Prenatal Diagnosis of Orofacial Malformations 1st edition by Gabriele Tonni,Waldo Sepulveda,Amy Wong 9783319325149 3319325140

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 T

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

2.1 Introduction

2.2 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 Trimester

3.1 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 Palate

4.1 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 Anatom

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 Examination

5.3 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

6.3.3 Embryology and Pathology

6.3.4 Diagnosis

6.3.5 Associated Anomalies

6.3.6 Prognosis

6.3.7 Recurrence Risk

6.4 Tumors of the Tongue and Gingiva

6.4.1 Embryology and Pathology

6.4.2 Diagnosis

6.4.3 Associated Anomalies

6.4.4 Prognosis

6.4.5 Management

6.4.6 Recurrence Risk

6.4.7 Embryology and Pathology

6.4.8 Diagnosis

6.4.9 Associated Anomalies

6.4.10 Prognosis

6.4.11 Recurrence Risk

6.4.12 Recurrence Risk

6.5 Teratoma of the Tongue

6.5.1 Embryology and Pathology

6.5.2 Diagnosis

6.5.3 Management

6.6 Tumors of the Neck

6.6.1 Embryology and Pathology

6.6.2 Diagnosis

6.6.3 Management

6.6.4 Genetics

6.6.5 Diagnosis

6.6.6 Management

6.7 Hemangioma and Lymphangioma

6.7.1 Embryology and Pathology

6.7.2 Diagnosis

6.7.3 Associated Anomalies

6.7.4 Prognosis

6.7.5 Management

6.7.6 Recurrence Risk

References

7: Micrognathia

7.1 Introduction

7.2 Genetic Syndromes Associated with Micrognathia

7.2.1 Pierre Robin Syndrome

7.2.2 Neu–Laxova Syndrome

7.2.3 Wolf–Hirschhorn Syndrome

7.2.4 Cornelia de Lange Syndrome

7.2.5 Nager Syndrome

7.2.6 Femoral–Facial or Femoral Hypoplasia–Unusual Facies Syndrome

7.2.7 Larsen Syndrome

7.2.8 Treacher Collins Syndrome

7.2.9 Pena–Shokeir Syndrome

References

8: Magnetic Resonance Imaging (MRI) in the Evaluation of the Fetal Face

8.1 Introduction

8.2 Technical Aspects

8.3 Fetal MRI in Congenital Facial Anomalies

8.3.1 Cleft Lip and Palate

8.3.1.1 MRI Examination

8.3.2 Abnormal Orbits

8.3.2.1 Anophthalmia

8.3.2.2 Microphthalmia

8.3.2.3 Hypertelorism

8.3.2.4 Hypotelorism

8.3.2.5 Proptosis and Exophthalmos

MRI Examination

8.3.3 Abnormal Mandible

8.3.3.1 Micrognathia and Retrognathia

MRI Examination

8.4 Tumors of the Fetal Face and Neck

8.4.1 Lymphatic Malformation

8.4.2 Teratomas

8.4.3 Congenital Hemangiomas

8.4.3.1 MRI Examination

References

9: The Fetal Brain in Fetuses with Orofacial Abnormalities

9.1 Neurulation Disorders

9.2 Disorders of Prosencephalic Development

9.3 Disorders of Cortical Development

9.3.1 Microcephaly

9.3.2 Macrocephaly

9.3.3 Migration Disorders

9.3.4 Cerebellar Anomalies

References

10: Development and Autopsy Assessment of the Fetal Head and Face

10.1 Overview

10.2 Developmental Aspects of the Head and Face

10.2.1 Neural Development

10.2.2 Skull Development

10.2.3 Overview of Facial Development

10.2.4 Branchial/Pharyngeal Apparatus

10.2.5 Formation of the Central Facial Structures

10.2.6 Tongue

10.2.7 Thyroid Gland

10.2.8 Ears

10.2.9 Eyes

10.2.10 Teeth

10.3 Approach to Autopsy Assessment of the Head and Face

10.3.1 Tumors

References

11: Postnatal Management of Cleft Lip and Palate

11.1 Introduction

11.2 Embryology

11.3 Diagnosis

11.4 Classification

11.5 Clinical Aspect – Breast Feeding

11.6 Surgical Treatment

11.6.1 Cleft Lip Correction

11.6.2 Lip Adhesion

11.6.3 Palatoplasty

11.6.4 Alveolar Bone Graft

11.6.5 Rhinoseptoplasty

11.6.6 Orthognathic Surgery

11.7 Complications

11.7.1 Palate Dehiscence

11.7.2 Loss of Alignment of the Cheiloplasty

11.7.3 Velopharyngeal Insufficiency

11.8 Multidisciplinary Care

11.8.1 Nurse

11.8.2 Pediatrician

11.8.3 Geneticist

11.8.4 ENT

11.8.5 Odontologist

11.8.6 Speech Therapist

References

Part II: Interesting Cases and Rare Syndromes

12: Binder Syndrome: Prenatal Diagnosis, Management, and Prognosis

12.1 Introduction

12.2 Case Description

12.3 Prenatal Diagnosis

12.4 Differential Diagnosis

12.5 Management and Prognosis

References

13: Atypical Facial Cleft Detected by Prenatal Scan and Confirmed by Postmortem Reconstructive Co

13.1 Introduction

13.2 Case Description

13.3 Discussion

References

14: Congenital Subcutaneous Mixed Venous-Lymphatic Orofacial Malformation Associated with Macrogloss

14.1 Introduction

14.2 Case Description

14.3 Discussion

References

15: Acromelic Frontonasal Dysplasia (Median Cleft Face Syndrome)

15.1 Introduction

15.2 Case Description

15.3 Discussion

References

16: Prenatal Diagnosis of Severe Midfacial Hypoplasia Using 3D Ultrasound

16.1 Introduction

16.2 Case Description

16.3 Discussion

References

17: 3D Virtual Model Reconstruction by 3D Ultrasound Volume Data Sets in a Case of Prenatally Dia

17.1 Introduction

17.2 Case Description

17.3 Discussion

References

18: Unilateral Agenesis of the Mandible (Agnathia) in a Fetus with 4p-/10q Duplication Associated wi

18.1 Introduction

18.2 Case Description

18.3 Discussion

References

19: Prenatal Diagnosis of Beckwith-­Wiedemann Syndrome Using 3D Ultrasound and Fetal MRI

19.1 Introduction

19.2 Case Description

19.3 Discussion

References

20: Prenatal Diagnosis of Tessier 7 Cleft in a Case of Femoral Hypoplasia-Unusual Facies Syndrom

20.1 Introduction

20.2 Case Description

20.3 Discussion

References

21: Median Cleft Lip and Palate, Cutaneous Nasal Polyps, and Corpus Callosum Lipoma: A Case of P

21.1 Introduction

21.2 Case Description

21.3 Discussion