Prenatal diagnosis of orofacial malformations
Prenatal diagnosis of orofacial malformations
Gabriele Tonni, Waldo Sepulveda, Amy E. Wong, editors.
- 1 recurso en línea
SpringerLink
Foreword; Preface; Contents; Contributors; Part I: Prenatal Diagnosis of Orofacial Malformations; 1: Orofacial Clefts in the Fetus: What We Know and What We Should Know; 1.1 Introduction; 1.2 Epidemiology and Incidence; 1.3 Genetics of Orofacial Clefts; 1.4 Associated Fetal Malformations; 1.5 Accuracy of 2D and 3D Ultrasound in the Prenatal Detection of CL/P: First Versus Second Trimester of Pregnancy; 1.6 The Role of 2D Ultrasound; 1.7 The Role of 3D Ultrasound; 1.8 The Role and Value of Ultrasound-Targeted MRI (Magnetic Resonance Imaging); References; 2: The Genetics of Facial Cleft. Prenatal diagnosis of orofacial malformations. Orofacial clefts in the fetus: what we know and what we should know / The genetics of facial cleft / Evaluation of the fetal face in the first trimester / 2D/3D/4D ultrasound of the fetal face in genetic syndromes -- Prenatal diagnosis of head and neck tumors / Micrognathia / Magnetic resonance imaging (MRI) in the evaluation of the fetal face / The fetal brain in fetuses with orofacial abnormalities / Development and autopsy assessment of the head and face / Interesting cases and rare syndromes. Binder Syndrome: prenatal diagnosis, management, and prognosis / Atypical facial cleft detected by prenatal scan and confirmed by postmortem reconstructed computed tomography (CT REC) / Congential subcutaneous mixed venous-lymphatic orofacial malformation associated with macroglossia: prenatal diagnosis with ultrasound and fetal MRI / Acromelic frontonasal dysplasia (median cleft face syndrome) / Prenatal diagnosis of severe midfacial hypoplasia using 3D ultrasound / 3D virtual model reconstruction by 3D ultrasound volume data sets in a case of prenatally diagnosed agnathia/otocephaly complex associated with multiple congenital anomalies / Unilateral agenesis of the mandible (agnathia) in a fetus with 4p-/10q duplication associated with balanced paternal cryptic 4p/10q translocation: multidisciplinary management of a complex case / Prenatal diagnosis of Beckwith-Wiedemann syndrome using 3D ultrasound and fetal MRI / Prenatal diagnosis of Tessier 7 cleft in a case of femoral hypoplasia-unusual facies syndrome with associated absent fibula and digit abnormalities / Median cleft lip and palate, cutaneous nasal polyps, and corpus callosum lipoma: a case of Pai syndrome associated with ventricular septal defects / Gabriele Tonni, Waldo Sepulveda, Amy E. Wong -- Arie Koifman, Susan Blaser, David Chitayat -- Waldo Sepulveda, Amy E. Wong, Pilar Martínez-Ten, Gabriele Tonni -- Pilar Martínez-Ten, Waldo Sepulveda, Amy E. Wong, Gabriele Tonni -- Gabriele Tonni, Marcella Palmisano, Roberto Granese, Maria Paola Bonasoni -- Edward Aruajo Júnior, Eduardo Felix Martins Santana, Gabriele Tonni, Amy E. Wong, Waldo Sepulveda -- Francisco Sepulveda, Gerlinde M. Gruber, Daniela Prayer -- Gustavo Malinger -- J. Ciaran Hutchinson, Neil J. Sebire -- Fabio Xerfan Nahas, Natasha Sallum, Lydia Masako Ferreira -- Edward Araujo Júnio, Gabriele Tonni, Waldo Sepulveda -- Inbal Dona Amar, Yaakov Melcer, Rebecca Cohn, Ron Maymon -- Marcello Napolitano, Alice Munari, Anna Ravelli, Anna Venegoni -- Mario Lituania, Gabriele Tonni -- Gabriele Tonni, Jurandir Piassi Passos, Mario Lituania -- Heron Werner, Gabriele Tonni, Gláucia Aparecida Menezes, Edward Araujo Júnior -- Lucia Rosignoli, Gabriele Tonni, Elisabetta Pelo, Marco di Maurizio -- Heron Werner, Gabriele Tonni -- Gianpaolo Grisolia, Gabriele Tonni -- Jose H. Ochoa, Rolando P. Vildoza, Adriana Echegaray, Alejandra Colubriale. Part 1. Chapter 1. Chapter 2. Chapter 3. Chapter 4. The role of 2D/3D/4D ultrasound in the prenatal assessment of cleft lip and palate / Chapter 5. Chapter 6. Chapter 7. Chapter 8. Chapter 9. Chapter 10. Chapter 11. Postnatal management of cleft lip and palate / Part 2. Chapter 12. Chapter 13. Chapter 14. Chapter 15. Chapter 16. Chapter 17. Chapter 18. Chapter 19. Chapter 20. Chapter 21. 