Khalid Faruqui1, Zayad AL Zahrin2 and Mohammed Hasosah2*
1Department of Pediatrics, Dr. Suliman Fakeeh Hospital, Saudi Arabia
2Department of Pediatric Gastroenterology, King Saud Bin Abdulaziz University for Health Sciences, National Guard Hospital, Saudi Arabia
Short-rib Thoracic Dysplasia type 11 (SRTD) is a rare autosomal recessive disease characterized by skeletal abnormalities, hepatic, renal, pancreatic, cardiac and retinal involvement. The liver involvement as cholestasis is extremely rare. Here, we report a 4-year-old boy with recurrent cholestasis. A diagnosis of SRTD was made based on WDR34 mutation gene found by Whole- Exome Sequencing (WES). Our case provides a new insight toward considering WES as a firstline methodology for differential diagnoses of any child presenting with recurrent unexplained cholestasis.
Faruqui K, Zahrin ZAL, Hasosah M. A Child with Short-rib Thoracic Dysplasia Type 11 Presenting as Cholestasis: The Utility of Exome Sequencing. J Gastroenterol Hepatol Endosc. 2019;4(5):1073..