Dysmorphology
Bad Chemistry
Ouch
Bad Bugs
How old am I?
100

This syndrome is likely to have the following characteristics: clenched fist, hypoplastic nails, prominenet occiput, rocker bottom feet, and horseshoe kidneys.

What is Edward Syndrome (Trisomy 18)

100

Infants with this inborn error of metabolism appear normal at birth until their first exposure to lactose, then they present with poor feeding and failure to thrive.

What is galactosemia.

100
This is the recommended amount time frame in which the Hepatitis B vaccine should be administered to a newborn who's mother is Hep B antigen +.
What is within 12 hours.
100
This infection is associated with a rash that starts on the wrists, ankles, palms and soles and spreads centrally. It may also present with fevers, myalgias, confusion, or hyponatremia.
What is Rocky Mountain Spotted Fever.
100

I can lift my chest up during tummy time but my head still bobs when people help me sit 

What is 2 months.

200

This syndrome is associated with the following features: hypospadias, omphalocele, macroglossia, macrosomia, hypoglycemia, hemihypertrophy

What is Beckwith Wiedemann Syndrome

200

This disorder is usually asymptomatic for a few months and when not treated/diagnosed, will ultimately present with severe vomiting, irritability, eczema, or a musty/mousy odor of the urine. If left untreated, it ultimately leads to profound intellectual disability.

What is phenylketonuria (PKU).

200
As per the AAP recommended vaccination schedule, this is the only live vaccine administered prior to 1 year of age.
What is Rota virus vaccine.
200
This is the most common cause of bacterial gastroenteritis in the developed world.
What is Campylobacter Jejuni.
200

I can run well and I have 15 words

What is 18 months

300

This syndrome is associated with the following features: developmental delay, profound speech impairment, ataxia, movement disorders, behavioral anomolies (frequent laughter, easy excitability, short attention span).

What is Angelman Syndrome

300

This disorder may present with hypoglycemia, distended abdomen, poor growth, large liver, elevated triglycerides/cholesterol and a doll-like face.

What is Von Gierke Disease (glycogen storage disease type I)

300
This is the earliest recommended age at which HPV vaccine can be administered.
What is 9 years.
300
In a disease where during the tertiary stage of the infection, a patient may develop gumma formation, cardiovascular involvement or CNS involvement, this is the treatment of choice.
What is Penicillin G.
300

I can walk down the stairs holding the railing with both feet on one step

What is 24 months 

400

This syndrome is associated with the following features: Conductive hearing loss, a small jaw, ear abnormalities, lower eyelid abnormalities, normal intelligence and an autosomal dominant pattern of inheritance.

What is Treacher Collins.

400

This syndrome presents before age 2, and usually with symptoms of progressive facial coarsening, hirsutism, hepatosplenomegaly, thick skulls, corneal clouding, severe intellectual disability.

What is Hurler Syndrome (MPS Type I)

400
This is the minimum amount of time that must pass after live vaccine administration in order for a PPD test to be placed and be reliable.
What is 4 - 6 weeks.
400

This is the treatment of choice for a patient who presents with vague influenza-like symptoms including fever, night sweats, headaches, chest pains or muscle aches with recent travel to California, Arizona or Texas.

What is fluconazole 

400

I can walk up the stairs alternating my feet. How many words should I have any how many of them should you understand?

What is >200 words, 75% intelligible 

500

Test used to diagnose the underlying disorder for a boy with intellectual disability, macrocephaly, mandibular prognathism, and large testes. 

What is FMR1 molecular analysis 

500
This is the pattern of inheritance for Hunter Syndrome (MPS Type II).
What is X-linked recessive.
500
Besides severe allergic reaction, this is the only absolute contraindication for administering a pertussis containing vaccine.
What is encephalopathy not attributable to another identifiable cause within 7 days of a previous dose of a pertussis containing vaccine
500

VZIG should be given to a newborn who's mother develops chickenpox between ___ days prior to delivery through ___ days after delivery.

What is 5 days and 2 days.

500

I can now hold my cheerios between my thumb and forefinger. What type of command should I be able to follow if my receptive language is developing appropriately?

One step command with gesture 

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