Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation

Background: Congenitalpelvicskeletalanomalies(CPSA)mayappearasisolateddefectsorinassociationwith otheranomalieslikecongenitalmalformationsofthedigestivesystem(CMDS).MinorCPSAinnon-syndromic patientsareoftenoverlooked. WeaimedtoassessthefrequencyofCPSAinnewbornswithCMDStoreviewthediagnosticapproaches. Study design: A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatalindicationswasconducted.In122patientsCMDSwerediagnosedandclassifiedaccordingtotheICD10classification;79non-CMDSpatientsactedascontrols.PelvicskeletalsegmentswereexaminedbyX-rays. Results: Patients with CMDS, showed a higher risk of CPSA (Odds ratio 2.89; 95% CI 1.34 6.23) and other associatedmalformationsincomparisontonon-CMDSpatients.NewbornswithmalformationsofthelargeintestinehavethehighestriskofadjacentCPSA(48%),asitisadevelopmentaldefectoriginatingfromthesame somite.Inadditiontoskeletalagenesis/hypoplasia,wereporteddysmorphicandbifidvertebras,tridentileum, andelongatedneuralarches. Conclusions: ThehighincidenceofCPSAinCMDSsuggestsperformingaroutineradiographicpelvicevaluation in cases of CMDS in order to identify complex phenotypes that could originate from the same developmental field.