Diseases Of Infancy And Childhood

1. What does Atresia mean?

The complete absence of an organ and its associated primordium.

The absence of an organ owing to the failure of development of the primordium.

The absence of an opening - usually of a hollow, visceral organ.

The incomplete development or underdevelopment of an organ with decreased numbers of cells

An abnormal organisation of cells.

An abnormality in an organ or tissue as a result of a decrease in the size of individual cells.

Atresia refers to the absence of an opening, typically in a hollow, visceral organ. It does not necessarily indicate the complete absence of the organ itself, but rather the absence of an opening or passage within the organ. This can lead to various complications and blockages within the affected organ.

Explanation

Atresia refers to the absence of an opening, typically in a hollow, visceral organ. It does not necessarily indicate the complete absence of the organ itself, but rather the absence of an opening or passage within the organ. This can lead to various complications and blockages within the affected organ.

2. What does Agenesis mean?

The complete absence of an organ and its associated primordium.

The absence of an organ owing to the failure of development of the primordium.

The absence of an opening - usually of a hollow, visceral organ.

The incomplete development or underdevelopment of an organ with decreased numbers of cells

An abnormal organisation of cells.

An abnormality in an organ or tissue as a result of a decrease in the size of individual cells.

Agenesis refers to the complete absence of an organ and its associated primordium. This means that the organ is completely missing and never developed in the first place. It is not just a failure of development, but a complete absence.

Explanation

Agenesis refers to the complete absence of an organ and its associated primordium. This means that the organ is completely missing and never developed in the first place. It is not just a failure of development, but a complete absence.

3. What does Dysplasia in the context of malformations mean?

The complete absence of an organ and its associated primordium.

The absence of an organ owing to the failure of development of the primordium.

The absence of an opening - usually of a hollow, visceral organ.

The incomplete development or underdevelopment of an organ with decreased numbers of cells

An abnormal organisation of cells.

An abnormality in an organ or tissue as a result of a decrease in the size of individual cells.

Dysplasia in the context of malformations refers to an abnormal organization of cells. This means that there is a disruption in the normal arrangement and structure of cells within a particular organ or tissue. It is characterized by the presence of cells that are disordered, varying in size, shape, and appearance. Dysplasia can be a precursor to the development of cancer, as the abnormal cell organization can lead to uncontrolled growth and potential malignancy.

Explanation

Dysplasia in the context of malformations refers to an abnormal organization of cells. This means that there is a disruption in the normal arrangement and structure of cells within a particular organ or tissue. It is characterized by the presence of cells that are disordered, varying in size, shape, and appearance. Dysplasia can be a precursor to the development of cancer, as the abnormal cell organization can lead to uncontrolled growth and potential malignancy.

4. What does Hypoplasia mean?

The complete absence of an organ and its associated primordium.

The absence of an organ owing to the failure of development of the primordium.

The absence of an opening - usually of a hollow, visceral organ.

The incomplete development or underdevelopment of an organ with decreased numbers of cells

An abnormal organisation of cells.

An abnormality in an organ or tissue as a result of a decrease in the size of individual cells.

Hypoplasia refers to the incomplete development or underdevelopment of an organ with decreased numbers of cells. This means that the organ has not fully formed and has fewer cells than it should have.

Explanation

Hypoplasia refers to the incomplete development or underdevelopment of an organ with decreased numbers of cells. This means that the organ has not fully formed and has fewer cells than it should have.

5. What does Hypotrophy mean?

The complete absence of an organ and its associated primordium.

The absence of an organ owing to the failure of development of the primordium.

The absence of an opening - usually of a hollow, visceral organ.

The incomplete development or underdevelopment of an organ with decreased numbers of cells

An abnormal organisation of cells.

An abnormality in an organ or tissue as a result of a decrease in the size of individual cells.

Hypotrophy refers to an abnormality in an organ or tissue where there is a decrease in the size of individual cells. This can lead to a decrease in the overall size and function of the organ or tissue. It is different from the absence of an organ or its primordium, the absence of an opening in a hollow organ, or the incomplete development or underdevelopment of an organ. Hypotrophy specifically refers to the decrease in cell size, resulting in an abnormality in the affected organ or tissue.

