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

by Gilbert, Patricia

• ISBN13: 9780748745296
• ISBN10: 0748745297
• Edition: 3rd
• Format: Paperback
• Copyright: 2000-02-01
• Publisher: Intl Specialized Book Service Inc

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