Silver-Russell syndrome Flashcards
A 6-year-old boy presents with persistent short stature despite normal growth hormone levels. On examination, he has a triangular face, a downturned mouth, and limb asymmetry. His parents report that he had excess sweating as an infant. Which of the following is the most likely diagnosis?
A) Noonan syndrome
B) Cornelia de Lange syndrome
C) Silver-Russell syndrome
D) Prader-Willi syndrome
E) Pierre Robin sequence
Answer: Silver-Russell syndrome
Explanation: Silver-Russell syndrome presents with short stature, triangular face, limb asymmetry, and a downturned mouth. Excessive sweating in infancy is a unique feature. Growth hormone therapy is often part of the management.
Incorrect Answers:
A) Noonan syndrome has facial dysmorphism and short stature but no limb asymmetry or triangular face.
B) Cornelia de Lange syndrome includes synophrys, intellectual disability, and limb malformations but lacks the triangular face.
D) Prader-Willi syndrome includes obesity and hypotonia but lacks the facial and limb findings of Silver-Russell syndrome.
E) Pierre Robin sequence involves retrognathia and airway obstruction, not triangular face or asymmetry.
What is Silver-Russell syndrome?
A genetic disorder characterized by growth restriction and various physical anomalies.
Which chromosome is commonly implicated in Silver-Russell syndrome?
Chromosome 11
What type of inheritance pattern is associated with Silver-Russell syndrome?
Imprinting disorder
Which genetic abnormalities are most often associated with Silver-Russell syndrome?
Maternal uniparental disomy and hypomethylation of the H19 gene.
Fill in the blank: The incidence of Silver-Russell syndrome is approximately __________ per 100,000 live births.
1-3
What is the primary growth pattern observed in Silver-Russell syndrome?
Intrauterine growth restriction (IUGR)
What is the typical birth weight for infants with Silver-Russell syndrome?
Below the 10th percentile
Which of the following is a common feature in the early development of children with Silver-Russell syndrome? A) Delayed speech B) Advanced motor skills
A) Delayed speech
Fill in the blank: Affected individuals may show a characteristic __________ appearance.
Facial
What are common physical features of Silver-Russell syndrome?
Triangular face, prominent forehead, and asymmetry.
True or False: Silver-Russell syndrome is classified as a type of dwarfism.
True
A 5-year-old girl is evaluated for global developmental delay. On examination, she has a triangular face, micrognathia, downturned corners of the mouth, and asymmetry of the upper and lower limbs. What feature would further support the diagnosis of Silver-Russell syndrome?
A) Synophrys (unibrow)
B) Excessive sweating as an infant
C) Severe intellectual disability
D) Limb malformations (e.g., missing digits)
E) Corneal clouding
Answer: Excessive sweating as an infant
Explanation: Silver-Russell syndrome is characterized by short stature, limb asymmetry, triangular face, and excessive sweating in infancy. Intellectual abilities are often normal or mildly impaired.
Incorrect Answers:
A) Synophrys is a feature of Cornelia de Lange syndrome.
C) Severe intellectual disability is more common in Cornelia de Lange syndrome.
D) Limb malformations (e.g., missing digits) suggest Cornelia de Lange syndrome, not Silver-Russell syndrome.
E) Corneal clouding is associated with Hurler syndrome, not Silver-Russell syndrome.
True or False: Patients with Silver-Russell syndrome commonly have normal intelligence.
True
Which of the following best differentiates Silver-Russell syndrome from Cornelia de Lange syndrome?
A) Presence of intellectual disability
B) Presence of a triangular face
C) Limb asymmetry
D) Normal prenatal development
E) Excessive sweating in infancy
Answer: Excessive sweating in infancy
Explanation: Excessive sweating in infancy is unique to Silver-Russell syndrome. While both syndromes share short stature and normal prenatal development, intellectual disability and limb anomalies are more characteristic of Cornelia de Lange syndrome.
