Limb malformations: an atlas of genetic disorders of limb development
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Berlin [u.a.]
Springer
2014
|
| Schlagworte: | |
| Online-Zugang: | Inhaltstext Klappentext Inhaltsverzeichnis |
| Beschreibung: | XVI, 267 S. zahlr. Ill., graph. Darst. 260 mm x 193 mm |
| ISBN: | 9783540959274 |
Internformat
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Datensatz im Suchindex
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| adam_text |
This book focuses on a subgroup of skeletal disease,
malformations and growth defects that predomi¬
nantly affect the limbs. Limb malformations are
relatively common and can occur as an isolated trait
or associated with other abnormalities as part of a
syndrome. The phenotype of limb malformations is
extremely heterogeneous, and a high degree of clini¬
cal variability exists even among genetically defined
conditions. This often makes an accurate diagnosis
difficult. Therefore, one aim of this atlas is to present
a comprehensive overview of limb malformation
phenotypes in order to provide the clinician with a
tool that facilitates the diagnostic process. With the
enormous advances in molecular and developmen¬
tal biology, the genetic basis of many limb malfor¬
mations and their relationship to each other has
been elucidated. Thus, a further aim of this atlas is
to provide the reader with a basic understanding
of the molecular pathology of these conditions.
The book is extensively illustrated with clinical pho¬
tos and radiographs of conditions or groups of relat¬
ed conditions. In addition, a concise description
of the conditions is provided featuring structured
information on "Synonyms", "Major clinical find¬
ings", "Genetic transmission", "Differential diagno¬
sis", "Molecular Pathology", and references to Men-
delian Inheritance in Man (OMIM).
The book is designed for medical geneticists, radiol¬
ogists, pediatricians, hand surgeons, orthopedic sur¬
geons, as well as medical personnel and other physi¬
cians involved in the evaluation and treatment of
patients with abnormal limbs.
