What is the primary issue in the context of bone health mentioned?
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A problem in bone cells itself.
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What is the primary issue in the context of bone health mentioned?
A problem in bone cells itself.
What are the two main factors that contribute to congenital abnormalities?
Genetic and environmental factors.
What types of agents can cause congenital defects?
Drugs and chemicals.
What is a malformation?
An abnormality in the development of an organ.
What is the role of external factors in normal development?
They are crucial for normal development; disruptions can lead to anomalies.
What can happen if teratogens are present during critical periods?
They can lead to congenital abnormalities or developmental disruptions.
What do Mendelian rules refer to?
They guide the inheritance of single-gene defects.
What is an example of a non-genetic factor that can cause malformations?
Intrinsic factors, such as spina bifida.
What is oligohydramnios?
A condition characterized by a loss of amniotic fluid.
What is the relationship between good prognosis and appropriate treatment?
Good prognosis is associated with appropriate treatment underlining normal structure.
What can result from oligohydramnios?
Deformation in the fetus.
What does the term 'malformations' refer to?
Abnormalities in the structure or form of an organism, often present at birth.
What can several infectious agents interfere with?
Embryogenesis and fetal development.
What does the number 8480 represent?
It could refer to a specific model or version.
What is a disruption in developmental processes?
A break in the normal development of a body structure due to external or intrinsic factors.
What does the term 'YHDU' signify?
It may refer to a year or a specific time frame.
What type of malformations are most commonly isolated?
Non-syndromic malformations.
What are multiple congenital abnormalities?
Abnormalities that occur in association with other defects.
What can multiple congenital abnormalities involve?
Only one organ or system.
What is the susceptibility of both mother and fetus?
Both mother and fetus have varying susceptibility to teratogens.
What role do chemicals play in congenital abnormalities?
Exposure to harmful chemicals during pregnancy can result in congenital anomalies.
What is the role of environmental factors in congenital abnormalities?
They can interact with genetic predispositions.
What is the significance of the term 'Tongenetic' in relation to malformations?
It refers to self-causing factors in the development of malformations.
What is the origin of the term 'Dysmorphic'?
It comes from a Greek word meaning 'disordered' and 'form'.
What is a key characteristic of cyst formation in the kidneys?
Abnormal organization of cells leading to the development of multiple cysts.
What is the significance of bone tissue in health?
Bone tissue is crucial for structural support and overall health.
What condition is associated with bone tissue mentioned in the text?
Bone disease.
What does the term 'inapefida' refer to?
It refers to a type of tissue defect.
What role do external factors play in congenital abnormalities?
They can contribute to the development of these abnormalities.
How does oligohydramnios affect the baby?
It can lead to compression of the baby, causing abnormal positioning and shape changes.
What is a pattern of anomalies that occur together more often than expected?
A syndrome.
What are congenital abnormalities?
Malformations, disruptions, deformities, or dysplasias that occur during development.
What is an example of a disruption in organ development?
Amniotic band disruption.
What are examples of associations in congenital anomalies?
VACTERL and other associations.
What is a deformation in congenital abnormalities?
An abnormal shape or position of a body part due to mechanical forces.
What is the difference between malformation and dysplasia?
Dysplasia involves changes at the histological level with abnormal organization of tissue and cells, often due to a single gene defect, while malformation can be nongenetic and involves organization of cells within normal levels.
What causes abnormal development of an organ?
Problems in intrinsic factors such as cell growth and cell functions.
At what level does cyst formation occur in the kidneys?
Tissue level.
What is the significance of the 3RWWHU sequence?
It is a specific code or identifier.
What is facial asymmetry?
A condition where one side of the face does not match the other in appearance.
What are micropinase?
A developmental condition characterized by small or underdeveloped pinna (outer ear).
What are environmental causes of congenital abnormalities?
Factors such as drugs and chemicals that can affect fetal development.
What does the term 'cascade' refer to in the context of anomalies?
It means 'to follow'.
What is maternal illness in the context of congenital abnormalities?
A condition that can affect the developing fetus, potentially leading to abnormalities.
What is the impact of chromosomal abnormalities on development?
They can result in severe structural malformations.
What are some types of congenital abnormalities?
Malformations, disruptions, deformities, and dysplasias.
What does it mean when a malformation is described as 'non-progressive'?
It means the condition remains the same and does not worsen over time.
What is one cause of oligohydramnios?
Renal problems.
What can cause malformations?
Malformations can be caused by nongenetic factors, including environmental influences.
What are the two main classifications of congenital abnormalities?
Single abnormalities and multiple abnormalities.
Can you give an example of a congenital abnormality?
Cleft palates.
What is the focus of the document?
Critical periods in human development and the site of action of teratogens.
What is oligohydramnios?
A condition characterized by low amniotic fluid levels during pregnancy.
What is the significance of understanding these defects?
To improve clinical management and outcomes.
What can cause chromosomal abnormalities?
Excess or deficiency of chromosomal material.
What mechanical forces are involved in oligohydramnios?
The compression of the baby due to low amniotic fluid.
What is a causal relationship that has not been identified in congenital anomalies?
A causal relationship that has not been identified.
What does the term 'syndrome' refer to in the context of congenital abnormalities?
A consistent and recognizable pattern of abnormalities known or thought to be causally related.
What is the significance of following Mendelian rules?
It helps in understanding the inheritance patterns of congenital defects.
What is the significance of a position being abnormal but structurally normal?
It indicates that while the shape is altered, the underlying structure remains intact.
