p.13
Clinical Implications and Management
What is the primary issue in the context of bone health mentioned?
A problem in bone cells itself.
p.24
Genetic vs. Environmental Factors
What are the two main factors that contribute to congenital abnormalities?
Genetic and environmental factors.
p.4
Malformations and Dysplasias
What is a malformation?
An abnormality in the development of an organ.
p.7
Impact of External Factors on Development
What is the role of external factors in normal development?
They are crucial for normal development; disruptions can lead to anomalies.
p.29
Clinical Implications and Management
What can happen if teratogens are present during critical periods?
They can lead to congenital abnormalities or developmental disruptions.
p.26
Genetic vs. Environmental Factors
What do Mendelian rules refer to?
They guide the inheritance of single-gene defects.
p.4
Causes of Congenital Abnormalities
What is an example of a non-genetic factor that can cause malformations?
Intrinsic factors, such as spina bifida.
p.22
Causes of Congenital Abnormalities
What is oligohydramnios?
A condition characterized by a loss of amniotic fluid.
p.9
Clinical Implications and Management
What is the relationship between good prognosis and appropriate treatment?
Good prognosis is associated with appropriate treatment underlining normal structure.
p.22
Causes of Congenital Abnormalities
What can result from oligohydramnios?
Deformation in the fetus.
p.16
Malformations and Dysplasias
What does the term 'malformations' refer to?
Abnormalities in the structure or form of an organism, often present at birth.
p.31
Impact of External Factors on Development
What can several infectious agents interfere with?
Embryogenesis and fetal development.
p.23
Classification of Congenital Abnormalities
What does the number 8480 represent?
It could refer to a specific model or version.
p.7
Developmental Disruptions
What is a disruption in developmental processes?
A break in the normal development of a body structure due to external or intrinsic factors.
p.23
Classification of Congenital Abnormalities
What does the term 'YHDU' signify?
It may refer to a year or a specific time frame.
p.27
Types of Congenital Abnormalities
What type of malformations are most commonly isolated?
Non-syndromic malformations.
p.3
Classification of Congenital Abnormalities
What are multiple congenital abnormalities?
Abnormalities that occur in association with other defects.
p.26
Types of Congenital Abnormalities
What can multiple congenital abnormalities involve?
Only one organ or system.
p.28
Susceptibility of Mother and Fetus
What is the susceptibility of both mother and fetus?
Both mother and fetus have varying susceptibility to teratogens.
p.30
Causes of Congenital Abnormalities
What role do chemicals play in congenital abnormalities?
Exposure to harmful chemicals during pregnancy can result in congenital anomalies.
p.26
Genetic vs. Environmental Factors
What is the role of environmental factors in congenital abnormalities?
They can interact with genetic predispositions.
p.4
Causes of Congenital Abnormalities
What is the significance of the term 'Tongenetic' in relation to malformations?
It refers to self-causing factors in the development of malformations.
p.2
Genetic vs. Environmental Factors
What is the origin of the term 'Dysmorphic'?
It comes from a Greek word meaning 'disordered' and 'form'.
p.12
Malformations and Dysplasias
What is a key characteristic of cyst formation in the kidneys?
Abnormal organization of cells leading to the development of multiple cysts.
p.13
Clinical Implications and Management
What is the significance of bone tissue in health?
Bone tissue is crucial for structural support and overall health.
p.5
Definition of Congenital Abnormalities
What does the term 'inapefida' refer to?
It refers to a type of tissue defect.
p.14
Impact of External Factors on Development
What role do external factors play in congenital abnormalities?
They can contribute to the development of these abnormalities.
p.10
Impact of External Factors on Development
How does oligohydramnios affect the baby?
It can lead to compression of the baby, causing abnormal positioning and shape changes.
p.15
Definition of Congenital Abnormalities
What are congenital abnormalities?
Malformations, disruptions, deformities, or dysplasias that occur during development.
p.7
Examples of Congenital Anomalies
What is an example of a disruption in organ development?
Amniotic band disruption.
p.18
Examples of Congenital Anomalies
What are examples of associations in congenital anomalies?
VACTERL and other associations.
p.3
Malformations and Dysplasias
What is a deformation in congenital abnormalities?
An abnormal shape or position of a body part due to mechanical forces.
p.11
Malformations and Dysplasias
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.
p.11
Causes of Congenital Abnormalities
What causes abnormal development of an organ?
Problems in intrinsic factors such as cell growth and cell functions.
p.23
Classification of Congenital Abnormalities
What is the significance of the 3RWWHU sequence?
