Congenital Longitudinal Radial Deficiency in Infants: Spectrum of Isolated Cases to VACTERL Syndrome
This was a case report of a 1-month-old-female infant was referred from evaluation of the congenital deformity of left upper limb. The baby was born to a 22-year-old primipara mother at term and her perinatal history was unremarkable. She was born at term by normal vaginal delivery following an uneventful pregnancy. She was the second child of non-consanguineous parents and there was no family history of any congenital anomaly. Physical examination of the baby was revealed deformity of the left forearm with radial deviation at the wrist and absent thumb [Figure and ]. There was no anal opening at birth and an emergency colostomy was already performed. Barium study performed later confirmed rectovaginal fistula []. Echocardiography showed situs solitus with dextroposition. X-ray chest also revealed D11 hemivertebrae []. Ultrasonography (USG) abdomen was normal. Based on these, she was diagnosed as VACTERL syndrome. Due to associated anomalies, passive physiotherapy had been advised to the parents in consultation with physiotherapists. The baby later developed an infection in the right lung and was treated accordingly. She has been planned for staged repair of rectovaginal fistula followed by re-anastomosis.