Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate

DOI Web Site Web Site 被引用文献2件
  • Maria Luisa Navarro Sanchez
    Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA
  • Renata H. Benjamin
    Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA
  • Laura E. Mitchell
    Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA
  • Peter H. Langlois
    Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA
  • Mark A. Canfield
    Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA
  • Michael D. Swartz
    Department of Biostatistics and Data Science, UTHealth School of Public Health, Houston, TX, USA
  • Angela E. Scheuerle
    Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA
  • Daryl A. Scott
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
  • Hope Northrup
    Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA
  • Christian P. Schaaf
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
  • Joseph W. Ray
    Department of Pediatrics, Division of Medical Genetics and Metabolism, University of Texas Medical Branch, Galveston, TX, USA
  • Scott D. McLean
    Clinical Genetics Section, The Children’s Hospital of San Antonio, San Antonio, TX, USA
  • Han Chen
    Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA
  • Philip J. Lupo
    Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA
  • A.J. Agopian
    Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA

説明

<jats:sec><jats:title>Objective:</jats:title><jats:p> To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry. </jats:p></jats:sec><jats:sec><jats:title>Design:</jats:title><jats:p> We used data from the Texas Birth Defects Registry for deliveries between 1999 and 2014 to Texas residents, including 1884 cases with cleft palate (CP) and 5289 cases with cleft lip with or without cleft palate (CL±P) without a known syndrome. We identified patterns of defects co-occurring with CP and with CL±P observed more frequently than would be expected if these defects occurred independently. We calculated adjusted observed-to-expected ( O/ E) ratios to account for the known tendency of birth defects to cluster nonspecifically. </jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p> Among infants without a syndrome, 23% with CP and 21% with CL±P had at least 1 additional congenital anomaly. Several combinations of defects were observed much more often than expected. For example, the combination of CL±P, congenital hydrocephaly, anophthalmia, and other nose anomalies had an O/ E ratio of 605. For both CP and CL±P, co-occurrence patterns with the highest O/ E ratios involved craniofacial and brain abnormalities, and many included the skeletal, cardiovascular, and renal systems. </jats:p></jats:sec><jats:sec><jats:title>Conclusions:</jats:title><jats:p> The patterns of defects we observed co-occurring with clefts more often than expected may help improve our understanding of the relationships between multiple defects. Further work to better understand some of the top defect combinations could reveal new phenotypic subgroups and increase our knowledge of the developmental mechanisms that underlie the respective defects. </jats:p></jats:sec>

収録刊行物

被引用文献 (2)*注記

もっと見る

問題の指摘

ページトップへ