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)
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.
I can lift my chest up during tummy time but my head still bobs when people help me sit
What is 2 months.
This syndrome is associated with the following features: hypospadias, omphalocele, macroglossia, macrosomia, hypoglycemia, hemihypertrophy
What is Beckwith Wiedemann Syndrome
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).
I can run well and I have 15 words
What is 18 months
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
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)
I can walk down the stairs holding the railing with both feet on one step
What is 24 months
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.
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)
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
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
Test used to diagnose the underlying disorder for a boy with intellectual disability, macrocephaly, mandibular prognathism, and large testes.
What is FMR1 molecular analysis
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.
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