2021 NATIONAL DIAGNOSTIC REFERENCE LEVELS FOR PAEDIATRIC COMPUTED TOMOGRAPHY IN EGYPT.

Objective: To establish national diagnostic reference levels (NDRLs) for most common paediatric computed tomography (CT) examinations in Egypt.

Methods: This was a prospective study that included all dedicated paediatric imaging centers in Egypt. Data from 1680 individual paediatric patients undergoing CT scanning of the head, chest and abdomen-pelvis were collected.

A Novel Homozygous Frameshift Variant in Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.

Dyggve-Melchior-Clausen syndrome (DMC) is a skeletal dysplasia with associated defects of brain development and intelligence. The truncating pathogenic variants in are the most frequent cause of DMC. Smith-McCort (SMC), another skeletal dysplasia, is also caused by non-synonymous variants.