Ear Anomalies

2019 ◽  
pp. 63-68
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Maternal Diabetes ◽  
Recurrence Risk ◽  
Treacher Collins Syndrome ◽  
Background Information ◽  
Hemifacial Microsomia ◽  
Mendelian Disorders ◽  
Organ Systems ◽  
Common Causes ◽  
Incidence Risk ◽  
Ear Anomalies

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, family history and epidemiology of isolated and syndromic ear anomalies. The discussion on the differential diagnosis of ear anomalies summarizes its common causes, including teratogenic agents (isotretinoin, maternal diabetes, mycophenylate), chromosome anomalies (aneuploidy, 22q11 deletion), common sporadic multiple congenital anomaly syndromes (Hemifacial microsomia/Goldenhar), and Mendelian disorders that are primarily craniofacial (Treacher-Collins and other mandibulofacial dysostoses) and others that include malformations in other organ systems (CHARGE). The chapter gives recommendations for evaluation and management. A clinical case presentation features a child with mycophenylate embryopathy, who had been incorrectly diagnosed with Treacher Collins syndrome.

Cleft Palate

2019 ◽  
pp. 85-90
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Cleft Palate ◽  
Maternal Diabetes ◽  
Recurrence Risk ◽  
Background Information ◽  
Mendelian Disorders ◽  
Organ Systems ◽  
Common Causes ◽  
Incidence Risk ◽  
Pierre Robin ◽  
Nasal Regurgitation

This chapter reviews background information about the incidence, risk factors, family history, sex ratio, genetics, recurrence risk, and epidemiology of isolated and syndromic cleft palate. Microforms of cleft palate including bifid uvula, submucous cleft palate, and nasal regurgitation are described. The discussion on the differential diagnosis of cleft palate summarizes its common causes, including teratogenic agents (alcohol, maternal diabetes, valproic acid), chromosome anomalies, and Mendelian disorders associated with malformations in other organ systems. The chapter provides recommendations for evaluation and management. A clinical case presentation features an infant with micrognathia, a cleft of the soft palate, and a retropositioned tongue and respiratory distress due to Pierre–Robin sequence.

Heterotaxy

2019 ◽  
pp. 57-60
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Primary Cilia ◽  
Maternal Diabetes ◽  
Recurrence Risk ◽  
Background Information ◽  
Organ Systems ◽  
Common Causes ◽  
Incidence Risk ◽  
Situs Ambiguous ◽  
The Relationship ◽  
Ciliary Dyskinesia

This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of heterotaxy and disorders of situs, including polysplenia and asplenia. The relationship between heterotaxy and dysfunction of non-motile primary cilia is explained. The discussion on the differential diagnosis of heterotaxy summarizes its common causes, including teratogenic agents, chromosome anomalies (maternal diabetes mellitus), and Mendelian disorders in which heterotaxy occurs with various patterns (TAPVR) and in association with malformations in other organ systems (Agnathia-Otocephaly). The chapter gives recommendations for evaluation and management. A clinical case presentation features an infant with situs ambiguous and asplenia who had unexpected respiratory distress after surgery due to primary ciliary dyskinesia.

Neural Tube Defects

2019 ◽  
pp. 133-138
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Clinical Case ◽  
Recurrence Risk ◽  
Background Information ◽  
Case Presentation ◽  
Mendelian Disorders ◽  
Organ Systems ◽  
Common Causes ◽  
Incidence Risk

This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of isolated and syndromic neural tube defects. The various subtypes of NTD are described including common, lethal and rare presentations such as sacral agenesis and anterior meningomyelocele. Prenatal therapy with in utero surgery is addressed. The discussion on the differential diagnosis of neural tube defects summarizes its common causes, including teratogenic agents, chromosome anomalies (trisomy 18), and Mendelian disorders that cause isolated NTDs and syndromic NTDs that are associated with malformations in other organ systems. The chapter gives recommendations for evaluation and management. A clinical case presentation features an infant with a lumbosacral meningomyelocele caused by valproic acid embryopathy.

Holoprosencephaly

2019 ◽  
pp. 121-126
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Choanal Atresia ◽  
Copy Number Variants ◽  
Maternal Diabetes ◽  
Recurrence Risk ◽  
Background Information ◽  
Maxillary Central Incisor ◽  
Organ Systems ◽  
Common Causes ◽  
Incidence Risk ◽  
Pyriform Aperture

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, and epidemiology of isolated and syndromic holoprosencephaly, including a summary of its subtypes and microforms (solitary median maxillary central incisor, absent midline frenulum, choanal atresia, pyriform aperture stenosis). The discussion on the differential diagnosis of holoprosencephaly summarizes its common causes, including teratogenic agents (maternal diabetes), chromosome anomalies (aneuploidy, recurrent copy number variants), and Mendelian disorders in which holoprosencephaly is isolated or associated with malformations in other organ systems. This chapter offers recommendations for evaluation and management. A clinical case presentation features an infant with transient neonatal hypernatremia, who was later diagnosed with lobar holoprosencephaly after presenting with dehydration due to diabetes insipidus.

Eye Anomalies

2019 ◽  
pp. 69-78
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Vitamin A Deficiency ◽  
Copy Number Variants ◽  
Male Infant ◽  
Recurrence Risk ◽  
Background Information ◽  
Mendelian Disorders ◽  
Organ Systems ◽  
Common Causes ◽  
Incidence Risk ◽  
Corneal Opacities

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, and epidemiology of various isolated and syndromic congenital eye anomalies that are apparent in the newborn including anophthalmia, microphthalmia, aniridia, coloboma, cataracts, corneal opacities, and ptosis. The discussion on the differential diagnosis of ocular anomalies summarizes its common causes, including teratogenic agents (alcohol, retinoic acid, rubella, Vitamin A deficiency), chromosome anomalies (aneuploidy, copy number variants), and Mendelian disorders that include multiple congenital anomalies in other organ systems. The chapter provides recommendations for evaluation and management. A clinical case presentation features a dysmorphic male infant with bilateral microphthalmia and opaque corneas who has Lenz microphthalmia syndrome.

