Wolf-Hirschhorn syndrome presenting with imperforate anus: A case report

Introduction: Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). First described in 1961, this syndrome has a 2:1 female predominance and an estimated frequency of 1/50,000-1/20,000. The phenotypic spectrum of WHS is wide and encompasses multiple organ systems including intrauterine growth restriction, distinctive craniofacial anomalies, global developmental delay and intellectual disability. Case presentation: We present the case of a hispanic male who was born at 39 WGA via CSection to a 28 y/o G3P1A1 mother without past medical history. The patient experienced intrauterine growth restriction which triggered further prenatal evaluation revealing a 36.14 mb terminal deletion of 4p16.3- > p14 and he was diagnosed with Wolf-Hirschhorn Syndrome. At birth, physical exam was remarkable for a wide nose, cleft lip and cleft palate, hypertelorism, micrognathia, and bilateral corneal clouding. Musculoskeletal exam showed bilateral clubbed feet and genitourinary exam revealed, bifid scrotum with undescended testes. Anorectal examination was pertinent for an imperforate anus without associated fistulas or abscess. After chest x-ray, abdominopelvic ultrasound and echocardiogram ruled out any major contraindication for surgery, he was managed with end colostomy and mucus fistula for fecal diversion. Due to history of poor feedings during the postnatal period, gastrostomy tube placement was also performed. The patient was discharged home at day 26 without immediate postoperative complications. Conclusion: We herein present possibly the first case of a male with WHS born with an imperforate anus that was managed surgically with end colostomy and mucus fistula. This case underscores the complexity and severity of WHS, by adding to its myriad of clinical manifestations and emphasizing the importance of reporting novel presentations and their management to improve care strategies for patients with WHS.