Children with PTLS can have a clinically recognizable and specific phenotype: craniofacial dysmorphism, motor and neurological manifestations, which may implicate a possible genetic disease to the attending physician. Moreover, each child with this syndrome is unique and may have a different clinical picture. The management of such patients requires a multidisciplinary team approach, including medical genetic counseling.
Keyphrases
- end stage renal disease
- ejection fraction
- primary care
- genome wide
- newly diagnosed
- chronic kidney disease
- healthcare
- emergency department
- case report
- young adults
- mental health
- prognostic factors
- quality improvement
- peritoneal dialysis
- palliative care
- gene expression
- dna methylation
- brain injury
- hepatitis c virus
- patient reported
- antiretroviral therapy
- subarachnoid hemorrhage