What condition is characterized by upslanting palpebral fissures, epicanthal folds, and a large tongue?
Trisomy 21 (Down’s Syndrome)
Which two gastrointestinal diseases are associated with Trisomy 21 (Down’s Syndrome?)
Hirschsprung Disease (aganglionic colon), Duodenal Atresia
Which congenital heart defects are most commonly associated with Down Syndrome?
Atrioventricular septal defects, ventricular septal defects and tetralogy of fallot
In a 2 month old baby who suddenly presents with episodes of cyanosis, particularly when eating or crying, which congenital cardiac defect would you be concerned about? What would the cardiac sillhouette look like on chest x ray?
Tetralogy of Fallot (these are ‘tet spells’), and associated with a ‘boot-shaped heart’.
Which genetic syndrome would you expect in a female teenager presenting with primary amenorrhea, a short stature, webbed neck and low-set ears? Which congenital cardiac defects are associated with this condition? Which test would you order to confirm it?
Turner syndrome (45, X). Coarctation of aorta, bicuspid aortic valve. Karyotyping.
In a male presenting with small testes, wide hips/gynecoid adiposity, and tall stature, which genetic condition is most likely? Which test would you order to confirm?
Kinefelter syndrome (47 XXY). Karyotyping.
In a baby presenting with hypotonia, microcephaly, polydactyly and absence of skin on the scalp, which condition would you suspect and which test would you order to confirm it?
Trisomy 13 (Patau Syndrome). Karyotyping. “Patau is 13 and is floppy with too many fingers and a little head”
In a baby presenting with microcephaly, prominent occiput, micrognathia, low set ears and upturned nose, which genetic syndrome would you suspect and what test would you order to confirm?
Trisomy 18 (Edward’s Syndrome). “Edward is 18, he has a big forehead, upturned nose, a little jaw and a small head.”
Which deletion syndrome is associated with DiGeorge Syndrome?
22q11.2 deletion
Which electrolyte abnormality would you expect in a patient with DiGeorge Syndrome?
Hypocalcemia secondary to hypoparathyroidism
In a baby with hypocalcemia, cleft palate and tetralogy of fallot, which genetic syndrome would you suspect and which test would you order to confirm?
22q11.2 deletion/digeorge. Chromosomal Microarray.
In a patient with intellectual disability, large ears and large testes, which disorder would you suspect and what test would you order to confirm it?
Fragile X Syndrome, Chromosomal Microarray
In a patient with downslanting palpebral fissures, epicanthal folds, hypertelorism and low-set posteriorly rotated ears, which congenital syndrome would you suspect? Which congenital cardiac defects would you be concerned about?
Noonan Syndrome, pulmonic stenosis, hypertrophic cardiomyopathy.
Which microdeletion is associated with hypoparathyroidism and hypoplasia of thymus?
22q11.2 deletion syndrome
Which inborn error of metabolism is associated with cataracts and hepatomegaly?
Galactosemia
Which inborn error of metabolism would you suspect in a baby with high pitched cry, seizures, and sweet smelling urine and earwax?
Maple Syrup Urine Disease
Which disease would you suspect in a premature neonate with bilious emesis, bloody stools, and XR findings of pneumatosis intestinalis, dilated bowel loops and paucity of gas in bowel?
Necrotizing enterocolitis
hepatitis B vaccination and hepatitis B immunoglobulin should be administered to a neonate in the first 7 and 12 hours (respectively) of life in which cases?
When mother is HBV positive.
A mother with a history of HSV genital warts is desiring vaginal delivery. At what gestational age should you start suppressive medication, and which should you choose? If she has active genital lesions when labour begins, which actions should be taken?
36 weeks gestation, valacylovir, c-section delivery
If a pregnant person is exposed to varicella and is non-immune, which treatment/prophylaxis should be administered within 4 days of exposure?
Varicella Zoster immune globulin (NOT vaccination)
Which congenital exposure is associated with intracranial calcifications, chorioretinitis and hydrocephalus?
Toxoplasmosis
In a baby with congenital cataracts, pulmonary artery stenosis and hepatosplenomegaly, and multiple purpura, which condition should be suspected?
Congenital rubella
Which TORCH infection is associated with chorioretinitis, sensorineural hearing loss, periventricular calcifications and hepatosplenomegaly?
Cytomegalovirus
A child is diagnosed with asymtomatic pneumocystis jirovecii pneumonia. Which follow up test should you order?
HIV serology
