P322: Beyond the panel: Expanding the differential diagnosis of congenital diarrhea in an individual with multiple congenital anomalies
Abstract
The participant continues multidisciplinary management with gastroenterology and nutrition for chronic diarrhea. The increased risk for osteosarcoma associated with RECQL4-related disorders, particularly within the Rothmund-Thomson spectrum, the limited published cases with RAPADILINO phenotype, along with the presence of LIG4 variants, prompted a referral to the cancer predisposition clinic. Additional recommendations included cervical spine imaging and a skeletal survey to assess for skeletal anomalies though to be performed only if extremely necessary given potential malignancy secondary to radiation exposure with LIG4 variants.
Fields of Study & Subjects
Genomics and Rare Diseases
Genetic and rare skin diseases.
Immunodeficiency and Autoimmune Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103816–103816
- Publication date
- 1 January 2026
- Language
- EN