Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation. (February 2020)

• Record Type: Journal Article
• Authors: Schierz, Ingrid Anne Mandy; Pinello, Giuseppa; Piro, Ettore; Giuffrè, Mario; Cimador, Marcello; Corsello, Giovanni
• Is Part Of: Early human development. Volume 141(2020)
• Publication Date: 2020-02
• Subjects: CMDS congenital malformations of the digestive system -- CPSA congenital pelvic skeletal anomalies -- ICD-10 International Classification of Diseases 10th revision -- NICU neonatal intensive care unit -- VACTERL vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, limb abnormalities; Pelvic bones -- Musculoskeletal system -- Congenital abnormalities -- VACTERL association -- Radiography -- International classification of diseases; Fetus -- Periodicals; Neonatology -- Periodicals; Prenatal influences -- Periodicals; 612.65
• DOI: 10.1016/j.earlhumdev.2019.104945
• Languages: English
• ISSNs: 0378-3782

Abstract

Abstract: Background: Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. Study design: A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. Results: Patients with CMDS, showed a higher risk of CPSA (Odds ratio 2.89; 95% CI 1.34 6.23) and other associated malformations in comparison to non-CMDS patients. Newborns with malformations of the large intestine have the highest risk of adjacent CPSA (48%), as it is a developmental defect originating from the same somite. In addition to skeletal agenesis/hypoplasia, we reported dysmorphic and bifid vertebras, trident ileum, and elongated neural arches. Conclusions: The high incidence of CPSA in CMDS suggests performing a routine radiographic pelvic evaluation in cases of CMDS in order to identify complex phenotypes that could originate from the same developmental field. Highlights: Digestive system malformations are associated to congenital pelvic skeletal anomalies. Neonates with hindgut disorders have the highest risk of adjacent skeletal anomalies. Congenital pelvic skeletal anomalies may help to identify pathogenetic associations.