Case Files Flashcards
Clinodactyly (D)
Incurving of one of the digits
Brachydactyly
Excessive shortening of hand and foot tubular bones resulting in boxlike appearance
Serum Trisomy Screening
AFP (low), hCG, estriol levels. Measured in 15-20 wks gestation
Down Syndrome Features on newborn exam
upslanting palpebral fissures, Brushfield spots (white or grey spots in the periphery of the iris), flat facial profile, small and rounded ears, excess nuchal skin, widespread nipples, pelvic dysplasia, joint hyperflexibility, fifth finger clinodactyly, single transverse palmar crease, hypotonia, poor Moro reflex, epicanthal folds, wide spacing between first and second toes.
DS most specific cardiac defect
endocardial cushion defect (AV canal defect)
DS most common cardiac defect
VSD
GI-associated DS problem
intestinal (usually duodenal) atresia (classic double bubble pattern)
Other common newborn conditions associated with DS
hearing loss, strabismus, cataracts, nystagmus, congenital hypothyroidism
Trisomy 18 (Edward’s Syndrome) Symptoms
weak cry, single umbilical artery, micrognathia with small mouth and high arched palate, clenched hand with overlapping of index finger over third finger, single transverse palmar crease, rocker-bottom feet, small pelvis, short sternum
Trisomy 13 (Patau) Syndrome Symptoms
Microcephaly and sloping forehead, deafness, scalp cutis aplasia (missing portion of the skin and hair) and polydactyly
Primary immunodeficiency examples
Severe combined immunodeficiency, Chronic granulomatous disease, C2 deficiency
Treat HIV positive mother with what during second trimester?
Zidovudine
DiGeorge syndrome: Chromosome abnormality? Characterized by what? Findings?
- 22q11 microdeletion
- Decreased T cell production, recurring infection
- Findings: Characteristic Facies, velocardiofacial defects (VSD, tetralogy of Fallot)
Klinefelter Syndrome: Chromosome? CP?
XXY (paternal nondysjunction)
CP: Behavioral problems, developmental delay, gynecomastia, hypogonadism, long limbs
Fragile X Syndrome CP?
Most common form of inherited MR, seen primarily in boys. Macrocephaly, long face, high arched palate, large ears, macroorchidism after puberty.
Only drinking goat’s milk causes which anemia?
Low in Vit D, iron, folate and VB12. Megaloblastic anemia from folate or B12 deficiency. Also concerned for brucellosis if milk is unpasteurized.
Niacin Deficiency causes what?
Pellegra (dementia, dermatitis, diarrhea)
Severe thiamine Deficiency causes what?
Beriberi (neuritis, edema, cardiac failure)
Folate deficiency can cause what?
megaloblastic anemia
cobalamine (B12) deficiency can cause what
pernicious anemia
Vit K def can cause what
hemorrhagic manifestations. Most infants are given VitK at birth to prevent these complications.
Vit E can cause what in premature infants?
hemolytic anemia
Vit D deficiency can cause what?
Rickets
Vit C deficiency can cause what?
Scurvy and poor wound healing
Galactosemia cause? CP? Management?
Cause: uridyl transferase deficiency.
-CP: jaundice, hepatosplenomegaly, vomiting hypoglycemia, seizures, lethargy, irritability, FTT, MR, liver failure…
Managed: lactose free formula (soy-based formula)
What vitamins do breast-feeding moms usually supplement with?
Vitamin D and fluoride
Breast feeding vegan mom should supplement infant’s diet with what?
Vit B12 to prevent methylmalonic acidemia
Low pheylalanine formulas used for which infants?
Infants with Phenylketonuria
Babies with MSUD (maple syrup urine disease) get what type of breast formula?
low-isoleucine, low-leucine, low-valine infant formulas
Most common form of nonnutritional rickets?
Familial, primary hypophosphatemia (X-linked dominant): Phosphate reabsorption is defective, conversion of 25 (OH)D to 1,25 (OH)2D is abnormal.
- moderately low serum phosphate
- low serum 1,25 (OH)2D
- low-normal serum Ca
- elevated serum Alk Phos
- hyperphosphaturia
- no evidence of hyperPTH