2.1 Introduction2.2 Embryology; 2.2.1 Development of the Face; 2.3 Non-syndromic Cleft Lip/Cleft Palate and Cleft Palate; 2.4 Syndromic Cleft Lip/Palate and Cleft Palate; 2.4.1 Chromosomal Abnormalities; 2.4.2 Microdeletion/Microduplication Syndromes; 2.5 Mendelian Syndromes Associated with Cleft Lip/Palate; 2.5.1 Autosomal Dominant (AD); 2.5.2 Autosomal Recessive (AR); 2.5.3 X-Linked; 2.5.4 Facial Clefts; 2.5.5 Midline Clefts; 2.5.6 Oblique Clefts; 2.5.7 Lateral Clefts; 2.6 Summary and Recommendations; 2.7 Investigation; References. 3: Evaluation of the Fetal Face in the First Trimester3.1 Introduction; 3.2 Normal Ultrasound Anatomy of the Fetal Face in the First Trimester; 3.3 Retronasal Triangle View; 3.4 3D Ultrasound Evaluation of the Fetal Face in the First Trimester; 3.5 First-Trimester 2D/3D Ultrasound in Selected Facial Malformations; 3.5.1 Cleft Lip and Palate; 3.5.2 Micrognathia; 3.5.3 Cyclopia and Proboscis; 3.5.4 Frontal Cephalocele; 3.5.5 Agnathia-Holoprosencephaly Sequence; 3.5.6 Miscellaneous Conditions; References. 4: The Role of 2D/3D/4D Ultrasound in the Prenatal Assessment of Cleft Lip and Palate4.1 Introduction; 4.2 Assessment with 2D ultrasound; 4.3 Exploration with 3D ultrasound; 4.3.1 "Reverse Face" View; 4.3.2 "Flipped Face" View; 4.3.3 "Oblique Face" View; 4.4 Do We Need to Include the 3D Ultrasound Evaluation of the Secondary Palate in the Anatomy Assessment in the Second Trimester?; References; 5: 2D/3D/4D Ultrasound of the Fetal Face in Genetic Syndromes; 5.1 Introduction; 5.2 The Dysmorphology Examination; 5.2.1 The Face; 5.2.2 Profile Views; 5.2.3 Coronal Views. 5.2.4 The Rest of the Examination5.3 Facial Malformation as a Sign of a Complex Syndrome; 5.3.1 The Cleft Lip-Palate; 5.3.2 Abnormalities of the Ears; 5.3.3 Micrognathia; 5.3.4 Profile Abnormalities; 5.4 Down Syndrome; 5.5 Binder Syndrome; 5.5.1 Associated Malformations; 5.5.1.1 Skin and Skeleton; References; 6: Prenatal Diagnosis of Orofacial and Neck Tumors; 6.1 Tumor of the Face; 6.2 Vascular Anomalies; 6.2.1 Embryology and Pathology; 6.2.2 Embryology and Pathology; 6.3 Tumors of the Oral Cavity and Oropharynx Teratomas; 6.3.1 Classification; 6.3.2 Embryology and Pathology.
This book describes how different diagnostic techniques may facilitate the prenatal identification of orofacial malformations. The role of standard two-dimensional ultrasound is documented and explained, but detailed attention is also paid to the use of three-dimensional (3D) ultrasound, including the novel 3D reslicing technique, and to the value of complementary magnetic resonance imaging. The malformations considered include cleft lip, cleft lip and palate, ocular malformations, abnormalities associated with fetal aneuploidy, and tumors. These conditions are depicted in numerous high-quality images accompanied by thorough and informative descriptions of imaging findings. The excellence of the illustrative material and the caliber of the authors, who are leading international experts in the field, ensure that Prenatal Diagnosis of Orofacial Malformations will be an invaluable tool for obstetricians and gynecologists.