It is a specific code or identifier.
p.20
Malformations and Dysplasias
What is facial asymmetry?
A condition where one side of the face does not match the other in appearance.
p.20
Malformations and Dysplasias
What are micropinase?
A developmental condition characterized by small or underdeveloped pinna (outer ear).
p.30
Causes of Congenital Abnormalities
What are environmental causes of congenital abnormalities?
Factors such as drugs and chemicals that can affect fetal development.
p.32
Causes of Congenital Abnormalities
What is maternal illness in the context of congenital abnormalities?
A condition that can affect the developing fetus, potentially leading to abnormalities.
p.25
Impact of External Factors on Development
What is the impact of chromosomal abnormalities on development?
They can result in severe structural malformations.
p.15
Types of Congenital Abnormalities
What are some types of congenital abnormalities?
Malformations, disruptions, deformities, and dysplasias.
p.4
Classification of Congenital Abnormalities
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.
p.11
Causes of Congenital Abnormalities
What can cause malformations?
Malformations can be caused by nongenetic factors, including environmental influences.
p.1
Classification of Congenital Abnormalities
What are the two main classifications of congenital abnormalities?
Single abnormalities and multiple abnormalities.
p.29
Developmental Disruptions
What is the focus of the document?
Critical periods in human development and the site of action of teratogens.
p.10
Causes of Congenital Abnormalities
What is oligohydramnios?
A condition characterized by low amniotic fluid levels during pregnancy.
p.19
Clinical Implications and Management
What is the significance of understanding these defects?
To improve clinical management and outcomes.
p.25
Causes of Congenital Abnormalities
What can cause chromosomal abnormalities?
Excess or deficiency of chromosomal material.
p.10
Developmental Disruptions
What mechanical forces are involved in oligohydramnios?
The compression of the baby due to low amniotic fluid.
p.18
Causes of Congenital Abnormalities
What is a causal relationship that has not been identified in congenital anomalies?
A causal relationship that has not been identified.
p.15
Classification of Congenital Abnormalities
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.
p.26
Genetic vs. Environmental Factors
What is the significance of following Mendelian rules?
It helps in understanding the inheritance patterns of congenital defects.
p.9
Malformations and Dysplasias
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.
p.32
Impact of External Factors on Development
What is the significance of understanding environmental causes?
It helps in identifying risk factors and preventing congenital abnormalities.
p.2
Malformations and Dysplasias
What are examples of abnormal shapes in congenital malformations?
Small mandible, almond-shaped eyes, and small mouth.
p.16
Malformations and Dysplasias
What is a distipitator?
A device or mechanism used in various processes, often related to separation or purification.
p.8
Developmental Disruptions
What happens when the amniotic membrane catches with the baby's hand?
It disrupts or prevents normal development of hands and fingers.
p.19
Examples of Congenital Anomalies
What are some examples of defects mentioned?
Cardiac defects, renal anomalies.
p.29
Causes of Congenital Abnormalities
What are teratogens?
Agents that can cause malformation or abnormal development in an embryo or fetus.
p.21
Types of Congenital Abnormalities
What is a secondary morphological anomaly?
An anomaly known or presumed to cascade from a single anomaly.
p.28
Impact of External Factors on Development
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.
p.30
Causes of Congenital Abnormalities
How can drugs impact fetal development?
Certain drugs can lead to malformations or developmental disruptions in the fetus.
p.9
Malformations and Dysplasias
What does 'dissubtion limo' refer to in the context of abnormal shape?
It indicates a change in the shape due to external influences.
p.18
Examples of Congenital Anomalies
What does the acronym VACTERL stand for?
Vertebral, Anal, Cardiac, Tracheoesophageal, Renal, and Limb anomalies.
p.2
Examples of Congenital Anomalies
What are some examples of simple congenital anomalies?
Cleft palates, congenital heart defects, polydactyly (extra finger), and osteogenesis imperfecta.
p.2
Classification of Congenital Abnormalities
Who first used the term 'Dysmorphology'?
David Smith in the 1960s to describe the study of human congenital malformations and patterns of birth defects.
p.6
Types of Congenital Abnormalities
What is the condition referred to in the text?
Congenital heart defects.
p.1
Definition of Congenital Abnormalities
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.
p.5
Types of Congenital Abnormalities
What are the two types of tissue defects mentioned?
Not covered by skin and covered by skin.
p.27
Causes of Congenital Abnormalities
What are the main causes of congenital abnormalities?
