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Questions and Answers
What does the term 'dysmorphology' refer to?
What is an Atrial Septal Defect (ASD)?
What is Synpolydactyly (SPD)?
What is teratogenesis?
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What is a 'malformation sequence'?
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Which term refers to a rare limb deformity showing a distinctive combination of syndactyly and polydactyly?
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What is the process by which malformations are produced in a fetus?
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Which term refers to individuals whose features are not usually found in other individuals with the same age or ethnicity?
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What does the term 'malformation sequence' refer to?
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What is the meaning of the term 'dysmorphology'?
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Study Notes
Dysmorphology
- Refers to the study of birth defects or congenital anomalies
- Focuses on the diagnosis and classification of these conditions
- Involves understanding the causes and mechanisms of developmental abnormalities
Atrial Septal Defect (ASD)
- A congenital heart defect where there is an abnormal opening between the right and left atria of the heart
- This opening allows blood to flow from the left atrium to the right atrium, bypassing the lungs
- Can lead to a variety of symptoms depending on the severity of the defect
Synpolydactyly (SPD)
- A rare limb deformity marked by the presence of both syndactyly and polydactyly
- Syndactyly refers to the fusion of toes or fingers
- Polydactyly refers to the presence of extra fingers or toes
Teratogenesis
- The process by which malformations are produced in a fetus
- Can be caused by various factors such as genetic mutations, exposure to teratogens (e.g., drugs, alcohol, viruses), or environmental factors
- Teratogens can disrupt normal embryonic development and lead to structural abnormalities
Malformation Sequence
- A series of anatomical abnormalities that are linked together by a single initiating event
- The initial defect triggers a cascade of secondary developmental disturbances
- Example: A malformation sequence involving a cleft lip can lead to abnormalities in the palate, teeth, and even facial bones
Individuals with Dysmorphic Features
- Individuals whose facial features or physical characteristics are not typically found in others of the same age or ethnicity
- May be a sign of an underlying genetic or developmental condition
- It's important to note that dysmorphic features can be present in a wide range of conditions, some with more significant implications than others
Dysmorphic Features
- The occurrence of unusual facial features or physical characteristics
- Can involve the head, face, limbs, or other body parts
- They may be subtle or quite pronounced
Malformation Sequence
- An anatomical sequence of abnormalities that are linked by a single initiating event
- The initial defect triggers a chain of subsequent developmental issues
- Example: A malformation sequence involving a cleft lip might also include abnormalities in the palate, teeth, and facial structure
Teratogenesis
- The process by which malformations are produced in fetuses
- Causes disruptions during the embryonic development, resulting in birth defects
- Often caused by environmental factors, genetic mutations, or exposure to substances with adverse effects on fetal growth
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Description
Test your knowledge on dysmorphology and teratogenesis with this quiz. Learn about atrial septal defect dysmorphology and synpolydactyly congenital malformations.