9780748745296

A-Z of Syndromes and Inherited Disorders : A Manual for Health, Social and Education Workers

by
  • ISBN13:

    9780748745296

  • ISBN10:

    0748745297

  • Edition: 3rd
  • Format: Paperback
  • Copyright: 2000-02-01
  • Publisher: Intl Specialized Book Service Inc
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Summary

Describes the conditions and problems of both children and adults. Considers the day-to-day management of disorders. Written in non-technical language for a wider audience. Enough detail given for the medical, nursing and midwifery professions. Well indexed and has an extensive glossary.

Table of Contents

Foreword xi
Preface to the third Edition xii
Preface to the first edition xiii
Acknowledgements xv
The effects handicap
1(8)
Achondroplasia
9(4)
Aicardi's syndrome
13(3)
Albinism
16(3)
Albright's syndrome
19(3)
Alport's syndrome
22(4)
Angelman's syndrome
26(3)
Ankylosing spondylitis
29(2)
Apert's syndrome
31(3)
Arthrogryposis
34(3)
Asperger's syndrome
37(3)
Ataxia--telangiectasia
40(3)
Batten's disease
43(4)
Beckwith--Wiedemann syndrome
47(3)
Charcot--Marie--Tooth disease
50(3)
CHARGE association
53(4)
Christmas disease
57(3)
Cockayne's syndrome
60(2)
Coffin--Lowry syndrome
62(2)
Cohen's syndrome
64(3)
Congenital central hypoventilation syndrome
67(3)
Cornelia de Lange syndrome
70(3)
Cri-du-chat syndrome
73(3)
Crouzon's syndrome
76(3)
Cystic fibrosis
79(4)
Down's syndrome
83(5)
Duchenne muscular dystrophy
88(4)
Edwards syndrome
92(3)
Ehlers--Danlos syndrome
95(3)
Ellis--van Creveld syndrome
98(2)
Epidermolysis bullosa
100(3)
Fabry's disease
103(3)
Fetal alcohol syndrome
106(3)
Fragile X syndrome
109(3)
Friedreich's ataxia
112(3)
Galactosaemia
115(3)
Gaucher's disease
118(2)
Gilles de la Tourette's syndrome
120(2)
Goldenhar's syndrome
122(3)
Gorlin's syndrome
125(2)
Guillain--Barre syndrome
127(2)
Haemolytic--uraemic syndrome
129(3)
Haemophilia
132(4)
Holt--Oram syndrome
136(2)
Homocystinuria
138(3)
Hunter's syndrome
141(3)
Hurler's syndrome
144(3)
Hypertrophic cardiomyopathy
147(4)
Ichthyosis
151(2)
Johanson--Blizzard syndrome
153(2)
Klinefelter's syndrome
155(3)
Klippel--Feil syndrome
158(3)
Landau--Kleffner syndrome
161(3)
Laurence--Moon--Bardet--Biedl syndrome
164(4)
Lennox--Gastaut syndrome
168(3)
LEOPARD syndrome
171(3)
Lowe's syndrome
174(3)
Marfan's syndrome
177(4)
Mobius' syndrome
181(3)
Morquio's syndrome
184(3)
Nephrotic syndrome
187(4)
Neurofibromatosis
191(4)
Niemann--Pick disease
195(3)
Noonan's syndrome
198(4)
Ollier's disease
202(3)
Osteogenesis imperfecta
205(3)
Patau's syndrome
208(3)
Phenylketonuria
211(3)
Pierre Robin syndrome
214(3)
Prader--Willi syndrome
217(4)
Primary ciliary dyskinesia
221(3)
Retinitis pigmentosa
224(3)
Rett's syndrome
227(3)
Reye's syndrome
230(3)
Riley--Day syndrome
233(3)
Rubinstein--Taybi syndrome
236(3)
Sanfilippo's syndrome
239(3)
Shwachman's syndrome
242(3)
Sickle--cell anaemia
245(4)
Silver--Russell syndrome
249(2)
Sjogren--Larsson syndrome
251(3)
Smith--Lemli--Opitz syndrome
254(2)
Smith--Magenis syndrome
256(3)
Soto's syndrome
259(3)
Spinal muscular atrophy
262(3)
Stickler's syndrome
265(3)
Sturge--Weber syndrome
268(2)
TAR syndrome
270(3)
Tay--Sachs disease
273(3)
Thalassaemia
276(4)
Treacher Collins syndrome
280(3)
Tuberous sclerosis
283(3)
Turner's syndrome
286(4)
Usher's syndrome
290(3)
VATER association
293(3)
Vitiligo
296(2)
Waardenburg's syndrome
298(3)
West's syndrome
301(3)
Williams syndrome
304(3)
Wolf--Hirschhorn syndrome
307(3)
Zollinger--Ellison syndrome
310(2)
Appendix A: background genetics 312(12)
Appendix B: genetics centres 324(2)
Appendix C: glossary 326(3)
Index 329

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