Prenatal Diagnosis of Fetal Osteopathologies / edited by Aniello Di Meglio.

Format:

Book

Contributor:

Di Meglio, Aniello, editor.

Language:

English

Subjects (All):

Gynecology.

Diagnosis.

Local Subjects:

Gynecology.

Diagnosis.

Physical Description:

1 online resource (870 pages)

Edition:

1st ed. 2024.

Place of Publication:

Cham : Springer Nature Switzerland : Imprint: Springer, 2024.

Summary:

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.

Contents:

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.

Notes:

Includes bibliographical references and index.

ISBN:

3-031-39347-3

OCLC:

1434171425