Preventive Health Care for Children with Genetic Conditions: Providing a Primary Care Medical Home

by Golder N. Wilson , W. Carl Cooley

• ISBN13: 9780521617345
• ISBN10: 0521617340
• Edition: 2nd
• Format: Paperback
• Copyright: 2006-05-29
• Publisher: Cambridge University Press

Summary

Originally published as Preventative Management of Children with Congenital Anomalies and Syndromes, this new edition provides health professionals with an invaluable, structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. The large number of conditions covered and the added perspective of a developmental pediatrician (Dr Cooley) provides a valuable resource for carers and parents. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. For 32 common disorders or disease categories, preventive management checklists are provided: these checklists provide an ongoing record for the child's medical complications and progress and they are designed to be copied and placed in the medical record. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.

Author Biography

Golder Wilson as clinical Professor of Pediatrics at Texas Tech university W. Carl Cooley is Adjunct Associate Professor of Pediatrics at Dartmouth Medical School and the Director of the Crotched Mountain Rehabilitation Center in New Hampshire

Table of Contents

Preface	ix
Glossary of genetic and molecular terms	xv
Part I Approach to the child with special needs
Approach to the child with genetic disease	3	(18)
Providing a primary care medical home for the child with a developmental disability	21	(12)
Approach to preventive management	33	(28)
Part II The management of selected single congenital anomalies and associations
Congenital anomalies associated with developmental disability	61	(29)
Single anomalies, sequences, and associations	90	(26)
Teratogenic syndromes	116	(35)
Part III Chromosomal syndromes
Autosomal aneuploidy syndromes	151	(43)
Sex chromosome aneuploidy and X-linked mental retardation syndromes	194	(36)
Chromosome microdeletion syndromes	230	(35)
Part IV Syndromes remarkable for altered growth
Syndromes with proportionate growth failure as a primary manifestation	265	(28)
Syndromes with disproportionate growth failure (dwarfism)	293	(33)
Overgrowth syndromes	326	(20)
Hamartosis syndromes	346	(29)
Part V Management of craniofacial syndromes
Craniosynostosis syndromes	375	(13)
Branchial arch and face/limb syndromes	388	(25)
Part VI Management of connective tissue and integumentary syndromes
Connective tissue disorders	413	(24)
Integumentary syndromes	437	(20)
Part VII The management of neurologic and neurodegenerative syndromes
Neurologic syndromes including the arthrogryposes	457	(20)
Part VIII Management of neurodegenerative metabolic disorders
Organellar and miscellaneous neurodegenerative disorders	477	(29)
Metabolic dysplasias susceptible to dietary treatment	506	(18)
References	524	(25)
Index	549