1.5 yr old male chil from a muslim family born of nonconsanguineous marriage was born by NVD at birth he had imperforate anus for which temporary colostomy was done ,he had deformation of both upper limbs. He then had h/o recurrent cough n colds with difficulty feeding and poor weight gain. He was brought to us at 1.5 yrs of age with c/o chest infection n inability to feed. child had 8 kg wt and symptoms of LRTI also ejection systolic murmur was heard along the left sternal border grade3. Child was evaluated and images are as above.. Child was diagnosed by us n prognosis explained.. what is the diagnosis ? its quite an easy one

7 Likes

LikeAnswersShare
VACTERL association *Vertebral anomalies-Scoliosis+ *Anal atresia- imperforate Anus+ *Cardiac defects-VSD(ejection systolic murmur in left sternal border)+ *Tracheoesophageal fistula+(feeding problem& Resp infections)/oesophageal atresia+ *Intestinal Malrotation+ *Renal anomaly? *Limb-Radial aplasia+
This baby as previously suggested is likely having VACTERL association... (Anorectal malformation, vertebral anomaly seen on x ray, limb defects present, cong heart disease).... history and symptoms suggests a left to right shunt probably a VSD... (although the x-ray is not exactly matching).... Needs an echo as well as a renal ultrasound...
Cardiac defect possibily Left to right shunt with VSD here , radial anamoly, Tracheooehophagel fistula limb defect
It's VACTERL GROUP OF anamoly. VERTEBRAL DEFect , anal atresia, radia
VACTERL association
VACTERL anomaly,
Vacteral association.