Dive into Down Syndrome
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Questions and Answers

Which of the following is a typical clinical feature of a floppy baby syndrome?

  • Hypertonia
  • Motor developmental delay (correct)
  • Normal posture
  • Normal resistance to passive movement

What is the main cause of a floppy infant syndrome?

  • Dysmorphic facies
  • Lower motor neuron lesion (correct)
  • Upper motor neuron lesion
  • Myopathy

Why is it important to establish a diagnosis in a floppy infant?

  • To determine the prognosis
  • To develop management and treatment strategies
  • To provide genetic counseling
  • All of the above (correct)

Which one of the following is a term used in dysmorphology to describe the abnormal development or growth of a group of tissues, organs, or cells?

<p>Dysplasia (D)</p> Signup and view all the answers

Which one of the following is a risk factor for Down syndrome?

<p>All of the above (D)</p> Signup and view all the answers

Which one of the following is a component of adequate history taking in a clinical approach to dysmorphology?

<p>All of the above (D)</p> Signup and view all the answers

Which one of the following is a physical examination component in dysmorphology?

<p>All of the above (D)</p> Signup and view all the answers

Which one of the following is a characteristic feature of DiGeorge syndrome?

<p>Cleft palate (A)</p> Signup and view all the answers

What is the most common genetic disorder with an incidence of 1 in 650 live births?

<p>Down syndrome (B)</p> Signup and view all the answers

Which type of Down syndrome is associated with an extra part or a whole extra chromosome 21 translocated to a different chromosome?

<p>Translocation (B)</p> Signup and view all the answers

What is the incidence of Patau syndrome?

<p>1 in 15,000 (A)</p> Signup and view all the answers

Which of the following is NOT a cause of a floppy infant?

<p>Congenital Myotonic Dystrophy (D)</p> Signup and view all the answers

Which type of motor neuron lesion is characterized by profound hypotonia, proximal weakness, and tongue fasciculations?

<p>Lower Motor Neuron Lesions (LMN) (D)</p> Signup and view all the answers

Which gene is commonly associated with Spinal Muscular Atrophy (SMA)?

<p>SMN1 gene (B)</p> Signup and view all the answers

Which of the following conditions is not typically associated with a floppy infant?

<p>Glycogen storage disease - Pompe's disease (C)</p> Signup and view all the answers

Which one of the following is a characteristic feature of a floppy baby syndrome?

<p>Reduced resistance to passive movement of joints (C)</p> Signup and view all the answers

Which one of the following is a risk factor for a floppy baby syndrome?

<p>Grip or Percussion myotonia (B)</p> Signup and view all the answers

Which one of the following is a typical clinical feature of a floppy baby syndrome?

<p>All of the above (D)</p> Signup and view all the answers

Which one of the following is a method used for diagnosis in dysmorphology?

<p>Cytogenetics (B)</p> Signup and view all the answers

Which one of the following is a risk factor for Down syndrome?

<p>Parental ages (C)</p> Signup and view all the answers

Which one of the following is a term used in dysmorphology to describe a cluster of malformations with a recognizable pattern?

<p>Sequence (C)</p> Signup and view all the answers

Which one of the following is a component of adequate history taking in a clinical approach to dysmorphology?

<p>Exposures (B)</p> Signup and view all the answers

Which of the following conditions is NOT a cause of a floppy infant?

<p>Cerebral palsy (B)</p> Signup and view all the answers

Which gene is commonly associated with Spinal Muscular Atrophy (SMA)?

<p>SMN1 gene (B)</p> Signup and view all the answers

What is the most common genetic disorder with an incidence of 1 in 650 live births?

<p>Down syndrome (D)</p> Signup and view all the answers

Which type of Down syndrome is associated with an extra part or a whole extra chromosome 21 translocated to a different chromosome?

<p>Translocation Down syndrome (C)</p> Signup and view all the answers

Which of the following is a characteristic feature of DiGeorge syndrome?

<p>Pulmonary stenosis (A)</p> Signup and view all the answers

What is the most common genetic disorder with an incidence of 1 in 650 live births?

<p>Down syndrome (D)</p> Signup and view all the answers

Which type of Down syndrome is associated with an extra part or a whole extra chromosome 21 translocated to a different chromosome?

<p>Translocation (B)</p> Signup and view all the answers

What is the incidence of Patau syndrome?

<p>1 in 15,000 (C)</p> Signup and view all the answers

Which of the following is NOT a characteristic feature of a floppy baby syndrome?

<p>Hypotonia (B)</p> Signup and view all the answers

Which one of the following is a cause of a floppy infant syndrome?

<p>Cerebral cortex (C)</p> Signup and view all the answers

What is the main purpose of establishing a diagnosis in a floppy infant?

<p>To guide management and treatment strategies (A)</p> Signup and view all the answers

Which one of the following is a characteristic feature of Turner syndrome?

<p>Webbed neck (A)</p> Signup and view all the answers

Which one of the following is a typical clinical feature of Patau syndrome?

<p>Polydactyly (C)</p> Signup and view all the answers

Which one of the following is a characteristic feature of Noonan syndrome?

<p>Downward slant eyes (A)</p> Signup and view all the answers

Which one of the following is a risk factor for DiGeorge syndrome?

<p>Ear defects (C)</p> Signup and view all the answers

Which of the following is a risk factor for Down syndrome?

<p>Twinning (B)</p> Signup and view all the answers

Which one of the following is a term used in dysmorphology to describe a cluster of malformations with a recognizable pattern?

<p>Syndrome (D)</p> Signup and view all the answers

Which one of the following is a physical examination component in dysmorphology?

<p>Anthropometric measurements (C)</p> Signup and view all the answers

What is the mainstay of diagnosis in dysmorphology?

<p>Cytogenetics (D)</p> Signup and view all the answers

Which one of the following is a cause of a 'strong' floppy infant?

<p>Spinal Muscular Atrophy (SMA) (C)</p> Signup and view all the answers

Which one of the following is a cause of a 'weak' floppy infant?

<p>Hypoxic-ischaemic encephalopathy (D)</p> Signup and view all the answers

Which one of the following is a characteristic feature of Spinal Muscular Atrophy (SMA)?

<p>Profound hypotonia (B)</p> Signup and view all the answers

Which one of the following is a typical clinical feature of a 'strong' floppy infant?

<p>Poor swallowing and feeding difficulties (C)</p> Signup and view all the answers

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