Hydrocephalus

2019 ◽  
pp. 127-132
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Copy Number ◽  
Viral Infections ◽  
Copy Number Variants ◽  
Recurrence Risk ◽  
Background Information ◽  
Inflammatory Disorder ◽  
Organ Systems ◽  
Common Causes ◽  
Incidence Risk ◽  
K Deficiency

This chapter reviews background information about the incidence, risk factors, sex ratio, genetics, recurrence risk, and epidemiology of isolated and syndromic hydrocephalus. Extrinsic causes of hydrocephalus are discussed including prematurity, hemorrhage, maternal Vitamin K deficiency. The discussion on the differential diagnosis of hydrocephalus summarizes its common causes, including teratogenic agents (LCMV, TORCH, parvovirus and other viral infections, isotretinoin, misoprostol), chromosome anomalies (trisomy 9, triploidy, copy number variants), and Mendelian disorder in which hydrocephaly occurs with other CNS anomalies or associated with malformations in other organ systems. The chapter offers recommendations for evaluation and management. A clinical case presentation features an infant with hydrocephalus, ectopic calcifications, a rash and consumptive thrombopenia caused by neonatal-onset multisystem inflammatory disorder.

Craniosynostoses

2019 ◽  
pp. 91-100
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Clinical Case ◽  
Recurrence Risk ◽  
Background Information ◽  
Case Presentation ◽  
Mendelian Disorders ◽  
Common Causes ◽  
Incidence Risk ◽  
Maternal Thyroid ◽  
The Relationship ◽  
Single Suture

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, and epidemiology of single suture and multiple suture craniosynostosis including isolated and syndromic varieties. The discussion on the differential diagnosis of craniosynostosis summarizes its common causes, including teratogenic agents (fluconazole, maternal thyroid disorders, methotrexate, valproic acid), chromosome anomalies, and Mendelian disorders that involve extracranial malformations. The relationship between premature closure of cranial sutures of postnatal onset and positional plagiocephaly, prematurity, and microcephaly are examined. This chapter provides recommendations for testing, evaluation and management. A clinical case presentation features an infant with Saethre–Chotzen syndrome, whose mildly affected relatives had not been diagnosed.

Omphalocele

2019 ◽  
pp. 157-162
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Single Gene ◽  
Uniparental Disomy ◽  
Maternal Diabetes ◽  
Recurrence Risk ◽  
Background Information ◽  
Abdominal Wall Defects ◽  
Cloacal Exstrophy ◽  
Single Gene Disorders ◽  
Common Causes ◽  
Incidence Risk

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, and epidemiology of isolated and syndromic omphalocele. The distinct anatomy of omphalocele is contrasted with other types of abdominal wall defects such as umbilical hernia, gastroschisis, cloacal exstrophy, and limb-body wall complex. The discussion on the differential diagnosis of omphalocele summarizes its common causes, including environmental and teratogenic agents (ART, maternal diabetes, SSRI, valproic acid), chromosome anomalies (aneuploidy, tetrasomy 12p, UPD14), and single gene disorders that feature multiple congenital anomalies. The chapter gives recommendations for evaluation and management. A clinical case presentation features an infant with omphalocele and a narrow bell shaped thorax with “coat hanger” ribs caused by paternal uniparental disomy for chromosome 14.

Syndactyly

2019 ◽  
pp. 223-228
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Clinical Case ◽  
Recurrence Risk ◽  
Background Information ◽  
Facial Dysmorphism ◽  
Multiple Congenital Anomaly ◽  
Case Presentation ◽  
Bony Fusion ◽  
Common Causes ◽  
Incidence Risk ◽  
Associated Malformations

This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, epidemiology, and some subtypes of syndactyly. Various unilateral and bilateral patterns of syndactyly, including common autosomal dominant isolated cutaneous syndactyly and rarer presentations of complex syndactyly with bony fusion, are reviewed. Associated malformations, such as small size, microcephaly, craniosynostois, facial dysmorphism, and other limb anomalies, that are often seen with syndactyly are presented. The discussion on the differential diagnosis of syndactyly summarizes its common causes, including teratogenic agents, chromosome anomalies, and Mendelian multiple congenital anomaly syndromes, and it gives recommendations for evaluation and management. A clinical case presentation features an infant with oculo-dento-digital dysplasia.

Diaphragmatic Hernia

2019 ◽  
pp. 147-152
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Diaphragmatic Hernia ◽  
Single Gene ◽  
Copy Number Variants ◽  
Recurrence Risk ◽  
Background Information ◽  
Large For Gestational Age ◽  
Radiographic Appearance ◽  
Single Gene Disorders ◽  
Organ Systems ◽  
Incidence Risk

This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of isolated and syndromic diaphragmatic hernia. The chapter reviews the typical multifactorial inheritance pattern of isolated sporadic diaphragmatic hernia and its low recurrence risk, which is distinct from more complex single gene disorders. The discussion on the differential diagnosis of diaphragmatic hernia summarizes other intrathoracic disorders that can give a similar radiographic appearance. The common genetic causes of diaphragmatic hernia are discussed including chromosome anomalies (aneuploidy, mosaic tetrasomy 12p, recurrent copy number variants), and Mendelian disorders that include malformations in other organ systems and overgrowth conditions. The chapter gives recommendations for evaluation and management. A clinical case presentation features a large for gestational age infant with diaphragmatic hernia and bitemporal alopecia caused by Pallister–Killian syndrome.

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