Analysis of component findings in 79 patients diagnosed with VACTERL association

Abstract

VACTERL association is a relatively common condition, though the causes remain poorly understood. We present data on 79 patients diagnosed with VACTERL association, and perform statistical analysis on a selected subset of 60 patients with at least three component features, and who, after review, did not meet criteria for a likely alternate diagnosis. Considered individually, no two component features are significantly associated, but several multivariate statistical techniques suggest novel patterns of the co-occurrence of component features, and latent class cluster analysis demonstrates the presence of five major subgroups of patients. These findings have implications for both our understanding of VACTERL association and for the approach to research involving this condition.

Occurrence of radial club hand in children with different syndromes

“…Описанные в литературе по-ражения сердца в виде дефекта межжелудочковой перегородки и открытого артериального протока, характерные для синдрома Холта -Орама, также преобладали в наших клинических наблюдениях [19,[22][23]. Наиболее тяжелым по наличию сопут-ствующей патологии являлся VACTERL-синдром, в особенности у детей с полным симптомоком-плексом [21].…”

“…Выпуск 4. 2015 вого луча кисти, лучевой кости, преаксиальной полидактилией, синдактилией; е) аномалии почек (53 %) в виде агенезии почек, дисплазии, гидро-нефроза [13,20,21].…”

Etiopathogenesis of sirenomelia, on the framework of a case report

“…Günümüzde ise sirenomeli KRS'den patofizyolojisinin farklı olması nedeniyle ayrı bir grup olabileceği tartışılmaktadır. Halen mekanizması bilinmemekle beraber hipoksi ve erken vaskü-ler yapıdaki değişikliklere bağlı mekanizma VACTERL [7] ve sirenomeliye neden olabilirken, çeşitli ilaçlar ve annedeki diyabet gibi embiryopatik etkiler ise KRS ve sakrokoksigeal anomali birlikteliğini oluşturmaktadır. [8] Sirenomeli'de yarık damak, yarık dudak, özofagus atrezisi, renal agenezi, mesane, üreter, üretra, rektum, sakrum yokluğu ve anorektal agenezi sık bildirilen anomalilerdir.…”

Tetralogy of Fallot with Scimitar syndrome in VACTERL: a very rare association

“…The most common cardiac anomalies seen in VACTERL are ventricular septal defect (VSD), atrial septal defect and tetralogy of Fallot (TOF). [1][2][3][4] Although Scimitar syndrome (cardiac malformations) represents one of six component features of the VACTERL association, it is possible that this association might have been overlooked. Our patient presented with an extremely rare combination of TOF and Scimitar syndrome in VACTERL association.…”