Dive into Down Syndrome

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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?

Dysplasia Signup and view all the answers

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

All of the above Signup and view all the answers

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

All of the above Signup and view all the answers

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

All of the above Signup and view all the answers

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

Cleft palate Signup and view all the answers

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

Down syndrome 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?

Translocation Signup and view all the answers

What is the incidence of Patau syndrome?

1 in 15,000 Signup and view all the answers

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

Congenital Myotonic Dystrophy Signup and view all the answers

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

Lower Motor Neuron Lesions (LMN) Signup and view all the answers

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

SMN1 gene Signup and view all the answers

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

Glycogen storage disease - Pompe's disease Signup and view all the answers

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

Reduced resistance to passive movement of joints Signup and view all the answers

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

Grip or Percussion myotonia Signup and view all the answers

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

All of the above Signup and view all the answers

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

Cytogenetics Signup and view all the answers

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

Parental ages 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?

Sequence Signup and view all the answers

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

Exposures Signup and view all the answers

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

Cerebral palsy Signup and view all the answers

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

SMN1 gene Signup and view all the answers

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

Down syndrome 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?

Translocation Down syndrome Signup and view all the answers

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

Pulmonary stenosis Signup and view all the answers

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

Down syndrome 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?

Translocation Signup and view all the answers

What is the incidence of Patau syndrome?

1 in 15,000 Signup and view all the answers

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

Hypotonia Signup and view all the answers

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

Cerebral cortex Signup and view all the answers

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

To guide management and treatment strategies Signup and view all the answers

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

Webbed neck Signup and view all the answers

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

Polydactyly Signup and view all the answers

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

Downward slant eyes Signup and view all the answers

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

Ear defects Signup and view all the answers

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

Twinning 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?

Syndrome Signup and view all the answers

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

Anthropometric measurements Signup and view all the answers

What is the mainstay of diagnosis in dysmorphology?

Cytogenetics Signup and view all the answers

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

Spinal Muscular Atrophy (SMA) Signup and view all the answers

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

Hypoxic-ischaemic encephalopathy Signup and view all the answers

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

Profound hypotonia Signup and view all the answers

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

Poor swallowing and feeding difficulties Signup and view all the answers

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?

What is the main cause of a floppy infant syndrome?

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

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?

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

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

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

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

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

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

What is the incidence of Patau syndrome?

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

What is the incidence of Patau syndrome?

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

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

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

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

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

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

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

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

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

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

What is the mainstay of diagnosis in dysmorphology?

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

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

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

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

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