Description
Edited by Robert Kliegman and Francesc Palau, this Nelson reference examines rare disorders through the role of genetics in diagnosis. Anatomical-system organisation helps readers connect individual conditions with their presentations, while the wider discussion addresses approaches to patients whose disease remains undiagnosed. Concise condition-focused chapters support specialist reference and study.
Topics covered
- Approaches to undiagnosed disease and genetic diagnosis in children.
- Dysmorphology, neurological, metabolic, and immune disorders.
- Ciliopathies, mitochondrial disease, imprinting disorders, and cancer susceptibility syndromes.
Who it’s for
Paediatricians, clinical geneticists, specialty trainees, and clinicians evaluating children with suspected rare disorders.
Study use: Compare the clinical pattern with the disorder-group discussion to understand the diagnostic questions and genomic mechanisms involved.
