Pauline C Schut1, Alex J Eggink2, Margo Boersma2, Dick Tibboel3, René M H Wijnen3, Erwin Brosens4, Marjolein H G Dremmen5, Titia E Cohen-Overbeek2. 1. Department of Obstetrics and Gynecology, Division of Obstetrics and Fetal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. p.schut@erasmusmc.nl. 2. Department of Obstetrics and Gynecology, Division of Obstetrics and Fetal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. 3. Department of Pediatric Surgery, Erasmus University Medical Center Sophia Children's Hospital, Rotterdam, The Netherlands. 4. Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. 5. Department of Pediatric Radiology, Erasmus University Medical Center Sophia Children's Hospital, Rotterdam, The Netherlands.
Abstract
BACKGROUND: In mammals the vertebral column has a constant pattern, particularly in the cervical region, which is likely the result of stabilizing selection. The prevalence of cervical ribs and extended vertebral pattern abnormalities is increased in deceased fetuses and neonates and associated with structural and chromosomal anomalies. The hypothesized close interaction between vertebral patterning and organogenesis in early embryogenesis could be studied in children with esophageal atresia and anorectal malformations by evaluating the radiographs of the vertebral column and the type and number of associated anomalies METHODS: The vertebral pattern of 367 children diagnosed with an esophageal atresia (n = 135), anorectal malformation (n = 215), or both (n = 17) was assessed on radiographs. RESULTS: The vertebral pattern was abnormal in 170/202 (84.2%) children in whom this could be assessed, and cervical ribs were present in 147/335 (43.9%). Extended vertebral pattern abnormalities became more frequent with an increasing number of associated structural abnormalities. Cervical ribs were particularly common in children with chromosomal and genetic abnormalities (18/20, 90.0%). CONCLUSIONS: Cervical ribs are frequent and abnormal vertebral patterns are more extended in the presence of associated anomalies. These findings support the hypothesized selection against vertebral patterning variations and emphasize the relevance of assessment of the vertebral pattern.
BACKGROUND: In mammals the vertebral column has a constant pattern, particularly in the cervical region, which is likely the result of stabilizing selection. The prevalence of cervical ribs and extended vertebral pattern abnormalities is increased in deceased fetuses and neonates and associated with structural and chromosomal anomalies. The hypothesized close interaction between vertebral patterning and organogenesis in early embryogenesis could be studied in children with esophageal atresia and anorectal malformations by evaluating the radiographs of the vertebral column and the type and number of associated anomalies METHODS: The vertebral pattern of 367 children diagnosed with an esophageal atresia (n = 135), anorectal malformation (n = 215), or both (n = 17) was assessed on radiographs. RESULTS: The vertebral pattern was abnormal in 170/202 (84.2%) children in whom this could be assessed, and cervical ribs were present in 147/335 (43.9%). Extended vertebral pattern abnormalities became more frequent with an increasing number of associated structural abnormalities. Cervical ribs were particularly common in children with chromosomal and genetic abnormalities (18/20, 90.0%). CONCLUSIONS: Cervical ribs are frequent and abnormal vertebral patterns are more extended in the presence of associated anomalies. These findings support the hypothesized selection against vertebral patterning variations and emphasize the relevance of assessment of the vertebral pattern.
Authors: Pauline C Schut; Erwin Brosens; Tom J M Van Dooren; Frietson Galis; Clara M A Ten Broek; Inge M M Baijens; Marjolein H G Dremmen; Dick Tibboel; Martin P Schol; Annelies de Klein; Alex J Eggink; Titia E Cohen-Overbeek Journal: Birth Defects Res Date: 2020-08-04 Impact factor: 2.344