Undiagnosed and Rare Diseases, An Issue of Clinics in Perinatology

In collaboration with Consulting Editor Dr. Lucky Jain, Drs. Robert Kliegman and Bret Bordini present a comprehensive update on the treatment and management of undiagnosed and rare diseases in neonates. This volume brings together expert authors who provide concise, evidence-based clinical reviews of complex and uncommon neonatal conditions. It is designed to equip neonatologists, pediatricians, and trainees with the knowledge needed to make accurate diagnoses, avoid errors, and optimize outcomes in critically ill newborns.

Key Features

• Covers a wide range of rare and undiagnosed neonatal conditions, including liver failure, immune deficiencies, metabolic crises, and congenital syndromes.
• Expert-led clinical review articles with practical, evidence-based guidance.
• Focus on avoiding diagnostic errors and improving clinical decision-making.
• Includes updates on genomic approaches, diagnostic strategies, and differentiation of overlapping syndromes.
• Designed to improve neonatal outcomes through actionable, high-yield information.