Smith's recognizable patterns of human malformation
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| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Philadelphia, Pa. [u.a.]
Elsevier Saunders
2006
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| Ausgabe: | 6. ed. |
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| 100 | 1 | |a Jones, Kenneth L. |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Smith's recognizable patterns of human malformation |c Kenneth Lyons Jones |
| 250 | |a 6. ed. | ||
| 264 | 1 | |a Philadelphia, Pa. [u.a.] |b Elsevier Saunders |c 2006 | |
| 300 | |a XVIII, 954 S. |b zahlr. Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 500 | |a 4. Aufl. u.d.T.: Smith, David W.: Recognizable patterns of human malformation | ||
| 650 | 4 | |a Abnormalities, Human | |
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| 689 | 0 | |C b |5 DE-604 | |
| 700 | 1 | |a Smith, David W. |e Sonstige |4 oth | |
| 856 | 4 | 2 | |m Digitalisierung UB Regensburg |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=013833635&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-013833635 | ||
Datensatz im Suchindex
| _version_ | 1804134158950203392 |
|---|---|
| adam_text | Contents
Introduction:
Chapter
A. CHROMOSOMAL ABNORMALITY SYNDROMES
Down Syndrome
Trisomy
Trisomy
Trisomy
Trisomy
Triploidy Syndrome and Diploid/Triploid Mixoploidy Syndrome
Deletion 3p Syndrome
Duplication 3q Syndrome
Deletion 4p Syndrome
Deletion 4q Syndrome
Deletion 5p Syndrome
Deletion 9p Syndrome
Duplication 9p Syndrome
Duplication lOq Syndrome
Aniridia-Wilms Tumor Association
Deletion llq Syndrome
Deletion 13q Syndrome
Duplication 15q Syndrome
Deletion 18p Syndrome
Deletion 18q Syndrome
Cat-Eye Syndrome
XYY Syndrome
XXY Syndrome, Klinefelter Syndrome
XXXY and XXXXY Syndromes
XXX
XXXXX Syndrome
45X Syndrome
B. VERY SMALL STATURE, NOT SKELETAL DYSPLASIA
Brachmann-de
Rubinstein-Taybi Syndrome
Russell-Silver Syndrome
SHORT Syndrome
3-М
Xl
xii Contents
Mulibrey
Dubowitz
Bloom Syndrome
Johanson-Blizzard Syndrome
Seekel
Hallermann-Streiff Syndrome
С
Smith-Lemli-Opitz Syndrome
Kabuki
Williams Syndrome
Noonan Syndrome
Costello
Cardio-Facio-Cutaneous Syndrome
Aarskog Syndrome
Robino
Opitz G/BBB
Floating-Harbor Syndrome
D. SENILE-LIKE APPEARANCE
Progeria Syndrome
Wiedemann-Rautenstrauch Syndrome
Werner Syndrome
Cockayne Syndrome
Rothmund-Thomson Syndrome
E. EARLY OVERGROWTH WITH ASSOCIATED DEFECTS
Fragile X Syndrome
Sotos
Weaver Syndrome
Marshall-Smith Syndrome
Beckwith-Wiedemann Syndrome
Simpson-Golabi-Behmel Syndrome
F. UNUSUAL BRAIN AND/OR NEUROMUSCULAR FINDINGS
WITH ASSOCIATED DEFECTS
Amyoplasia
Distal Arthrogryposis Syndrome, Type
Pena-Shokeir Phenotype
Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome
Lethal Multiple Pterygium Syndrome
Neu-Laxova Syndrome
Restrictive Dermopathy
Meckel-Gruber Syndrome
Pallister-Hall Syndrome
Х
Hydrolethalus Syndrome
Walker-Warburg Syndrome
Miller-Dieker Syndrome
__................... Contents xiii
Smith-Magenis
Ataxia-Telangiectasia
Menkes
22ql3
Angelman
Prader-
Cohen Syndrome
Killian/Teschler-Nicola Syndrome
Ip36
Fryns Syndrome
Zellweger Syndrome
Freeman-Sheldon
Myotonie
Schwartz-Jampel Syndrome
Marden-
Schinzel-Giedion Syndrome
Acrocallosal Syndrome
3C Syndrome
Hecht
G. FACIAL
Moebius
Blepharophimosis-Ptosis-Epicanthus
Robin
Cleft Lip Sequence
Van
Frontonasal Dysplasia Sequence
Fraser
Melnick-Fraser Syndrome
Branchio-Oculo-Facial Syndrome
CHARGE Syndrome
Waardenburg
Treacher Collins Syndrome
Marshall Syndrome
Cervico-Oculo-Acoustic Syndrome
H. FACIAL-LIMB DEFECTS AS MAJOR FEATURE
Miller Syndrome
