title: Oesophageal atresia with cleft lip and palate: a marker for associated lethal anomalies?
abstract: An adverse association between oesophageal atresia (OA) and cleft lip-palate (3% incidence) has been reported. The present study analyses outcomes of this rare association at a UK paediatric surgical centre. Hospital charts of newborns diagnosed with OA were reviewed. Demographics, associated anomalies and prognostic classification (after Spitz 1994) were recorded. Mortality rates and causes of death were examined in OA babies with cleft lip-palate. Of 152 patients treated for OA, five babies (3%) had cleft lip-palate. All of these newborns had common variant OA-TEF and were Spitz group II category. Deaths occurred in 3 of 5 patients (60%) in the OA-cleft group compared to only 8 of 147 patients (5%) without clefts (p < 0.005; Fisher's exact test). OA-cleft non-survivors succumbed to tetralogy of Fallot (n = 2) and trisomy 18 (n = 1; treatment withdrawn). Both survivors with cleft lip-palate had features of the VACTERL sequence: one baby also had Goldenhaar syndrome, the other aortic coarctation. These children now attend mainstream school. Although high-quality survival is possible in OA with cleft lip-palate, this rare phenotype is associated with a substantially decreased survival. Rather than causing death directly, the combination of OA and cleft lip-palate appears to be a marker for further lethal anomalies.
authors.affiliation: Department of Paediatric Surgery, Division of Child Health, The Royal Liverpool Children's Hospital (Alder Hey), University of Liverpool, Eaton Road, Liverpool L12 2AP, UK. mdhanya@liverpool.ac.uk
authors.forename: D
authors.initials: D
authors.lastname: Mullassery
authors.forename: R S
authors.initials: RS
authors.lastname: Llewellyn
authors.forename: S L
authors.initials: SL
authors.lastname: Almond
authors.forename: E C
authors.initials: EC
authors.lastname: Jesudason
authors.forename: P D
authors.initials: PD
authors.lastname: Losty
mesh_terms: D000015:Abnormalities, Multiple / Q000401:mortality*; D002971:Cleft Lip / Q000401:mortality*; D002972:Cleft Palate / Q000401:mortality*; D004933:Esophageal Atresia / Q000401:mortality*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015996:Survival Rate; D006113:United Kingdom / Q000453:epidemiology