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Prenatal Diagnosis of Fetal Osteopathologies (Record no. 59799)

MARC details
000 -LEADER
fixed length control field 05385nam a22004935i 4500
001 - CONTROL NUMBER
control field 978-3-031-39347-1
003 - CONTROL NUMBER IDENTIFIER
control field DE-He213
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20251030112038.0
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION
fixed length control field cr nn 008mamaa
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 240513s2024 sz | s |||| 0|eng d
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
International Standard Book Number 9783031393471
-- 978-3-031-39347-1
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/978-3-031-39347-1
Source of number or code doi
050 #4 - LIBRARY OF CONGRESS CALL NUMBER
Classification number RG1-991
072 #7 - SUBJECT CATEGORY CODE
Subject category code MJT
Source bicssc
072 #7 - SUBJECT CATEGORY CODE
Subject category code MED033000
Source bisacsh
072 #7 - SUBJECT CATEGORY CODE
Subject category code MKC
Source thema
245 10 - TITLE STATEMENT
Title Prenatal Diagnosis of Fetal Osteopathologies
Medium [electronic resource] /
Statement of responsibility, etc. edited by Aniello Di Meglio.
250 ## - EDITION STATEMENT
Edition statement 1st ed. 2024.
264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Place of production, publication, distribution, manufacture Cham :
Name of producer, publisher, distributor, manufacturer Springer Nature Switzerland :
-- Imprint: Springer,
Date of production, publication, distribution, manufacture, or copyright notice 2024.
300 ## - PHYSICAL DESCRIPTION
Extent XV, 885 p. 1010 illus., 200 illus. in color.
Other physical details online resource.
336 ## - CONTENT TYPE
Content type term text
Content type code txt
Source rdacontent
337 ## - MEDIA TYPE
Media type term computer
Media type code c
Source rdamedia
338 ## - CARRIER TYPE
Carrier type term online resource
Carrier type code cr
Source rdacarrier
347 ## - DIGITAL FILE CHARACTERISTICS
File type text file
Encoding format PDF
Source rda
505 0# - FORMATTED CONTENTS NOTE
Formatted contents note Classification of osteodysplasias and study protocol -- Classification of osteodysplasias and dysmorphic syndromes with skeletal involvement -- Cranial anomalies -- Congenital deformities of the spine -- Deformities of the thoracic cage and pelvis -- Ectromelia -- Congenital deformities of the upper limb -- Congenital deformities of the lower limb -- Exogenous causes of osteopathy -- Osteodysplasias -- Lethal micromelic type osteodysplasias -- Rhizomelic dwarfism dysplasias -- Mesomelic dwarfism -- Mesoacromelic dysplasias -- Acromelic dysplasias -- Dysplasia with severe proximal-distal micromelia -- Osteodysplasias with isolated or concurrent involvement of epiphyses, metaphyses, and vertebral bodies -- Congenital sclerosing, hyperostotic, and dysmodelling osteopathies -- Rarefying and hypostotic osteopathies -- Osteopathies from anarchic tissue development -- Idiopathic osteolysis -- Chromosomal aberrations -- Dismorphic syndromes with skeletal anomalies -- Lethal or sublethal evolving syndromes -- Dismorphic syndromes with craniofacial anomalies -- Dismorphic syndromes with anomalies of the skull and extremities -- Dismorphic syndromes with anomalies of the oral cavity and extremities -- Dismorphic syndromes with predominant involvement of the limb skeleton -- Dismorphic syndromes with predominant involvement of the trunk -- Dismorphic syndromes with bone overgrowth -- Dismorphic syndromes with dolichostenomelia -- Dismorphic syndromes with joint stiffness -- Dismorphic syndromes with prenatal dwarfism and skeletal anomalies -- Dismorphic syndromes with cerebral and skeletal anomalies -- Dismorphic syndromes with ocular and skeletal anomalies -- Dismorphic syndromes with cardiac and skeletal anomalies -- Dismorphic syndromes with pulmonary and skeletal anomalies -- Dismorphic syndromes with renal and skeletal anomalies -- Dismorphic syndromes with genital and skeletal anomalies -- Dismorphic syndromes with cutaneous and skeletal anomalies -- Dismorphic syndromes with pterygium and skeletal malformations -- Dismorphic syndromes with amartomatous and skeletal anomalies -- Syndromes that combine progeria and skeletal malformations -- Syndromes that combine anemia or thrombocytopenia with skeletal defects -- Skeletal anomalies and twin pregnancies -- Hereditary muscle-spinal malformations -- Skeletal syndromes resulting from metabolic anomalies -- Images of normal bone -- Biometry -- Prenatal genetic counseling -- Genetic investigations (the synergy between obstetrician and geneticist in the prenatal diagnosis of congenital defects) -- Legal aspects in the ultrasound diagnosis of fetal osteopathology -- Doubt: recognition or diagnostic accuracy?- Reporting -- Conclusions -- Glossary -- Analytical index.
520 ## - SUMMARY, ETC.
Summary, etc. The main aim of this book is to help obstetricians and gynecologists recognize prenatal skeletal anomalies. Bone dysplasias alone represent about a third of all fetal malformations, some of which have different prognoses ranging from mild disabilities to severe or lethal ones. However, recognizing them prenatally is often difficult or impossible as they usually become apparent in the third trimester or even after birth. The majority of skeletal syndromes are extremely rare, making genetic testing necessary. The book is divided into sections, starting from the skull and ending with the feet, with each chapter discussing anomalies specific to that organ or bone deformation. It's a lengthy journey of 56 chapters that requires a precise and rigorous educational path to diagnose such diseases. However, by following the "Ariadne's thread" represented by the "characteristic sign" and the help of a geneticist, the difficult task becomes feasible.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name as entry element
9 (RLIN) 64086
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name as entry element
9 (RLIN) 64942
650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name as entry element
9 (RLIN) 64086
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name as entry element
9 (RLIN) 64942
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Di Meglio, Aniello.
Relator term editor.
Relator code edt
-- http://id.loc.gov/vocabulary/relators/edt
9 (RLIN) 76698
710 2# - ADDED ENTRY--CORPORATE NAME
Corporate name or jurisdiction name as entry element SpringerLink (Online service)
773 0# - HOST ITEM ENTRY
Title Springer Nature eBook
776 08 - ADDITIONAL PHYSICAL FORM ENTRY
Relationship information Printed edition:
International Standard Book Number 9783031393464
776 08 - ADDITIONAL PHYSICAL FORM ENTRY
Relationship information Printed edition:
International Standard Book Number 9783031393488
776 08 - ADDITIONAL PHYSICAL FORM ENTRY
Relationship information Printed edition:
International Standard Book Number 9783031393495
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/978-3-031-39347-1">https://doi.org/10.1007/978-3-031-39347-1</a>
912 ## -
-- ZDB-2-SME
912 ## -
-- ZDB-2-SXM

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