Preface

Congenital anomalies constitute a large group of diverse biochemical, functional, and structural defects presenting at birth. They are caused by a myriad of inherently unrelated etiopathogenic factors, categorized into genetic, environmental, infectious, nutritional, and metabolic. In a significant number of cases, the etiology remains unidentified. The malformations may be isolated, involve a single organ system, or be multisystemic. The defect may be benign, not requiring any intervention, or severe enough to be fatal at or after birth, the life span depending variably upon the diagnosis. The outcome may range from inconsequential to devastating and impart immense medical, social, emotional, and financial burden to the family. The management might be medical, surgical, none, or both, and the surgical procedure lifesaving or mere cosmetic. With such a broad spectrum of clinical presentation, management principles, and socio-economic implications, including all deformities in a single volume is beyond the scope of this book.

We begin with an introductory chapter that includes epidemiology, clinical evaluation, investigational procedures, and the recurrence risk assessment of congenital anomalies. The following two chapters discuss the etiopathogenesis of congenital malformations and highlight the diversity in their origin. The successive chapters review some of the most complex malformations selected from the major organ systems for their anatomy, pathophysiology, and current management principles. Finally, to underscore the geographical variabilities, we include a chapter on the demographic analysis of the common congenital malformations in Africa. I am grateful to the esteemed authors for their time and effort in sharing their expertise on the selected topics. Without their collaboration, this book would not have been possible. I am also grateful to the entire team of publishers that have tirelessly worked towards the book's successful publication.

I dedicate this effort to my father, Mr. Shib Chandra Prasad, and my mother, Mrs. Sita Pati Prasad, since deceased, for their support, role modeling, and unconditional love. Our journey together was brief but most formative and impactful.

**II**

**Chapter 10 181**

**Chapter 11 197**

Fetal Congenital Anomalies in Africa: Diagnostic and Management

Wiskott-Aldrich Syndrome

*by Labaran Dayyabu Aliyu*

*by Saeed Sepehrnia*

Challenges

**Rita Prasad Verma, M.D., F.A.A.P.** Professor of Clinical Pediatrics, Nassau University Medical Center, East Meadow, NY, USA

**1**

**Figure 1.**

*Infant mortality per 100,000 live births in the United States.*

**Chapter 1**

Anomalies

*Rita Prasad Verma*

**1. Introduction**

Introductory Chapter:

Epidemiology, Evaluation and

Risk Assessment of Congenital

Congenital anomalies (CA) are the leading cause of infant mortality in the USA (**Figure 1**) [1]. The five most common birth malformations recorded in the USA are club foot (1 in 593 births), Down syndrome (1 in 707 births), pulmonic stenosis/atresia (1 in 1052 births), cleft palate (1 in 1687 births), and limb defects (1 in1943 birth). Congenital heart disorders, neural tube defects, and Down syndrome are the three commonest causes of mortality due to CA in that order One in every 33 children born in the USA suffers from a birth anomaly, and 1 in 5 deaths among infants is due to morbidities related to them [2]. Globally about 7.9 million children are born with a major birth malformation every year, and CA is the fourth leading cause of neonatal death worldwide [3]. The annual cost of hospitalization due to congenital malformations is reported to be \$22.9 billion in the USA [4]. The cost of care of infants suffering from CA is relatively higher than any
