... Congenital heart defects Thoracic surgery Hypoxia Breastfeeding Enteral nutrition Key Messages Infants and children with congenital heart disease (CHD) are at risk of malnutrition, resulting from an imbalance between increased energy requirements and reduced energy and nutrient...

...Key Messages Management of neonates with congenital heart disease is complex and requires a multidisciplinary approach involving pediatric cardiologists, cardiac surgeons, anesthesiologists, neonatologists, dieticians, specialist nurses, occupational therapists, and other specialists...

.... Congenital cataract is a rare disease and can be related to a lot of known gene defects. The compendium of human genes, called the Online Mendelian Inheritance in Man (OMIM), is a very handy source of information on inherited congenital cataracts. OMIM is a comprehensive, authoritative compendium of human...

... Abstract Congenital Adrenal Hyperplasias (CAH) are genetic diseases transmitted in an autosomal recessive way and these diseases affect many aspects of human health. The majority of CAH cases is due to a deficiency in 21-hydroxylase as a result of the existence of mutations in both alleles...

... Abstract Deficiency of the 21-hydroxylase enzyme is the most common form of congenital adrenal hyperplasia (CAH), accounting for more than 95% of the cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents...

... Abstract Passage from childhood to adult life involves biological changes culminating in full reproductive capacity as well as psychosocial development. For patients with congenital hypogonadotropic hypogonadism (CHH), this can be an emotionally challenging time as their pubertal failure...

... period of the auditory system. In conclusion, hearing rehabilitation of congenital atresia should be performed as early as possible. This includes not only the bilateral but also the unilateral affected patients. Introduction Malformations of the external ear, external auditory canal and middle...

..., representative genetic disorders with dyshidrosis, including ectodermal dysplasia (ED), incontinentia pigmenti (IP), Fabry disease, and congenital insensitivity to pain with anhidrosis (CIPA) are discussed. Ectodermal Dysplasia One of the representative diseases is ED, which is a hereditary heterogeneous...

... Abstract Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular...

... to effectively manage congenital microtia. Congenital Microtia Congenital microtia occurs in approximately 1 in 10,000-20,000 live births as a result of the aberrant development of the first and second branchial arches [ 1 ]. However, the exact microtia pathogenesis remains unknown; it is considered...

... Abstract Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all...

..., leading to congenital hypogonadotropic hypogonadism (CHH) and an absence of puberty. For many years, attention has mainly been focused on the genetics of isolated CHH. More recently, the emergence of new genomics techniques has led to the description of genetic defects in very rare syndromes in which CHH...

... Abstract A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially...

... Abstract Three hundred and fifty years of the history of congenital cardiovascular anomalies are reviewed here. The anatomy of individual anomalies was described in the early years of medical history. By the late 19th century sufficient numbers of patients and specimens had been studied...

... Abstract Congenital heart defects are common, costly, and critical - and they are more so than they ought to be because of the limitations of treatment and the inability to prevent what can be prevented. Major heart defects occur in nearly 1 in 100 births, or 1.2 million babies worldwide every...

... Abstract Congenital heart defects (CHD) remain one of the most common categories of birth defects worldwide. In many developing countries, high early childhood mortality and limited diagnostic facilities often obscure the true scope of the problem. In this review, we provide an overview...

... Abstract The development of congenital heart defects (CHDs) is likely a combination of genetic and nongenetic influences. Unfortunately, CHD prevention has been hindered by a lack of conclusive information on modifiable risk factors. This chapter discusses general concepts about risk assessment...

... Abstract Improvements in the surgical care of pediatric patients with congenital heart disease (CHD) have resulted in a growing population of adult CHD (aCHD) patients. These adults are developing a host of new issues and complications that many adult cardiologists have not been trained...