A poster about an unusual case of abdominal distention and chromosome deletion by Hurley physicians was recently featured in a regional scientific conference.
The poster, Bloated Belly: Saga of Abdominal Distention and Double Deletions on Chromosome 7, was presented at the March 18, 2022, Great Lakes Pediatric Research Day.
Authors included: Rohit Gupta MD and Nirmala Nagothu MD (residents in Hurley's Combined Internal Medicine / Pediatrics Program), Lorenza Padilla (a medical student at Michigan State University College of Human Medicine at Hurley Medical Center), Terrence Truong MD (a resident in Hurley's Pediatric Program), and Mohammad Tabbah MD (an attending physician in the Hurley Pediatric Program).
The case centered on an infant who was born with congenital abnormalities and complex conditions, with serious health issues in her first 3 years of life. Eventually, genetic testing revealed a first-ever report of a double deletion of chromosome 7. In addition, the child's signs and symptoms also were novel for the condition: severe intolerance to feeds and abdominal distention requiring a venting system.