In an emergency, if peripheral venous access not available, next step?
Intraosseous access
Screening test for PKU?
Guthrie test – presence of phenylalanine products in your
Infant with Turner’s – cause of edema?
Lymphatic dysgenesis
Patient with down syndrome who presents with ataxia, incontinence, and positive Babinski – most likely diagnosis?
Atlantoaxial instability
Difference glucose-6-phosphatase deficiency versus debranching enzyme deficiency?
Lactic acidosis, hyperuricemia, hyperlipidemia, doll-like face
Elevated transaminases, ketosis, normal kidneys/Uric acid/lactate
Small for gestational age infants are at risk for what complications?
Time course – breast-feeding jaundice versus breast milk jaundice?
First week of life versus extending into 3+ weeks of life
Newborn with surfactant deficiency – likely due to?
Maternal diabetes, prematurity
Facial dysmorphisms in fetal alcohol syndrome?
Only absolute contraindication for breast-feeding in infants?
Contraindications for breast-feeding in mothers?
Galactosemia
TB, HIV, herpetic breast lesions, varicella, chemo/drugs of abuse
Facial features in:
Marfan’s versus homocystinuria?
Homocystinuria = Marfan’s + thromboembolic event
Colics - start/end ages?
3 weeks to 4 months of age
Down syndrome – most common cardiac abnormality?
AV Canal defect (endocardial cushion defect)
McCune-Albright syndrome characterized by?
Precocious puberty, café au lait spots, multiple bone defects (breakages etc)