供信息，并帮助医生确定进一步的测试是否合适。这项研究包括德克萨斯州出生缺陷登记处在1999-2014年间发现的没有临床或染色体诊断的公认综合征的无眼症/小眼症病例。我们计算了涉及无眼症/小眼症的双向至五向出生缺陷组合的调整后的观察与预期比率，以估计这些组合是否比它们独立时的预期更频繁地发生。我们报告了在≥5个病例中观察到的组合。我们鉴定了653例符合条件的无眼球/小眼球患者(514例(79%)合并出生缺陷)，111例出生缺陷组合，其中双向组合44例，三向组合61例，四向组合6例，无五向组合。观察到的与预期比率最大的组合是涉及中枢神经系统(CNS)缺陷、头/颈缺陷和口裂的组合。我们还观察到涉及心血管和肌肉骨骼缺陷的多种组合。与以前的报告一致，我们观察到，被诊断为无眼症/小眼症的儿童有很大比例的出生缺陷是共生的。虽然这些缺陷中的一些可能是涉及无眼症/小眼症的序列的一部分(例如，中枢神经系统缺陷)，但其他组合可能指向尚未描述的易感性模式(例如，肌肉骨骼缺陷)。来自以人口为基础的出生缺陷登记的数据可能有助于加速发现以前没有特征的畸形综合征。
Infants with anophthalmia or microphthalmia frequently have co-occurring birth defects. Nonetheless, there have been few investigations of birth defects patterns among these children. Such studies may identify novel multiple malformation syndromes, which could inform future research into the developmental processes that lead to anophthalmia/microphthalmia and assist physicians in determining whether further testing is appropriate. This study includes cases with anophthalmia/microphthalmia identified by the Texas Birth Defects Registry from 1999–2014 without clinical or chromosomal diagnoses of recognized syndromes. We calculated adjusted observed-to-expected ratios for two- through five-way birth defect combinations involving anophthalmia/microphthalmia to estimate whether these combinations co-occur more often than would be expected if they were independent. We report combinations observed in ≥5 cases. We identified 653 eligible cases with anophthalmia/microphthalmia (514 [79%] with co-occurring birth defects), and 111 birth defect combinations, of which 44 were two-way combinations, 61 were three-way combinations, six were four-way combinations and none were five-way combinations. Combinations with the largest observed-to-expected ratios were those involving central nervous system (CNS) defects, head/neck defects, and orofacial clefts. We also observed multiple combinations involving cardiovascular and musculoskeletal defects. Consistent with previous reports, we observed that a large proportion of children diagnosed with anophthalmia/microphthalmia have co-occurring birth defects. While some of these defects may be part of a sequence involving anophthalmia/microphthalmia (e.g., CNS defects), other combinations could point to as yet undescribed susceptibility patterns (e.g., musculoskeletal defects). Data from population-based birth defects registries may be useful for accelerating the discovery of previously uncharacterized malformation syndromes.
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影响因子：
14.9
作者：
Köhler S;Vasilevsky NA;Engelstad M;Foster E;McMurry J;Aymé S;Baynam G;Bello SM;Boerkoel CF;Boycott KM;Brudno M;Buske OJ;Chinnery PF;Cipriani V;Connell LE;Dawkins HJ;DeMare LE;Devereau AD;de Vries BB;Firth HV;Freson K;Greene D;Hamosh A;Helbig I;Hum C;Jähn JA;James R;Krause R;F Laulederkind SJ;Lochmüller H;Lyon GJ;Ogishima S;Olry A;Ouwehand WH;Pontikos N;Rath A;Schaefer F;Scott RH;Segal M;Sergouniotis PI;Sever R;Smith CL;Straub V;Thompson R;Turner C;Turro E;Veltman MW;Vulliamy T;Yu J;von Ziegenweidt J;Zankl A;Züchner S;Zemojtel T;Jacobsen JO;Groza T;Smedley D;Mungall CJ;Haendel M;Robinson PN
通讯作者：
Robinson PN
影响因子：
2
作者：
Pineda-Alvarez, Daniel E.;Solomon, Benjamin D.;Muenke, Maximilian
通讯作者：
Muenke, Maximilian
DOI：
10.1002/ajmg.1320460302
发表时间：
1993-05-15
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
CIDECIYAN, D;RODRIGUEZ, MM;ABDENOUR, GE
通讯作者：
ABDENOUR, GE
DOI：
10.1002/ajmg.1320370213
发表时间：
1990-10-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
KHOURY, MJ;JAMES, LM;ERICKSON, JD
通讯作者：
ERICKSON, JD
影响因子：
4
作者：
Chassaing, Nicolas;Sorrentino, Susanna;Jabs, Ethylin Wang
通讯作者：
Jabs, Ethylin Wang