Genetic defects and environmental factors.
p.28
Causes of Congenital Abnormalities
What are environmental causes of congenital defects?
Agents that can cause a birth defect by interfering with normal embryonic or fetal development.
p.3
Classification of Congenital Abnormalities
What are single congenital abnormalities?
Abnormalities that occur in isolation.
p.27
Genetic vs. Environmental Factors
What results from the interaction of different genes and environmental factors?
Congenital abnormalities.
p.32
Causes of Congenital Abnormalities
What are environmental causes of congenital abnormalities?
Factors that can affect the developing embryo, either genetically or acquired.
p.25
Malformations and Dysplasias
What are structural chromosomal abnormalities?
Alterations in the structure of chromosomes that can lead to developmental anomalies.
p.10
Examples of Congenital Anomalies
What can result from the abnormal positioning of the baby due to oligohydramnios?
Changes in shape and potential congenital abnormalities.
p.32
Causes of Congenital Abnormalities
What are a variety of maternal diseases that can impact fetal development?
Conditions such as diabetes, infections, and autoimmune diseases.
p.2
Definition of Congenital Abnormalities
What does the term 'Congenital Malformations' refer to?
It describes all types of structural abnormalities that can occur in an embryo, fetus, or newborn.
p.3
Malformations and Dysplasias
What is dysplasia in congenital abnormalities?
An abnormal organization of cells within a tissue.
p.2
Malformations and Dysplasias
What characterizes abnormal shapes in congenital malformations?
They affect external organs and external appearance.
p.11
Malformations and Dysplasias
What is the result of both dysplasia and malformation?
Both lead to abnormal development at the tissue level.
p.6
Clinical Implications and Management
When should the congenital heart defect be closed?
After birth, within 2-3 weeks.
p.14
Causes of Congenital Abnormalities
What occurs early in pregnancy that can lead to congenital abnormalities?
Abnormal organization of cells.
p.14
Developmental Disruptions
When can congenital abnormalities develop?
During fetal life and after birth.
p.7
Causes of Congenital Abnormalities
What are the two main factors that organ development depends on?
External factors and intrinsic factors.
p.20
Malformations and Dysplasias
What is a characteristic of square-shaped ears?
They are a specific ear shape that can be associated with certain developmental conditions.
p.26
Types of Congenital Abnormalities
What are the characteristics of single-gene defects?
They can result in isolated congenital abnormalities.
p.9
Malformations and Dysplasias
What is the result of altered shape or position of a body part due to external factors?
It gives an abnormal shape.
p.3
Malformations and Dysplasias
What is a malformation in the context of congenital abnormalities?
A structural defect resulting from an abnormal development process.
p.4
Genetic vs. Environmental Factors
Are all malformations genetic?
No, not all malformations are genetic; some are due to non-genetic factors.
p.32
Genetic vs. Environmental Factors
How can genetic factors contribute to congenital abnormalities?
Through inherited genetic mutations or chromosomal abnormalities.
p.18
Classification of Congenital Abnormalities
What is the significance of identifying associations in congenital anomalies?
It helps in understanding patterns and potential underlying causes.
p.11
Malformations and Dysplasias
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.
p.1
Causes of Congenital Abnormalities
What are the causes of dysmorphism in congenital abnormalities?
They can be due to genetic factors, environmental influences, or a combination of both.
p.31
Impact of External Factors on Development
What is the consequence of maternal infections during pregnancy?
They can interfere with fetal development.
p.25
Definition of Congenital Abnormalities
What are chromosomal abnormalities?
Alterations in the number or structure of chromosomes.
p.29
Impact of External Factors on Development
Why are critical periods important in human development?
They are specific times when the developing organism is particularly sensitive to environmental influences.
p.4
Developmental Disruptions
When do problems causing malformations typically occur?
Early during the development of the fetus.
p.9
Causes of Congenital Abnormalities
What can cause distortion in the shape of a body part?
External factors, specifically mechanical forces.
p.3
Developmental Disruptions
What is a disruption in congenital abnormalities?
A defect resulting from the breakdown of an originally normal structure.
p.25
Clinical Implications and Management
What is the significance of developmental abnormalities?
They can lead to various health issues and developmental delays.
p.15
Causes of Congenital Abnormalities
What is the significance of single-gene mutations in congenital abnormalities?
They can lead to multiple congenital anomalies that have a single cause.
p.15
Genetic vs. Environmental Factors
What is the relationship between environmental factors and congenital abnormalities?
Environmental factors can contribute to the development of congenital anomalies.
