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.

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.

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.

Hirschsprung Disease

2019 ◽  
pp. 167-170
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Risk Factors ◽  
Clinical Case ◽  
Hirschsprung Disease ◽  
Recurrence Risk ◽  
Background Information ◽  
Case Presentation ◽  
Common Causes ◽  
Incidence Risk ◽  
Total Intestinal Aganglionosis ◽  
Intestinal Aganglionosis

This chapter reviews background information about the incidence, risk factors, sex ratio, genetics, family history, recurrence risk, and epidemiology of the various types of isolated and syndromic Hirschsprung disease. Distinctions that characterize long segment, short segment, zonal, total colonic, and total intestinal aganglionosis are reviewed. The discussion on the differential diagnosis of Hirschsprung disease summarizes its common causes, including chromosome anomalies (Down syndrome and recurrent microdeletions), and Mendelian traits associated with isolated disease and syndromic aganglionosis with non-GI malformations. This chapter includes gives recommendations for evaluation and management. A clinical case presentation features an SGA microcephalic infant who failed to pass meconium with Goldberg–Shprintzen 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.

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.

Polydactyly

2019 ◽  
pp. 217-222
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Differential Diagnosis ◽  
Sex Ratio ◽  
Clinical Case ◽  
Renal Cysts ◽  
Recurrence Risk ◽  
Background Information ◽  
Case Presentation ◽  
Common Causes ◽  
Malformation Syndromes ◽  
Hands And Feet

This chapter reviews background information about the prevalence, sex ratio, genetics, recurrence risk and epidemiology of isolated and syndromic preaxial, postaxial and mesoaxial (central) polydactyly of the hands and feet. Various patterns of isolated and bilateral polydactyly and common associated malfomations (syndactyly, craniosynsostosis, GI anomalies, macrocephaly, mocrpcephaly, renal cysts) are described. The discussion on the differential diagnosis of polydactyly summarizes its common causes, including teratogenic agents, diabetic embryopathy, chromosome anomalies, and congenital malformation syndromes caused by Mendelian traits. It gives recommendations for evaluation and management. A clinical case presentation features an infant with tibial hypoplasia/aplasia with polydactyly (Werner mesomelic syndrome).

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.

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.

Arthrogryposis

2019 ◽  
pp. 191-196
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Quality Of Life ◽  
Risk Factors ◽  
Clinical Case ◽  
Treatment Options ◽  
Recurrence Risk ◽  
Case Presentation ◽  
Joint Mobilization ◽  
Intensive Use ◽  
Incidence Risk

This chapter reviews the incidence, risk factors, genetics, recurrence risk, and epidemiology of arthrogryposis. The most common and clinically recognizable type among the congenital contractures is amyoplasia, and treatment options are improving the quality of life for these patients. The distal arthrogryposes are mostly autosomal dominant and caused by an increasing number of genes including variants in PIEZ02 and MYH3 among several others. The lethal contracture syndromes have an expanding number of causes many of which are autosomal recessive. The majority of these conditions are recognized on US. In viable syndromes the early and intensive use of physical therapy is critical and can result in significant joint mobilization. The clinical case presentation features an infant with lethal multiple pterygia syndrome.

Upper Extremity Anomalies

2019 ◽  
pp. 203-210
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Valproic Acid ◽  
Differential Diagnosis ◽  
Upper Extremity ◽  
Clinical Case ◽  
Background Information ◽  
Amniotic Band ◽  
Case Presentation ◽  
Vascular Disruption ◽  
Common Causes ◽  
Malformation Syndromes

This chapter reviews background information about the incidence, epidemiology, genetics, and other anomalies associated with common congenital anomalies of the upper extremity. The discussion reviews the differential diagnosis of transverse, longitudinal (amelia, radial, ulnar), intercalary (phocomelia), and central (split hand/foot) defects of the radius and ulna and combined upper and lower extremity defects. The chapter summarizes common causes of upper extremity anomalies, including amniotic band disruption sequence, teratogenic agents (misoprostol, thalidomide, valproic acid), vascular disruption, chromosome anomalies, and Mendelian congenital malformation syndromes, and it gives recommendations for evaluation and management. A clinical case presentation features an infant with Holt–Oram syndrome.

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