How to use this book

This book is designed as a reference in which health professionals can review complications and design preventive management for common congenital anomalies or syndromes. Over 250 disorders are discussed, including 29 disorders and 3 syndrome families that are described in detail with standardized flow sheets for preventive care (e.g., see the general checklist at the end of this preface). These preventive management checklists are meant to be copied and placed in the medical record. By checking off the appropriate boxes and entering notes, the practitioner can assemble an ongoing record of key concerns, evaluations, and referral/counseling measures. The appended general checklist can be used for less common disorders summarized in this book or elsewhere; complications can be listed and management considerations written in as the child is followed.

A new checklist format of four pages is provided for this second edition. The first page includes a succinct description of the disease and summarizes its complications in a standardized organ-system format. The second and third pages include age-specific recommendations with evaluations and key concerns in the first column and management considerations in the second. The third column has room for physician notes, with occasional reminders for high-risk problems. Below the columns are succinct summaries of disease-specific risks as well as general genetic or social risk factors for that child (e.g., coronary artery disease, prematurity, nutritional deprivation). The presence of general and disease-specific risks on the same flow sheet provides the practitioner with a comprehensive, on-going summary of patient care.