Cornelia de Lange Syndrome Flashcards
A newborn is noted to have short stature, limb malformations, and widely spaced teeth. The infant has normal prenatal history. Which of the following is the most likely diagnosis?
A) Silver-Russell syndrome
B) Cornelia de Lange syndrome
C) Pierre Robin sequence
D) Treacher Collins syndrome
E) Turner syndrome
Answer: Cornelia de Lange syndrome
Explanation: Limb anomalies, widely spaced teeth, and short stature are characteristic of Cornelia de Lange syndrome. Prenatal development is typically normal.
Incorrect Answers:
A) Silver-Russell syndrome does not include limb anomalies or widely spaced teeth.
C) Pierre Robin sequence involves retrognathia and cleft palate, not limb anomalies.
D) Treacher Collins syndrome involves mandibular hypoplasia and facial abnormalities but no limb findings.
E) Turner syndrome includes short stature but lacks limb anomalies or widely spaced teeth.
A 3-year-old boy with a history of poor growth and intellectual disability presents with short, malformed limbs and hypoplastic digits. His mother reports he has always had difficulty feeding and has never spoken words. Which of the following is the most likely diagnosis?
A) Cornelia de Lange syndrome
B) Silver-Russell syndrome
C) Achondroplasia
D) Noonan syndrome
E) Pierre Robin sequence
Answer: Cornelia de Lange syndrome
Explanation: Limb anomalies, such as hypoplastic digits, combined with intellectual disability and poor growth, strongly suggest Cornelia de Lange syndrome.
Incorrect Answers:
B) Silver-Russell syndrome involves limb asymmetry but no severe limb malformations.
C) Achondroplasia involves rhizomelic limb shortening but not intellectual disability.
D) Noonan syndrome involves short stature and cardiac defects but no limb anomalies.
E) Pierre Robin sequence does not involve limb malformations.
What is Cornelia de Lange Syndrome (CdLS)?
A genetic disorder characterized by developmental delays, distinctive facial features, and limb abnormalities.
True or False: Cornelia de Lange Syndrome has a known prevalence rate of about 1 in 10,000 to 30,000 live births.
True
True or False: Cornelia de Lange Syndrome can be diagnosed with a genetic test.
True
True or False: Cornelia de Lange Syndrome is caused by mutations in the NIPBL gene.
True
Fill in the blank: The most frequently mutated gene in Cornelia de Lange Syndrome is _____ .
NIPBL
What is the inheritance pattern of Cornelia de Lange Syndrome?
Autosomal dominant.
Which other genes, besides NIPBL, are associated with Cornelia de Lange Syndrome?
SMC1A and SMC3.
A 3-year-old girl is brought to the clinic for developmental delay and poor growth. She has been below the first percentile for height and weight since infancy. On examination, she has a unibrow (synophrys), thin downturned lips, short limbs with missing digits, and microcephaly. Which of the following is the most likely underlying diagnosis?
A) Cornelia de Lange syndrome
B) Silver-Russell syndrome
C) Noonan syndrome
D) Turner syndrome
E) Pierre Robin sequence
Answer: A) Cornelia de Lange syndrome
Explanation: Cornelia de Lange syndrome is characterized by short stature, failure to thrive, synophrys (unibrow), microcephaly, micronathia, and limb anomalies (e.g., missing digits). Behavioral abnormalities such as autism and intellectual disability are common. Prenatally, these infants are often normal but develop postnatal growth restriction and dysmorphic features.
Incorrect Answers:
B) Silver-Russell syndrome includes short stature and triangular face but lacks synophrys or limb anomalies.
C) Noonan syndrome involves short stature and facial dysmorphism but is associated with congenital heart defects like pulmonary stenosis.
D) Turner syndrome involves short stature and webbed neck, primarily affecting females with 45,X karyotype.
E) Pierre Robin sequence includes retrognathia and airway obstruction, not synophrys or missing digits.
Which of the following conditions is most strongly associated with severe intellectual disability?
A) Cornelia de Lange syndrome
B) Pierre Robin sequence
C) Silver-Russell syndrome
D) Turner syndrome
E) Noonan syndrome
Answer: Cornelia de Lange syndrome
Explanation: Cornelia de Lange syndrome is associated with severe intellectual disability, behavioral abnormalities, and features of autism. Other syndromes, such as Silver-Russell syndrome, may involve normal or mildly impaired intelligence.
Incorrect Answers:
B) Pierre Robin sequence does not inherently cause intellectual disability unless associated with a syndrome like Stickler syndrome.
C) Silver-Russell syndrome typically involves normal cognitive development.
D) Turner syndrome may involve learning disabilities but not severe intellectual disability.
E) Noonan syndrome is not typically associated with severe intellectual disability.
Short Answer: Name one psychological issue that may affect individuals with Cornelia de Lange Syndrome.
Anxiety or behavioral problems.
What type of developmental issues are commonly seen in Cornelia de Lange Syndrome?
Intellectual disability and developmental delays.
Fill in the blank: Cornelia de Lange Syndrome is often diagnosed during _____ or early childhood.
Infancy
Multiple Choice: Which of the following is NOT a common feature of Cornelia de Lange Syndrome?
A) Short stature
B) Limb malformations
C) Hyperactivity
D) Distinctive facial features
C) Hyperactivity
