Pediatric Pathology Flashcards
This type of tumor is made up of cells from all three germ layers?
Teratoma
What characterizes Denys-Drash syndrome?
Gonadal dysgenesis
What are the symptoms of WAGR syndrome?
Wilms tumor, no irises, genitourinary abnormalities, intellectual disabilities
What symptoms are associated with Turner syndrome?
Streak ovaries, webbed neck, short stature, CV defects, hypothyroidism, protruding ears
What is the casuse of neonatal respiratory distress syndrome?
Immature surfactant production
What are common pediatric small round blue cell tumors?
Neuroblastoma, retinoblastoma, nephroblastoma (Wilms tumor)
What is Klinefelter syndrome?
An extra X chromosome in males, XXY
A baby is born with an open mouth and protruding tongue. They have a single crease across their hand and Brushfield spots. What is the likely diagnosis?
Trisomy 21 (Down Syndrome)
What gene is mutated in Cystic Fibrosis patients?
CFTR gene
Neuroblastomas most commonly appear where?
Near the adrenal glands
What is the cellular cause of cystic fibrosis?
Chloride channel defects
What is the most common teratoma of childhood?
Sacrococcygeal Teratoma
“Blueberry muffin baby” is associated with what type of cancer?
Neuroblastoma
What symptoms are associated with Sturge-Weber syndrome?
Port wine stains, seizures, developmental delays, glaucoma
A collection of fluid under the skin behind the fetal neck is called…?
Nuchal Translucency (NT)
What is the difference between malformations and deformations?
Malformations occur due to errors in development. Disruptions occur after development and are due to extrinsic disturbances
True/False. Most hemangiomas regress by the age of 10.
True
What is a defining feature of Sturge-Weber syndrome?
Port wine stains
Babies born before what week are pre-term?
37 weeks
True/False. Sacrococcygeal tumors present around age 2.
False. They are present at birth and require surgical intervention for removal.
What is the most common cause of deformation?
Uterine constraint
Organomegaly, macroglossia, and omphalocele are characteristics of…?
Beckwith-Wiedemann Syndrome
What is the cause of Cru-du-chat?
Deletion in the short arm of chromosome 5
What symptoms are associated with Trisomy 18 (Edward’s Syndrome)?
Microcephaly, micrognathia (small jaw), rocker-bottom feet
What are the causes of fetal hydrops?
Rh incompatibility, fluid accumulation
White pupils are associated with what cancer?
Retinoblastoma - mutation of one Rb allele
A baby is born and the physician notes a distinctive “cat’s cry.” Further examination reveals wide-set eyes and a wide, flat nasal bridge. The physician suspects what disorder?
Cru-du-chat
Isolated cleft lip and/or palate is an example of…?
Mutifactoral inheritence - disturbances in gene expression that run in families
What is Fragile X?
An unstable trinucleotide repeat in the X chromosome of a male. Patients present with long face, large mandible, large ears, and large testicles
A patient is born with a flattened face, clubbed feet, and hypoplastic lungs. What is the diagnosis?
Potter Sequence
During what timeframe is an embryo most susceptible to teratogens?
3rd - 9th weeks
Gynecomastia and infertility are associated with what genetic disorder?
Klinefelter syndrome (XXY)
Cleft lip, microphthalmia, and polydactyl are associated with what chromosomal abnormality?
Trisomy 13 (Patau Syndrome)
What is the most common chromosomal disorder?
Trisomy 21 (Down Syndrome)
After genetic testing, it is revealed a female-presenting child is missing an X chromosome. What is the diagnosis?
Turner syndrome (X)
What is Potter Sequence?
Decreased amniotic fluid often due to leakage of amniotic fluid of renal agenesis
What is a tumor of a blood vessel called?
Hemangioma