TABLE OF CONTENTS
I INTRODUCTION 1
1 DEVELOPMENT OF THE LIMBS 2
SIGMAR STRIEKER AND STEFAN MUNDLOS
2 CLINICAL ASSESSMENT AND ANTHROPOMETRY OF THE LIMBS 10
DENISE HORN
3 RADIOLOGY OF THE LIMB 17
RALPH LACHMAN
4 SURGICAL MANAGEMENT PRINCIPLES FOR CONGENITAL UPPER LIMB
MALFORMATIONS 22
ULRICH MENNEN
II DISORDERS: POLYDACTYLY ISOLATED 29
5 PREAXIAL POLYDACTYLY 30
6 POSTAXIAL POLYDACTYLY 31
7 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 33
8 TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME 36
8 SYNPOLYDACTYLY 38
10 LAURIN-SANDROW SYNDROME 41
III DISORDERS: POLYDACTYLY ASSOCIATED 45
11 ELLIS-VAN CREVELD SYNDROME 46
12 SHORT RIB-POLYDACTYLY SYNDROMES 49
13 BARDET-BIEDL SYNDROME 51
XI
HTTP://D-NB.INFO/1000032299
XII
14 MECKEL SYNDROME 53
15 CARPENTER SYNDROME 55
16 ACROCALLOSAL SYNDROME 57
17 TOWNES-BROCKS SYNDROME 59
18 PALLISTER-HALL SYNDROME 61
IV DISORDERS: SYNDACTYLY ISOLATED 63
19 SYNDACTYLY TYPE LUEKEN 64
20 METACARPAL 4-5 FUSION SYNDROME 66
21 SYNDACTYLY TYPE HAAS 67
22 ACROPECTOROVERTEBRAL DYSPLASIA 69
V DISORDERS: SYNDACTYLY ASSOCIATED 71
23 APERT SYNDROME 72
24 CRANIOSYNOSTOSIS, PHILADELPHIA TYPE 74
25 FRASER SYNDROME 76
26 CENANI-LENZ SYNDROME 78
27 OCULODENTODIGITAL DYSPLASIA 80
28 ORO-FACIAL-DIGITAL SYNDROME, TYPE 1 82
29 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 84
30 SMITH-LEMLI-OPITZ SYNDROME 86
VI DISORDERS: BRACHYDACTYLY ISOLATED 87
31 BRACHYDACTYLY TYPE A1 88
32 BRACHYDACTYLY TYPE A2 90
33 BRACHYDACTYLY TYPE B1 92
34 BRACHYDACTYLY TYPE B2 95
XIII
35 BRACHYDACTYLY TYPE C 97
36 BRACHYDACTYLY TYPE E; BRACHYDACTYLY TYPE D 99
37 COOKS SYNDROME 101
VII DISORDERS: BRACHYDACTYLY ASSOCIATED 103
38 ADAMS-OLIVER SYNDROME 104
39 HAND-FOOT-GENITAL SYNDROME 106
40 CATEL-MANZKE SYNDROME 108
41 FEINGOLD SYNDROME 110
42 ALBRIGHT HEREDITARY OSTEODYSTROPHY 112
43 BRACHYDACTYLY-HYPERTENSION SYNDROME 114
44 RUBINSTEIN-TAYBI SYNDROME 116
45 CRANIOECTODERMAL DYSPLASIA 118
46 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 120
47 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 123
48 ENCHONDROMATOSIS, OILIER TYPE 126
49 TRICHORHINOPHALANGEAL SYNDROME 128
50 ACRODYSOSTOSIS, WITH OR WITHOUT HORMONE RESISTANCE 130
51 ACROMICRIC DYSPLASIA 132
VIII ABNORMAL JOINT FORMATION/SYNOSTOSIS 133
52 SYMPHALANGISM; MULTIPLE SYNOSTOSES SYNDROME; TARSAL/CARPAL
COALITION SYNDROME; TEUNISSEN-CREMERS SYNDROME 134
53 ANTLEY-BIXLER SYNDROME WITH/WITHOUT GENITAL ANOMALIES OR
DISORDERED STEROIDOGENESIS 138
54 LIEBENBERG SYNDROME 140
55 NAIL-PATELLA SYNDROME 143
56 SMALL PATELLA SYNDROME 146
XIV
57 LARSEN SYNDROME 148
IX CONTRACTURE DEFORMITIES 151
58 AMYOPLASIA CONGENITA 152
59 FREEMAN-SHELDON SYNDROME 154
60 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT 156
61 BEALS SYNDROME 158
X REDUCTION ANOMALIES: UPPER AND LOWER LIMBS 161
62 ACHEIROPODIA 162
63 AL-AWADI/RAAS-ROTHSCHILD/SCHINZEL PHOCOMELIA SYNDROME 164
64 TETRA-AMELIA, PEROMELIA 167
65 HANHART SYNDROME 168
66 ROBERTS SYNDROME 170
67 FOCAL DERMAL HYPOPLASIA 172
XI REDUCTION ANOMALIES: LOWER LIMBS 175
68 DEFICIENCY OF LONG BONES WITH CLUBFOOT AND MIRROR-IMAGE POLYDACTYLY.
. . 176
69 FEMORAL-FACIAL SYNDROME 179
70 GOLLOP-WOLFGANG COMPLEX 181
71 SIRENOMELIA 182
XII REDUCTION ANOMALIES: UNILATERAL 185
72 POLAND SYNDROME 186
73 TERMINAL TRANSVERSE DEFECT 188
74
75
76
77
78
79
80
81
X\
82
83
84
85
X^
86
87
88
X\
89
90
91
92
XV
REDUCTION ANOMALIES: RADIAL RAY 189
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 190
FANCONI ANEMIA 193
HOLT-ORAM SYNDROME 195
OKIHIRO SYNDROME 198