3319325167 9783319325163
Perinatología
Obstetricia
RG627 / 2017 EB
SpringerLink
Foreword; Preface; Contents; Contributors; Part I: Prenatal Diagnosis of Orofacial Malformations; 1: Orofacial Clefts in the Fetus: What We Know and What We Should Know; 1.1 Introduction; 1.2 Epidemiology and Incidence; 1.3 Genetics of Orofacial Clefts; 1.4 Associated Fetal Malformations; 1.5 Accuracy of 2D and 3D Ultrasound in the Prenatal Detection of CL/P: First Versus Second Trimester of Pregnancy; 1.6 The Role of 2D Ultrasound; 1.7 The Role of 3D Ultrasound; 1.8 The Role and Value of Ultrasound-Targeted MRI (Magnetic Resonance Imaging); References; 2: The Genetics of Facial Cleft. Prenatal diagnosis of orofacial malformations. Orofacial clefts in the fetus: what we know and what we should know / The genetics of facial cleft / Evaluation of the fetal face in the first trimester / 2D/3D/4D ultrasound of the fetal face in genetic syndromes -- Prenatal diagnosis of head and neck tumors / Micrognathia / Magnetic resonance imaging (MRI) in the evaluation of the fetal face / The fetal brain in fetuses with orofacial abnormalities / Development and autopsy assessment of the head and face / Interesting cases and rare syndromes. Binder Syndrome: prenatal diagnosis, management, and prognosis / Atypical facial cleft detected by prenatal scan and confirmed by postmortem reconstructed computed tomography (CT REC) / Congential subcutaneous mixed venous-lymphatic orofacial malformation associated with macroglossia: prenatal diagnosis with ultrasound and fetal MRI / Acromelic frontonasal dysplasia (median cleft face syndrome) / Prenatal diagnosis of severe midfacial hypoplasia using 3D ultrasound / 3D virtual model reconstruction by 3D ultrasound volume data sets in a case of prenatally diagnosed agnathia/otocephaly complex associated with multiple congenital anomalies / Unilateral agenesis of the mandible (agnathia) in a fetus with 4p-/10q duplication associated with balanced paternal cryptic 4p/10q translocation: multidisciplinary management of a complex case / Prenatal diagnosis of Beckwith-Wiedemann syndrome using 3D ultrasound and fetal MRI / Prenatal diagnosis of Tessier 7 cleft in a case of femoral hypoplasia-unusual facies syndrome with associated absent fibula and digit abnormalities / Median cleft lip and palate, cutaneous nasal polyps, and corpus callosum lipoma: a case of Pai syndrome associated with ventricular septal defects / Gabriele Tonni, Waldo Sepulveda, Amy E. Wong -- Arie Koifman, Susan Blaser, David Chitayat -- Waldo Sepulveda, Amy E. Wong, Pilar Martínez-Ten, Gabriele Tonni -- Pilar Martínez-Ten, Waldo Sepulveda, Amy E. Wong, Gabriele Tonni -- Gabriele Tonni, Marcella Palmisano, Roberto Granese, Maria Paola Bonasoni -- Edward Aruajo Júnior, Eduardo Felix Martins Santana, Gabriele Tonni, Amy E. Wong, Waldo Sepulveda -- Francisco Sepulveda, Gerlinde M. Gruber, Daniela Prayer -- Gustavo Malinger -- J. Ciaran Hutchinson, Neil J. Sebire -- Fabio Xerfan Nahas, Natasha Sallum, Lydia Masako Ferreira -- Edward Araujo Júnio, Gabriele Tonni, Waldo Sepulveda -- Inbal Dona Amar, Yaakov Melcer, Rebecca Cohn, Ron Maymon -- Marcello Napolitano, Alice Munari, Anna Ravelli, Anna Venegoni -- Mario Lituania, Gabriele Tonni -- Gabriele Tonni, Jurandir Piassi Passos, Mario Lituania -- Heron Werner, Gabriele Tonni, Gláucia Aparecida Menezes, Edward Araujo Júnior -- Lucia Rosignoli, Gabriele Tonni, Elisabetta Pelo, Marco di Maurizio -- Heron Werner, Gabriele Tonni -- Gianpaolo Grisolia, Gabriele Tonni -- Jose H. Ochoa, Rolando P. Vildoza, Adriana Echegaray, Alejandra Colubriale. Part 1. Chapter 1. Chapter 2. Chapter 3. Chapter 4. The role of 2D/3D/4D ultrasound in the prenatal assessment of cleft lip and palate / Chapter 5. Chapter 6. Chapter 7. Chapter 8. Chapter 9. Chapter 10. Chapter 11. Postnatal management of cleft lip and palate / Part 2. Chapter 12. Chapter 13. Chapter 14. Chapter 15. Chapter 16. Chapter 17. Chapter 18. Chapter 19. Chapter 20. Chapter 21. 