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be the result of genetic abnormalities, intrauterine environment, errors of morphogenesis, infection, or a chromosomal abnormality The older term congenital does not necessarily refer to a genetic disorder
Caution ! Much of the terminology used for congenital conditions predates genomic mapping Structural conditions are often separated from other congenital conditions It is now known that many metabolic conditions may have subtle structural expression, and structural conditions often have genetic links
1. Congenital physical anomaly abnormality of the structure of a body part 2. Birth defect a widely used term for a congenital malformation 3. Congenital malformation a deleterious physical anomaly present at birth 4. Malformation a physical anomaly associated with a disorder of tissue development 5. Dysplasia disorder of tissue development at the organ level
Terminology 6. Deformation condition arising from mechanical stress to normal tissue 7. Disruption breakdown of normal tissues 8. Genetic disorders - may be divided into single-gene defects, multiple-gene disorders, or chromosomal defects 9. Congenital metabolic disease - is also referred to as an inborn error of metabolism
Congenital anomalies 1. Structural anomalies 2. Functional anomalies
Causes of congenital anomalies
1. 2. 3. 4. 5. 6. 7. 8. 9. Inheritance Chromosomal abnormalities Single gene defects Polygenic inheritance Multifactorial inheritance Teratogens Intrauterine environment Errors of morphogenesis Infection
Down s syndrome Probably the most common of the severe developmental disorders which permit survival after birth Frequency is greater in older parents Presence of all or a part of an extra chromosome 21 (trisomy 21) Incidence is estimated at 1 in 733 births
Features of Down s syndrome
1. Lower than average cognitive ability (average IQ = 50 compared to normal children with 100) 2. Physical features: small chin (microgenia), unusually round face, macroglossia, epicanthic fold of eyelids (almond-shaped eyes), upslanting palpebral fissures, shorter limbs, simian crease, poor muscle tone, large space between big toe and second toe, low-set ears 3. Higher risk for congenital heart defects, gastroesophageal reflux, ear infections, etc
Neural tube malformations 1. 2. 3. 4. 5. Anencephalus Hydrocephalus Spina bifida Occipital meningocoele Others
Neural tube Embryological precursor to the central nervous system The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube Folic acid and Vitamin B12 are very important in reducing the occurrence of neural tube defects
A cephalic disorder that results from a neural tube defect that occurs when the cephalic end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp Children with this disorder are born without a forebrain, which is responsible for cognition The remaining brain tissue is often exposed - not covered by bone or skin
Hydrocephalus Hydrocephalus also known as water on the brain, is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles of the brain This may cause increased intracranial pressure, progressive enlargement of the head, convulsions, mental disability, and death
Hydrocephalus treatment is surgical. It involves the placement of a ventricular catheter (a tube made of silastic), into the cerebral ventricles to bypass the flow obstruction/malfunctioning arachnoidal granulations and drain the excess fluid into other body cavities, from where it can be resorbed. Most shunts drain the fluid into the peritoneal cavity (ventriculo-peritoneal shunt), but alternative sites include the right atrium (ventriculo-atrial shunt), pleural cavity (ventriculopleural shunt), and gallbladder. A shunt system can also be placed in the lumbar space of the spine and have the CSF redirected to the peritoneal cavity (lumbarperitoneal shunt)
Spina bifida refers to any birth defect involving incomplete closure of the spine Backbone and spinal canal do not close before birth (normally, during the first month of a pregnancy, the two sides of the spine converge and fuse to cover the spinal cord, spinal nerves and meninges) Myelomeningocoele is the most common type A newborn may have a sac protruding from the midback to the lower back
Low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect. The vitamin folic acid (or folate) is important for brain and spinal cord development Some theorize that a virus make play a role, since there is a higher rate of this condition in children born in the early winter months. Research also indicates possible environmental factors such as radiation
A meningocele is a type of spina bifida in which the spinal cord develops normally but the meninges protrude from a spinal opening. It is a saccular herniation of meninges and cerebrospinal fluid through a bony defect of the spine The exact cause of spina bifida is unknown. However, they do suspect that genetic, nutritional, and environmental factors may play a role in the cause of meningocele
Encephalocele (cranium bifidum)
A neural tube defect characterized by sac-like protrusions of the brain and the meninges through openings in the skull Encephaloceles occur at a rate of one per 5,000 live births worldwide Caused by failure of the neural tube to close completely during fetal development Teratogens, trypan blue (a stain used to color dead tissues or cells blue), and arsenic may damage the fetus and cause encephaloceles
Teratogens Substances found in the environment that can cause a birth defect It could be a prescribed medication, a street drug, alcohol use, chemical exposure, or an infection present in the mother, which could increase the chance for a baby to be born with a birth defect.
Teratogens and pregnancy
After fertilization it takes about six to nine days for implantation to occur Teratogens are thought to have the ability to begin affecting the fetus about 10 to14 days after fertilization Developmental toxicity is any morphological or functional alteration caused by chemical or physical insult that interferes with normal growth, homeostasis, development, differentiation, and/or behavior
Teratology is a specialized area of embryology Study of the etiology of abnormal development Teratogens therefore are xenobiotics and other factors that can cause malformations in the developing conceptus Examples: pharmaceutic compounds, substances of abuse, hormones found in contraceptive agents, cigarette components, and heavy metals, viral agents, altered metabolic states induced by stress, and nutrient deficiencies (e. g., folic acid deficiency)
Congenital heart disease: Tetralogy of Fallot 1. Ventricular septal defect 2. Pulmonary stenosis (obstruction of blood flow from the right ventricle to the lungs) Sometimes the pulmonary valve isn t just narrowed but is completely obstructed (pulmonary atresia) 3. The aorta lies directly over the ventricular septal defect 4. Right ventricular hypertrophy
TOF symptoms 1. Cyanosis 2. Shortness of breath and tachypnea, especially during feeding 3. Loss of consciousness 4. Clubbing of fingers and toes 5. Tiring easily during play 6. Irritability
TOF symptoms 6. Poor weight gain 7. Prolonged crying 8. Heart murmur
Cri du chat syndrome Chromosome 5p deletion syndrome French term for cry of the cat Characteristic cat-like cry of affected children
Hemophilia refers to a group of bleeding disorders in which it takes a long time for the blood to clot In most cases, the disorder is genetically transmitted It most often affects males The main symptom of hemophilia is bleeding In more severe cases, serious bleeding may occur without any cause. Internal bleeding may occur anywhere. Bleeding into joints is common
Carnegie stages Carnegie stages are a standardized system of 23 stages used to provide a unified developmental chronology of the vertebrate embryo It was based on work by Streeter (1942) and O'Rahilly and Müller (1987). The name "Carnegie stages" comes from the Carnegie Institution of Washington
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