LACRIMO-AURICULO-DENTO-DIGITAL (LADD) SYNDROME 200
NAGER SYNDROME 203
BALLER-GEROLD SYNDROME 205
RICHIERI-COSTA-PEREIRA SYNDROME 207
REDUCTION ANOMALIES: ULNAR RAY 209
FEMUR-FIBULA-ULNA SYNDROME 210
ULNAR-MAMMARY SYNDROME 211
GENEE-WIEDEMANN SYNDROME 213
CORNELIA DE LANGE SYNDROME 215
REDUCTION ANOMALIES: NONGENETIC 217
AMNION RUPTURE SEQUENCE 218
THALIDOMIDE EMBRYOPATHY 220
VALPROATE EMBRYOPATHY 223
REDUCTION ANOMALIES: SPLIT HAND/FOOT MALFORMATION 225
SPLIT HAND/FOOT MALFORMATION (SHFM) 226
SPLIT HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY (SHFLD) 229
SPLIT HAND/FOOT MALFORMATION (SHFM), SYNDROMIC, P63 ASSOCIATED 232
HARTSFIELD SYNDROME 235
XVI
XVII ACROMESOMELIC DYSPLASIA 237
93 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 238
94 LERI-WEILL DYSCHONDROSTEOSIS; MESOMELIC DYSPLASIA, LANGER TYPE 240
95 ROBINOW SYNDROME 243
96 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE 245
97 GREBE DYSPLASIA; HUNTER-THOMPSON DYSPLASIA; DU PAN DYSPLASIA;
CHONDRODYSPLASIA, ACROMESOMELIC, BMPR1B TYPE 247
98 MESOMELIC DYSPLASIA, WERNER TYPE 251
99 NIEVERGELT SYNDROME 254
XVIII MACRODACTYLY/OVERGROWTH 255
100 HEMIHYPERPLASIA, ISOLATED 256
101 KLIPPEL-TRENAUNAY-WEBER SYNDROME 258
102 PROTEUS SYNDROME 260
SUBJECT INDEX 263 |
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| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Book |
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| spelling | Limb malformations an atlas of genetic disorders of limb development Stefan Mundlos ; Denise Horn Berlin [u.a.] Springer 2014 XVI, 267 S. zahlr. Ill., graph. Darst. 260 mm x 193 mm txt rdacontent n rdamedia nc rdacarrier Missbildung (DE-588)4039561-3 gnd rswk-swf Gliedmaßen (DE-588)4016074-9 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Gliedmaßen (DE-588)4016074-9 s Missbildung (DE-588)4039561-3 s DE-604 Mundlos, Stefan Sonstige oth Horn, Denise Sonstige oth Erscheint auch als Online-Ausgabe 978-3-540-95928-1 text/html http://deposit.dnb.de/cgi-bin/dokserv?id=3423625&prov=M&dok_var=1&dok_ext=htm Inhaltstext Digitalisierung UB Regensburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027535676&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Klappentext DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027535676&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Limb malformations an atlas of genetic disorders of limb development Missbildung (DE-588)4039561-3 gnd Gliedmaßen (DE-588)4016074-9 gnd |
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| title | Limb malformations an atlas of genetic disorders of limb development |
| title_auth | Limb malformations an atlas of genetic disorders of limb development |
| title_exact_search | Limb malformations an atlas of genetic disorders of limb development |
| title_full | Limb malformations an atlas of genetic disorders of limb development Stefan Mundlos ; Denise Horn |
| title_fullStr | Limb malformations an atlas of genetic disorders of limb development Stefan Mundlos ; Denise Horn |
| title_full_unstemmed | Limb malformations an atlas of genetic disorders of limb development Stefan Mundlos ; Denise Horn |
| title_short | Limb malformations |
| title_sort | limb malformations an atlas of genetic disorders of limb development |
| title_sub | an atlas of genetic disorders of limb development |
| topic | Missbildung (DE-588)4039561-3 gnd Gliedmaßen (DE-588)4016074-9 gnd |
| topic_facet | Missbildung Gliedmaßen Aufsatzsammlung |
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