Maria Luisa Navarro Sanchez1, Renata H Benjamin1, Laura E Mitchell1, Peter H Langlois2, Mark A Canfield2, Michael D Swartz3, Angela E Scheuerle4, Daryl A Scott5,6, Hope Northrup7, Christian P Schaaf5,8,9, Joseph W Ray10, Scott D McLean11, Han Chen1,12, Philip J Lupo13, A J Agopian1. 1. Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX, USA. 2. Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA. 3. Department of Biostatistics and Data Science, UTHealth School of Public Health, Houston, TX, USA. 4. Department of Pediatrics, Division of Genetics and Metabolism, 49219University of Texas Southwestern Medical Center, Dallas, TX, USA. 5. Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA. 6. Department of Molecular Physiology and Biophysics, 3989Baylor College of Medicine, Houston, TX, USA. 7. Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, 8193University of Texas Health Science Center at Houston, Houston, TX, USA. 8. Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA. 9. Heidelberg University, Institute of Human Genetics, Heidelberg, Germany. 10. Department of Pediatrics, Division of Medical Genetics and Metabolism, University of Texas Medical Branch, Galveston, TX, USA. 11. Clinical Genetics Section, The Children's Hospital of San Antonio, San Antonio, TX, USA. 12. Center for Precision Health, UTHealth School of Public Health and UTHealth School of Biomedical Informatics, Houston, TX, USA. 13. Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA.
Abstract
OBJECTIVE: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry. DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.
OBJECTIVE: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry. DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.
Authors: April L Dawson; Sarah C Tinker; Denise J Jamieson; Charlotte A Hobbs; R J Berry; Sonja A Rasmussen; Marlene Anderka; Kim M Keppler-Noreuil; Angela E Lin; Jennita Reefhuis Journal: J Epidemiol Community Health Date: 2016-06-20 Impact factor: 3.710
Authors: Philip J Lupo; A J Agopian; Renata H Benjamin; Angela E Scheuerle; Daryl A Scott; Maria Luisa Navarro Sanchez; Peter H Langlois; Mark A Canfield; Hope Northrup; Christian P Schaaf; Joseph W Ray; Scott D McLean; Han Chen; Michael D Swartz Journal: Pediatr Res Date: 2021-06-30 Impact factor: 3.953