CK syndrome: a rare cause of developmental delay in a young boy

We describe a new patient from the Indian subcontinent who presented with dysmorphism, global developmental delay and epilepsy. We also add left ventricular concentric hypertrophy and sensory neuropathy, which have not been reported previously. Our report suggests that CK syndrome may be unrecognized due to limited clinical knowledge and restricted availability of genetic testing. The expansion of the phenotype may also lead to a better understanding of biochemical anomalies and management approaches.
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research