Smith's Recognizable Patterns of Human Malformation

The completely revised and updated new edition of this definitive text - now in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides: a wealth of information on normal and abnormal morphogenesis; minor anomalies and their relevance; clinical approaches to specific diagnoses; and, normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormality - including occasional associated abnormalities - natural history, etiology, and references. On opposing pages are several descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.

ISBN 0721606156   Pages 976 ISBN13 9780721606156 (What's this?)   Volumes 1 Publisher Elsevier Health Sciences   Weight (grammes) 2282 Imprint Saunders (W.B.) Co Ltd   Published in London Format Multimedia Item   Series title Smith's Recognizable Patterns of Human Malformation Publication date 25 Aug 2005   Height (mm) 260 Library of Congress 2005049968   Width (mm) 184 DEWEY 612.64   Spine width (mm) 42 DEWEY edition DC22   Academic level Professional / Scholarly

		Introduction : dysmorphology approach and classification		1
Ch. 1		Recognizable patterns of malformation		7
A		Chromosomal abnormality syndromes		7
B		Very small stature, not skeletal dysplasia		82
C		Moderate short stature, facial, [actual symbol not reproducible] genital		114
D		Senile-like appearance		146
E		Early overgrowth with associated defects		160
F		Unusual brain and/or neuromuscular findings with associated defects		180
G		Facial defects as major feature		258
H		Facial-limb defects as major feature		286
I		Limb defect as major feature		338
J		Osteochondrodysplasias		368
K		Osteochondrodysplasia with osteopetrosis		453
L		Craniosynostosis syndromes		468
M		Other skeletal dysplasias		494
N		Storage disorders		518
O		Connective tissue disorders		546
P		Hamartoses		572
Q		Ectodermal dysplasias		628
R		Environmental agents		646
S		Miscellaneous syndromes		666
T		Miscellaneous sequences		698
U		Spectra of defects		738
V		Miscellaneous associations		756
		Alphabetical listing of syndromes		762
Ch. 2		Approaches to categorical problems : growth deficiency, mental deficiency, arthrogryposis, ambiguous external genitalia		767
		More...

REVIEW OF THE LAST EDITION: "This volume is an invaluable reference for all those engaged in the areas of genetics, dysmorphology, pediatrics, and internal medicine. Dr. Jones should be congratulated for perpetuating this great book....A magnificent contribution to the field."-Archives of Pediatrics & Adolescent Medicine

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