Nager
Townes-Brocks Syndrome
Oral-Facial-Digital Syndrome
Mohr Syndrome
Deletion 22qll.2 Syndrome
Oculodentodigital Syndrome
Lenz Microphthalmia
Oto-Palato-Digital
Oto-Palato-Digital
Coffin-Lowry Syndrome
xiv Contents
X-Linked oc-Thalassemia/Mental
FG
Stickler Syndrome
Catel-Manzke Syndrome
Langer-Giedion Syndrome
Tricho-Rhino-Phalangeal Syndrome, Type I
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
Hay-Wells Syndrome of Ectodermal Dysplasia
Roberts Syndrome
I. LIMB DEFECT AS MAJOR FEATURE
Grebe Syndrome
Poland Sequence
Ulnar-Mammary Syndrome
Popliteal Pterygium Syndrome
Escobar Syndrome
CHILD Syndrome
Femoral Hypoplasia-Unusual
Tibial Aplasia-Ectrodactyly
Adams-Oliver Syndrome
Holt-Oram Syndrome
Levy-Hollister Syndrome
Fanconi Pancytopenia Syndrome
Radial Aplasia-Thrombocytopenia Syndrome
Aase
J. OSTEOCHONDRODYSPLASIAS
Achondrogenesis, Types IA and IB
Type II Achondrogenesis-Hypochondrogenesis
Fibrochondrogenesis
Atelosteogenesis, Type I
Short Rib-Polydactyly Syndrome, Type I (Saldino-Noonan Type)
Short Rib-Polydactyly Syndrome, Type II (Majewski Type)
Thanatophoric Dysplasia
Jeune
Campomelic Dysplasia
Achondroplasia
Hypochondroplasia
Pseudoachondroplasia
Acromesomelic Dysplasia
Spondyloepiphyseal Dysplasia
Kniest
Dyggve-Melchior-Clausen Syndrome
Spondylometaphyseal Dysplasia, Kozlowski Type
Metatropic Dysplasia
Geleophysic Dysplasia
Chondroectodermal Dysplasia
Diastrophic Dysplasia
Contents xv
X-Linked
Multiple Epiphyseal Dysplasia
Metaphyseal Dysplasia,
Metaphyseal Dysplasia, McKusick Type
Metaphyseal Dysplasia,
Shwachman-Diamond Syndrome
Chondrodysplasia
Autosomal Recessive Chondrodysplasia
Hypophosphatasia
Hajdu-Cheney Syndrome
Craniometaphyseal Dysplasia
Frontometaphyseal Dysplasia
K. OSTEOCHONDRODYSPLASIAWITHOSTEOPETROSIS
Osteopetrosis: Autosomal Recessive
Sclerosteosis
Lenz-Majewski Hyperostosis Syndrome
Pyknodysostosis
Cleidocranial Dysostosis
Yunis-
L. CRANIOSYNOSTOSIS SYNDROMES
Saethre-Chotzen Syndrome
Pfeiffer
Apert
Crouzon Syndrome
FGFRS-Associated Coronal Synostosis Syndrome
Craniofrontonasal Dysplasia
Carpenter Syndrome
Greig Cephalopolysyndactyly Syndrome
Antley-Bixler Syndrome
Baller-Gerold Syndrome
M. OTHER SKELETAL DYSPLASIAS
Multiple Synostosis Syndrome
Spondylocarpotarsal Synostosis Syndrome
Larsen Syndrome
Multiple Exostoses Syndrome
Nail-Patella Syndrome
Meier-Gorlin Syndrome
Leri-Weill Dyschondrosteosis
Langer Mesomelic
Acrodysostosis
Albright Hereditary Osteodystrophy
N.
Generalized Gangliosidosis Syndrome, Type I (Severe Infantile Type)
Leroy
Pseudo-Hurler Polydystrophy Syndrome
xvi Contents
Hurler Syndrome
Scheie Syndrome
Hurler-Scheie Syndrome
Hunter
Sanfilippo Syndrome
Morquio Syndrome
Maroteaux-Lamy Mucopolysaccharidosis Syndrome
(Mild,
Mucopolysaccharidosis
О.
Marfan
Beals Syndrome
Shprintzen-Goldberg Syndrome
Ehlers-Danlos Syndrome
Osteogenesis
Osteogenesis
Fibrodysplasia Ossificans
P. HAMARTOSES
Sturge-Weber Sequence
Neurocutaneous Melanosis Sequence
Linear Sebaceous Nevus Sequence
Incontinentia
Hypomelanosis of
Tuberous Sclerosis Syndrome
Neurofibromatosis Syndrome
McCune-Albright Syndrome
Klippel-Trenaunay Syndrome
Proteus Syndrome
Encephalocraniocutaneous Lipomatosis
Maffucci Syndrome
Peutz-Jeghers Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
Hereditary Hemorrhagic Telangiectasia
Multiple Endocrine
Gorlin Syndrome
Multiple Lentigines Syndrome
Goltz Syndrome
Microphthalmia-Linear Skin Defects Syndrome
Q. ECTODERMAL DYSPLASIAS
Hypohidrotic Ectodermal Dysplasia
Rapp-Hodgkin Ectodermal Dysplasia
Tricho-Dento-Osseous Syndrome
Clouston
GAPO
Pachyonychia
Contents xvii
Xeroderma
Senter-KID
R.
