This text is designed as a dynamic study aid and reference for pediatric training and future practice. The manual can serve as a syllabus for medical students and house officers during genetics/developmental pediatric rotations and provide a concise review for later examinations or practice. The primary objective is to imprint simple principles that enable pediatricians to recognize, refer, and manage patients with genetic and developmental diseases.
Promoting a focus on key genetic/developmental disorders is a “top 25” condition/complaint, plus a “magnificent 70” genetic/developmental diseases, also drawn from APA/AAP objectives. A “sweet 16” of case-oriented problems then reinforces knowledge of concepts and diseases, followed by answers and discussions. Selected concepts, diseases, and problems are highlighted for medical students. Trainees can work through the cases based on their level of experience, review the discussions for incorrect answers, and refer to didactic material in the references to fill gaps in their knowledge.
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