What is the significance of understanding environmental causes?
It helps in identifying risk factors and preventing congenital abnormalities.
What are examples of abnormal shapes in congenital malformations?
Small mandible, almond-shaped eyes, and small mouth.
What is a distipitator?
A device or mechanism used in various processes, often related to separation or purification.
What happens when the amniotic membrane catches with the baby's hand?
It disrupts or prevents normal development of hands and fingers.
What type of tissue is involved when the amniotic membrane catches with the baby's hand?
Fibrous tissue.
What are some examples of defects mentioned?
Cardiac defects, renal anomalies.
What is a common type of defect associated with vertebral malformations?
Skeletal dysplasia.
What are teratogens?
Agents that can cause malformation or abnormal development in an embryo or fetus.
What is a secondary morphological anomaly?
An anomaly known or presumed to cascade from a single anomaly.
What is the significance of the timing of administration during pregnancy?
The potential effects of any particular teratogen depend on the timing of administration during pregnancy.
How can drugs impact fetal development?
Certain drugs can lead to malformations or developmental disruptions in the fetus.
What is an example of a sequence in secondary morphological anomalies?
Piere Robin sequence.
What does 'dissubtion limo' refer to in the context of abnormal shape?
It indicates a change in the shape due to external influences.
What does the acronym VACTERL stand for?
Vertebral, Anal, Cardiac, Tracheoesophageal, Renal, and Limb anomalies.
What are some examples of simple congenital anomalies?
Cleft palates, congenital heart defects, polydactyly (extra finger), and osteogenesis imperfecta.
What is another cause of oligohydramnios?
Amniotic rupture.
Who first used the term 'Dysmorphology'?
David Smith in the 1960s to describe the study of human congenital malformations and patterns of birth defects.
What is the condition referred to in the text?
Congenital heart defects.
What does the term 'dysmorphism' refer to in the context of congenital abnormalities?
It refers to structural anomalies that can be identified in an individual.
What is the focus of the document?
Veterbral malformations.
What are the two types of tissue defects mentioned?
Not covered by skin and covered by skin.
What are the main causes of congenital abnormalities?
Genetic defects and environmental factors.
What are environmental causes of congenital defects?
Agents that can cause a birth defect by interfering with normal embryonic or fetal development.
What are single congenital abnormalities?
Abnormalities that occur in isolation.
What results from the interaction of different genes and environmental factors?
Congenital abnormalities.
What are environmental causes of congenital abnormalities?
Factors that can affect the developing embryo, either genetically or acquired.
What are structural chromosomal abnormalities?
Alterations in the structure of chromosomes that can lead to developmental anomalies.
What can result from the abnormal positioning of the baby due to oligohydramnios?
Changes in shape and potential congenital abnormalities.
What are a variety of maternal diseases that can impact fetal development?
Conditions such as diabetes, infections, and autoimmune diseases.
What does the term 'Congenital Malformations' refer to?
It describes all types of structural abnormalities that can occur in an embryo, fetus, or newborn.
What is dysplasia in congenital abnormalities?
An abnormal organization of cells within a tissue.
What characterizes abnormal shapes in congenital malformations?
They affect external organs and external appearance.
What is the result of both dysplasia and malformation?
Both lead to abnormal development at the tissue level.
When should the congenital heart defect be closed?
After birth, within 2-3 weeks.
What occurs early in pregnancy that can lead to congenital abnormalities?
Abnormal organization of cells.
When can congenital abnormalities develop?
During fetal life and after birth.
What are the two main factors that organ development depends on?
External factors and intrinsic factors.
What is a characteristic of square-shaped ears?
They are a specific ear shape that can be associated with certain developmental conditions.
What are the characteristics of single-gene defects?
They can result in isolated congenital abnormalities.
What is the result of altered shape or position of a body part due to external factors?
It gives an abnormal shape.
What is a malformation in the context of congenital abnormalities?
A structural defect resulting from an abnormal development process.
Are all malformations genetic?
No, not all malformations are genetic; some are due to non-genetic factors.
What is another example of a sequence in secondary morphological anomalies?
Potter sequence.
How can genetic factors contribute to congenital abnormalities?
Through inherited genetic mutations or chromosomal abnormalities.
What is the significance of identifying associations in congenital anomalies?
It helps in understanding patterns and potential underlying causes.
What is dysplasia?
Dysplasia refers to changes at the histological level where tissue and cells are abnormally organized, often linked to a single gene defect.
What are the causes of dysmorphism in congenital abnormalities?
They can be due to genetic factors, environmental influences, or a combination of both.
What are the developing brain, eyes, and ears susceptible to?
Damage by infection.
What is the consequence of maternal infections during pregnancy?
They can interfere with fetal development.
What are chromosomal abnormalities?
Alterations in the number or structure of chromosomes.
What do we call problems in extrinsic factors that lead to structural anomalies?
Disruption.
Why are critical periods important in human development?
They are specific times when the developing organism is particularly sensitive to environmental influences.
When do problems causing malformations typically occur?
Early during the development of the fetus.
What can cause distortion in the shape of a body part?
External factors, specifically mechanical forces.
What is a disruption in congenital abnormalities?
A defect resulting from the breakdown of an originally normal structure.
What is the significance of developmental abnormalities?
They can lead to various health issues and developmental delays.
What is the significance of single-gene mutations in congenital abnormalities?
They can lead to multiple congenital anomalies that have a single cause.
What is the relationship between environmental factors and congenital abnormalities?
Environmental factors can contribute to the development of congenital anomalies.