Fetal Alcohol
Fetal
Fetal Valproate
Fetal Warfarin
Fetal Aminopterin/Methotrexate
Retinole
Fetal Varicella Syndrome
Hyperthermia-Induced Spectrum of Defects
S. MISCELLANEOUS SYNDROMES
Coffin-Siris Syndrome
Börjeson-Forssman-Lehmann
Alagille Syndrome
Melnick-Needles Syndrome
Bardet-Biedl Syndrome
McKusick-Kaufman Syndrome
Rieger Syndrome
Peters -Plus Syndrome
Toriello-Carey Syndrome
Mowat-Wilson Syndrome
Cerebro-Costo-Mandibular Syndrome
Jarcho-Levin Syndrome
Mandibuloacral Dysplasia
Berardinelli Lipodystrophy Syndrome
Distichiasis-Lymphedema Syndrome
T. MISCELLANEOUS SEQUENCES
Laterality Sequences
Holoprosencephaly Sequence
Meningomyelocele, Anencephaly, Iniencephaly Sequences
Occult Spinal Dysraphism Sequence
Septo-Optic Dysplasia Sequence
Athyrotic Hypothyroidism Sequence
DiGeorge
Klippel-Feil Sequence
Early Urethral Obstruction Sequence
Exstrophy of Bladder Sequence
Exstrophy of Cloaca Sequence
Urorectal Septum Malformation Sequence
Oligohydramnios Sequence
Sirenomelia Sequence
Caudal Dysplasia Sequence
Amnion Rupture Sequence
Limb-Body Wall Complex
xviii Contents
U.
Oculo-Auriculo-Vertebral Spectrum
Oromandibular-Limb Hypogenesis Spectrum
Congenital Microgastria-Limb Reduction Complex
Sternal Malformation-Vascular Dysplasia Spectrum
Monozygotic Twinning and Structural Defects
V MISCELLANEOUS ASSOCIATIONS
VATERR Association
MURCS Association
Alphabetical Listing of Syndromes
Chapter
Deficiency, Mental Deficiency, Arthrogryposis,
Ambiguous External
Chapter
Chapter
Chapter
Problems and to the Recognition of Malformation
Syndromes
Chapter
Appendix I: Pattern of Malformation Differential Diagnosis
by Anomalies
Appendix II: Nomenclature for Chromosomal Syndromes
Index
|
| any_adam_object | 1 |
| author | Jones, Kenneth L. |
| author_facet | Jones, Kenneth L. |
| author_role | aut |
| author_sort | Jones, Kenneth L. |
| author_variant | k l j kl klj |
| building | Verbundindex |
| bvnumber | BV020828385 |
| classification_rvk | XG 2400 |
| ctrlnum | (OCoLC)60697189 (DE-599)BVBBV020828385 |
| dewey-full | 616.043 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616.043 |
| dewey-search | 616.043 |
| dewey-sort | 3616.043 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| edition | 6. ed. |
| format | Book |
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| id | DE-604.BV020828385 |
| illustrated | Illustrated |
| indexdate | 2024-07-09T20:20:10Z |
| institution | BVB |
| isbn | 0721606156 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-013833635 |
| oclc_num | 60697189 |
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| owner_facet | DE-29 DE-355 DE-BY-UBR DE-19 DE-BY-UBM |
| physical | XVIII, 954 S. zahlr. Ill., graph. Darst. |
| publishDate | 2006 |
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| publisher | Elsevier Saunders |
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| spelling | Jones, Kenneth L. Verfasser aut Smith's recognizable patterns of human malformation Kenneth Lyons Jones 6. ed. Philadelphia, Pa. [u.a.] Elsevier Saunders 2006 XVIII, 954 S. zahlr. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier 4. Aufl. u.d.T.: Smith, David W.: Recognizable patterns of human malformation Abnormalities, Human Missbildung (DE-588)4039561-3 gnd rswk-swf Missbildung (DE-588)4039561-3 s b DE-604 Smith, David W. Sonstige oth Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=013833635&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Jones, Kenneth L. Smith's recognizable patterns of human malformation Abnormalities, Human Missbildung (DE-588)4039561-3 gnd |
| subject_GND | (DE-588)4039561-3 |
| title | Smith's recognizable patterns of human malformation |
| title_auth | Smith's recognizable patterns of human malformation |
| title_exact_search | Smith's recognizable patterns of human malformation |
| title_full | Smith's recognizable patterns of human malformation Kenneth Lyons Jones |
| title_fullStr | Smith's recognizable patterns of human malformation Kenneth Lyons Jones |
| title_full_unstemmed | Smith's recognizable patterns of human malformation Kenneth Lyons Jones |
| title_short | Smith's recognizable patterns of human malformation |
| title_sort | smith s recognizable patterns of human malformation |
| topic | Abnormalities, Human Missbildung (DE-588)4039561-3 gnd |
| topic_facet | Abnormalities, Human Missbildung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=013833635&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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