Case Files

Question 1

Clinodactyly (D)

Answer 1

Incurving of one of the digits

Question 2

Brachydactyly

Answer 2

Excessive shortening of hand and foot tubular bones resulting in boxlike appearance

Question 3

Serum Trisomy Screening

Answer 3

AFP (low), hCG, estriol levels. Measured in 15-20 wks gestation

Question 4

Down Syndrome Features on newborn exam

Answer 4

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.

Question 5

DS most specific cardiac defect

Answer 5

endocardial cushion defect (AV canal defect)

Question 6

DS most common cardiac defect

Answer 6

VSD

Question 7

GI-associated DS problem

Answer 7

intestinal (usually duodenal) atresia (classic double bubble pattern)

Question 8

Other common newborn conditions associated with DS

Answer 8

hearing loss, strabismus, cataracts, nystagmus, congenital hypothyroidism

Question 9

Trisomy 18 (Edward’s Syndrome) Symptoms

Answer 9

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

Question 10

Trisomy 13 (Patau) Syndrome Symptoms

Answer 10

Microcephaly and sloping forehead, deafness, scalp cutis aplasia (missing portion of the skin and hair) and polydactyly

Question 11

Primary immunodeficiency examples

Answer 11

Severe combined immunodeficiency, Chronic granulomatous disease, C2 deficiency

Question 12

Treat HIV positive mother with what during second trimester?

Answer 12

Zidovudine

Question 13

DiGeorge syndrome: Chromosome abnormality? Characterized by what? Findings?

Answer 13

• 22q11 microdeletion
• Decreased T cell production, recurring infection
• Findings: Characteristic Facies, velocardiofacial defects (VSD, tetralogy of Fallot)

Question 14

Klinefelter Syndrome: Chromosome? CP?

Answer 14

XXY (paternal nondysjunction)

CP: Behavioral problems, developmental delay, gynecomastia, hypogonadism, long limbs

Question 15

Fragile X Syndrome CP?

Answer 15

Most common form of inherited MR, seen primarily in boys. Macrocephaly, long face, high arched palate, large ears, macroorchidism after puberty.

Question 16

Only drinking goat’s milk causes which anemia?

Answer 16

Low in Vit D, iron, folate and VB12. Megaloblastic anemia from folate or B12 deficiency. Also concerned for brucellosis if milk is unpasteurized.

Question 17

Niacin Deficiency causes what?

Answer 17

Pellegra (dementia, dermatitis, diarrhea)

Question 18

Severe thiamine Deficiency causes what?

Answer 18

Beriberi (neuritis, edema, cardiac failure)

Question 19

Folate deficiency can cause what?

Answer 19

megaloblastic anemia

Question 20

cobalamine (B12) deficiency can cause what

Answer 20

pernicious anemia

Question 21

Vit K def can cause what

Answer 21

hemorrhagic manifestations. Most infants are given VitK at birth to prevent these complications.

Question 22

Vit E can cause what in premature infants?

Answer 22

hemolytic anemia

Question 23

Vit D deficiency can cause what?

Answer 23

Rickets

Question 24

Vit C deficiency can cause what?

Answer 24

Scurvy and poor wound healing

Question 25

Galactosemia cause? CP? Management?

Answer 25

Cause: uridyl transferase deficiency.
-CP: jaundice, hepatosplenomegaly, vomiting hypoglycemia, seizures, lethargy, irritability, FTT, MR, liver failure…
Managed: lactose free formula (soy-based formula)

Question 26

What vitamins do breast-feeding moms usually supplement with?

Answer 26

Vitamin D and fluoride

Question 27

Breast feeding vegan mom should supplement infant’s diet with what?

Answer 27

Vit B12 to prevent methylmalonic acidemia

Question 28

Low pheylalanine formulas used for which infants?

Answer 28

Infants with Phenylketonuria

Question 29

Babies with MSUD (maple syrup urine disease) get what type of breast formula?

Answer 29

low-isoleucine, low-leucine, low-valine infant formulas

Question 30

Most common form of nonnutritional rickets?

Answer 30

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