Gastroschisis

2019 ◽  
pp. 153-156
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Risk Factors ◽  
Clinical Case ◽  
Body Wall ◽  
Recurrence Risk ◽  
Young Mothers ◽  
Case Presentation ◽  
Incidence Risk ◽  
Ruptured Omphalocele ◽  
Associated Abnormalities

This chapter reviews the incidence, risk factors, genetics, recurrence risk, epidemiology, and distinctive anatomy of gastroschisis. This abnormality is much more common in the offspring of young mothers and the overall incidence continues to rise worldwide. Other risk factors include short intrapregnancy intervals, smoking and several medications such as aspirin and ibuprophen. Associated abnormalities most frequently include intestinal atresias and strictures although other vascular disruptive defects, particularly the amyoplasia form of arthrogryposis, are seen in 3-10%. Distinquishing this defect from omphalocele is usually not difficult although a ruptured omphalocele may cause confusion. Ruling out limb-body wall disruption is important as the prognosis is vastly different. The clinical case presentation features an infant with amyoplasia and gastroschisis.

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.

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.

Twins

2019 ◽  
pp. 25-30
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Risk Factors ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Birth Defects ◽  
Congenital Heart ◽  
Clinical Case ◽  
Monozygotic Twins ◽  
Perinatal Complications ◽  
Case Presentation ◽  
Incidence Risk

This chapter reviews the incidence, risk factors, and epidemiology of disorders associated with twinning. The timing of twinning and the types of twins are reviewed. The fetal and perinatal complications of twinning including twin to twin transfusion and its treatment are discussed, as well as the possible consequences of death of a monozygotic co-twin. These include severe disruptive brain abnormalities, and other vascular disruptive defects. The birth defects more common in twins are enumerated and specific patterns of birth defects such as hemifacial macrosomia and VACTERL are discussed. A clinical case presentation features monozygotic twins with twin-to-twin transfusion syndrome and congenital heart disease.

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.

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.

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).

Perinatal Arterial Stroke

2019 ◽  
pp. 139-144
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Risk Factors ◽  
Fetal Monitoring ◽  
Recurrence Risk ◽  
Large For Gestational Age ◽  
Maternal Risk ◽  
Second Stage Of Labor ◽  
Pediatric Age Group ◽  
Hemiplegic Cerebral Palsy ◽  
Incidence Risk ◽  
Term Newborns

This chapter reviews the incidence, risk factors, genetics, recurrence risk, and epidemiology of perinatal arterial stroke (PAS). This type of stroke is distinct from later stroke in the pediatric age group. This disorder is the most common cause of hemiplegic cerebral palsy and the frequency has remained stable despite advances in fetal monitoring and liberal use of cCesarean section. Fetal and maternal risk factors include post-dates, large and small fetal size, chorioamnionitis, and a prolonged second stage of labor. Neonatal seizures are the most common presenting sign in term newborns. The role of thrombophilic factors in causation is controversial. COL4A1 and COL4A2 variants may mimic PAS and testing for this cause should be considered. Follow up of PAS needs to be long term as neurologic and ophthalmologic sequelae can be delayed. The clinical case features a large for gestational age, macrocephalic infant with a perinatal arterial stroke.

Microcephaly

2019 ◽  
pp. 109-114
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Recurrence Risk ◽  
Genetic Syndromes ◽  
Primary Microcephaly ◽  
Congenital Infections ◽  
Incidence Risk ◽  
Cornelia De Lange ◽  
Autosomal Recessive Primary Microcephaly

This chapter reviews the incidence, risk factors, genetics, recurrence risk, and epidemiology of isolated and syndromic microcephaly. The differential diagnosis of microcephaly includes multiple teratogenic agents such as alcohol, hyperthermia, maternal PKU, and new and old congenital infections as well as specific chromosome aneuploidies such as 4p- and 5p- where microcephaly is almost universally seen. Metabolic disorders include congenital disorders of glycosylation and pyruvate dehydrogenase deficiency. Multiple autosomal recessive primary microcephaly syndromes (MCPH) are being delineated. Important syndromes with microcephaly include Cornelia de Lange and Smith Lemli Opitz syndromes but many other complex genetic syndromes include microcephaly. A clinical case presentation features an infant with autosomal recessive primary microcephaly with an unknown genetic cause.

Sign in / Sign up

Export Citation Format

Share Document