2.1 Introduction2.2 Embryology; 2.2.1 Development of the Face; 2.3 Non-syndromic Cleft Lip/Cleft Palate and Cleft Palate; 2.4 Syndromic Cleft Lip/Palate and Cleft Palate; 2.4.1 Chromosomal Abnormalities; 2.4.2 Microdeletion/Microduplication Syndromes; 2.5 Mendelian Syndromes Associated with Cleft Lip/Palate; 2.5.1 Autosomal Dominant (AD); 2.5.2 Autosomal Recessive (AR); 2.5.3 X-Linked; 2.5.4 Facial Clefts; 2.5.5 Midline Clefts; 2.5.6 Oblique Clefts; 2.5.7 Lateral Clefts; 2.6 Summary and Recommendations; 2.7 Investigation; References. 3: Evaluation of the Fetal Face in the First Trimester3.1 Introduction; 3.2 Normal Ultrasound Anatomy of the Fetal Face in the First Trimester; 3.3 Retronasal Triangle View; 3.4 3D Ultrasound Evaluation of the Fetal Face in the First Trimester; 3.5 First-Trimester 2D/3D Ultrasound in Selected Facial Malformations; 3.5.1 Cleft Lip and Palate; 3.5.2 Micrognathia; 3.5.3 Cyclopia and Proboscis; 3.5.4 Frontal Cephalocele; 3.5.5 Agnathia-Holoprosencephaly Sequence; 3.5.6 Miscellaneous Conditions; References. 4: The Role of 2D/3D/4D Ultrasound in the Prenatal Assessment of Cleft Lip and Palate4.1 Introduction; 4.2 Assessment with 2D ultrasound; 4.3 Exploration with 3D ultrasound; 4.3.1 "Reverse Face" View; 4.3.2 "Flipped Face" View; 4.3.3 "Oblique Face" View; 4.4 Do We Need to Include the 3D Ultrasound Evaluation of the Secondary Palate in the Anatomy Assessment in the Second Trimester?; References; 5: 2D/3D/4D Ultrasound of the Fetal Face in Genetic Syndromes; 5.1 Introduction; 5.2 The Dysmorphology Examination; 5.2.1 The Face; 5.2.2 Profile Views; 5.2.3 Coronal Views. 5.2.4 The Rest of the Examination5.3 Facial Malformation as a Sign of a Complex Syndrome; 5.3.1 The Cleft Lip-Palate; 5.3.2 Abnormalities of the Ears; 5.3.3 Micrognathia; 5.3.4 Profile Abnormalities; 5.4 Down Syndrome; 5.5 Binder Syndrome; 5.5.1 Associated Malformations; 5.5.1.1 Skin and Skeleton; References; 6: Prenatal Diagnosis of Orofacial and Neck Tumors; 6.1 Tumor of the Face; 6.2 Vascular Anomalies; 6.2.1 Embryology and Pathology; 6.2.2 Embryology and Pathology; 6.3 Tumors of the Oral Cavity and Oropharynx Teratomas; 6.3.1 Classification; 6.3.2 Embryology and Pathology.
This book describes how different diagnostic techniques may facilitate the prenatal identification of orofacial malformations. The role of standard two-dimensional ultrasound is documented and explained, but detailed attention is also paid to the use of three-dimensional (3D) ultrasound, including the novel 3D reslicing technique, and to the value of complementary magnetic resonance imaging. The malformations considered include cleft lip, cleft lip and palate, ocular malformations, abnormalities associated with fetal aneuploidy, and tumors. These conditions are depicted in numerous high-quality images accompanied by thorough and informative descriptions of imaging findings. The excellence of the illustrative material and the caliber of the authors, who are leading international experts in the field, ensure that Prenatal Diagnosis of Orofacial Malformations will be an invaluable tool for obstetricians and gynecologists.
3319325167 9783319325163
Perinatología
Obstetricia
RG627 / 2017 EB