Explanation

Hypotrophy refers to an abnormality in an organ or tissue where there is a decrease in the size of individual cells. This can lead to a decrease in the overall size and function of the organ or tissue. It is different from the absence of an organ or its primordium, the absence of an opening in a hollow organ, or the incomplete development or underdevelopment of an organ. Hypotrophy specifically refers to the decrease in cell size, resulting in an abnormality in the affected organ or tissue.

6. Flattened facies, positional anomalies of the hands and feet, dislocated hips and hypoplastic lungs are features that can be caused by which of the following?

Oligohydramnios sequence

Holoprosencephaly

Turner Syndrome

Cystic Fibrosis

Edward's Syndrome

Down'd Syndrome

Also called Potter sequence, and can result from rupture of the amnion with chronic leakage, renal agenesis of the fetus or maternal hypertension giving rise to uroplacental insufficiency.

Explanation

Also called Potter sequence, and can result from rupture of the amnion with chronic leakage, renal agenesis of the fetus or maternal hypertension giving rise to uroplacental insufficiency.

7. Which of the following is the most common developmental defect of the forebrain and midface in humans?

Oligohydramnios sequence

Holoprosencephaly

Patau Syndrome

Klinefelter Syndrome

Rubella Embryopathy

Cystic Fibrosis

Mutations in sonic hedgehog play a role in some cases.

Explanation

Mutations in sonic hedgehog play a role in some cases.

8. Cytomegalovirus infection in which trimester poses the greatest risk to the fetus?

First

Second

Third

Involvement of the central nervous system is a major feature. Prominent clinical changes are mental retardation, microencephaly, deafness and hepatosplenomegaly.

Explanation

Involvement of the central nervous system is a major feature. Prominent clinical changes are mental retardation, microencephaly, deafness and hepatosplenomegaly.

9. What does Aplasia mean?

The complete absence of an organ and its associated primordium.

The absence of an organ owing to the failure of development of the primordium.

The absence of an opening - usually of a hollow, visceral organ.

The incomplete development or underdevelopment of an organ with decreased numbers of cells

An abnormal organisation of cells.

An abnormality in an organ or tissue as a result of a decrease in the size of individual cells.

Aplasia refers to the absence of an organ due to the failure of the development of its primordium. This means that the organ does not form or develop properly during embryonic development, resulting in its complete absence in the individual.

Explanation

Aplasia refers to the absence of an organ due to the failure of the development of its primordium. This means that the organ does not form or develop properly during embryonic development, resulting in its complete absence in the individual.

10. The _ _ _ _ _ _ _ _ is a highly conserved,180 nucleotide motif with DNA binding properties on HOX genes. In vertebrates, these genes have been implicated in the patterning of limbs, vertebrae and craniofacial structures.

The highly conserved, 180 nucleotide motif with DNA binding properties on HOX genes is called the homeobox. Homeobox genes are found in vertebrates and play a role in the development and patterning of limbs, vertebrae, and craniofacial structures.

Explanation

The highly conserved, 180 nucleotide motif with DNA binding properties on HOX genes is called the homeobox. Homeobox genes are found in vertebrates and play a role in the development and patterning of limbs, vertebrae, and craniofacial structures.

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11. Which of the following is caused by a mutation in the PAX2 gene, which causes developmental defects of the eyes, kidneys ears and brain?

Oligohydramnios sequence

Holoprosencephaly

Patau Syndrome

Klinefelter Syndrome

Renal-Coloboma Syndrome

Cystic Fibrosis

PAX genes are highly conserved throughout evolution. Mutations can cause malformations and they may also function as oncogenes as their overexpression is associated with tumorigenesis.

Explanation

PAX genes are highly conserved throughout evolution. Mutations can cause malformations and they may also function as oncogenes as their overexpression is associated with tumorigenesis.