Genetics

Question 1

Ingestion during preggers causes: Hypoplastic nasal bridge, chondrodysplasia punctata

Answer 1

Warfarin

Question 2

Ingestion during preggers causes: microcephaly, CHD with septal defects and PDA and FAS

Answer 2

Ethanol

Question 3

Ingestion during preggers: Facial and ear anomalies, CHD

Answer 3

Isotretinoin

Question 4

Ingestion during preggers: Ebstein anomaly, ASD

Answer 4

Lithium

Question 5

Ingestion during preggers: Hypoplastic nails, IUGR, cleft lip and palate

Answer 5

Phenytoin

Question 6

Ingestion during preggers: Congenital goiter, hypothyroidism

Answer 6

Radioactive iodine

Question 7

ingestion during preggers causes: Virilization of female

Answer 7

Testosterone like drugs

Question 8

Dental enamel hypoplasia, altered bone growth

Answer 8

Tetracycline

Question 9

Phocomelia, CHD, TOF or septal defects

Answer 9

Thalidomide

Question 10

Typical facies, CHD (TOF, TGA, HLHS)

Answer 10

Trimethadione

Question 11

Spina bifida

Answer 11

Valproate

Question 12

List of Autosomal Dominant diseases

Answer 12

AAHHMNCTV
Achondroplasia, adult PKD, Hereditary angioedema, Hereditary Spherocytosis, Marfans, Neurofibromatosis, protein C def, Tuberuos sclerosis, vWDx

Question 13

List of Autosomal Recessive diseases

Answer 13

CCGGIPSTW

CAH, CF, Galactosemia, Gaucher, infantile PKD, PKU, sickle cell, Tay-Sachs, Wilson

Question 14

Causes pregnancy loss, congenital malformations and mental retardation; often arise de novo during gametogenesis

Answer 14

Chormosomal disorders

–see family hx for spont abortions or higher-than-change frequency of children with chromosomal problems

Question 15

How do we work up chromosomal copy number abnormalities

Answer 15

karyotype, FISH or micorarray.

Question 16

X linked diseases

Answer 16

Bruton agamma, CGD, Color blind, Duchenne MD, G6PD, Hemophilia A/B, Lesch-Nyhan, Ornathine transcarboxylase defi

Question 17

Syndrome causing: congenital heart defect (typically pulmonary valve stenosis; also atrial septal defect and hypertrophic cardiomyopathy), short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge.

Answer 17

Noonans or ‘male turners’ seen in males and females

Question 18

What does galactosemia, fructosemia, tyrosinosis and G6P deficiency have in common

Answer 18

All are congenital deficiency of enZ; will accumulate metabolic precursors that damage vital organs
Both galactose and fructose make urinary reducing substances; all these are Autosomal Recessive inheritance

Question 19

How does tyrosinosis present?

Answer 19

Acute liver failure in infancy; d/t lack of enZ thus build up tyrosine and it’s metabolites in liver, kidney and CNS

Question 20

When and how does G6P defiency present?

Answer 20

around 3-4 mo age with FTT, hypoglycemia, hepatomegaly and acidosis

Question 21

12 yo presents with dizziness; workup shows HgB of 8 and 4,000 WBC with plats of 98,000. PE shows enlarged spleen and XR shows ‘Erlenmeyer flask’ apperance of femur. What would you expect to see on BM examination, what is the disease? How do you diagnosis dx?

Answer 21

Gaucher disease
BM show big cells engorged with glucocerebroside; have anemia/leukopenia/thrombocytopenia as BM is replaced by these cells
Dx with measuring Glucocerebrosidase level

Question 22

Mom is 8 mo pregnant and experiencing weight loss, anxiousness, feels warm and has racing heart. What would we worry about in her newborn

Answer 22

mom have thyrotoxicosis 2/2 to Graves; has thyrotropin receptor stimulating antiB that cross placenta; baby will have tachy, tachypnea with HEART FAIL, hyperactivity and irritability with low birth wt and microcephaly with vomiting and diarrhea.

Question 23

When is puberty ‘delayed’ in male? What are signs of starting of puberty on exam?
What test would you get if you were concerned about delayed puberty?

Answer 23

By 14 should show signs of puberty
penis >2.5cm or testes >3.0cm early signs
Radiograph of wrist is most helpful to determine if PE matches with bone age

Question 24

Child is deaf and had two different colored irises with lateral displacement of inner canthi and white forelock. What is inheritance pattern?

Answer 24

Waardenburg; Autosomal dominant

Question 25

Child has episodes of headache, tachycardia and hypertension... What can this tumor be associated with?

Answer 25

Pheocromocytoma | Tuberos sclerosis, Sturge-Weber, Ataxia-telangiectasia or part of MEN

Question 26

How does untreated or unrecognized galatosemia present in neonate

Answer 26

w/in first weeks of life baby with have FTT and emesis, won't gain weight, become jaundiced with elevated direct bili and hepatosplenomegaly with elevated LFTs and low serum glucose

Question 27

What is the inheritance pattern of achondroplasia

Answer 27

Auto Dominant

Question 28

What are signs of congenital hypothryoidism?

Answer 28

constipation, prolong jaundice, sluggish, macroglossia, poor feeds with apnea and sleepy PE of newborn will show abdominal distension and sleepy infant *give oral sodium-L-thyroxine right away

Question 29

1 yo with course face, cloudy cornea, hirsutism and hepatosplenomegaly. Normal at birth but now short for age

Answer 29

Hurler | Autosomal storage disease; alpha-1-iduronidase deficiency build up dermatan sulfate

Question 30

Kid has MR, short with brachydacytly of 4/5th digits, obesity and round face with subcapsular cataracts as well as perivascular calcifications of basal ganglia. What is diagnosis and what is patient's calcium and phosphorus levels

Answer 30

Albright hereditary pseudohypoparathyroidism Low Calcium High Phosphorus with high parathyroid levels

Question 31

How does a baby with CAH present?

Answer 31

first 5-15 days of life with anorexia, vomitting, diarrhea and dehydration. Will see hypoglycemia, hyponatremia, hyperkalemia may see increased pigmentation. Boys may have virilization.

Question 32

Kiddo has diapers that turn black when exposed to air with normal PE. Urine has reducing substances when tested with ferric chloride. Dx? and how does this present in adulthood?

Answer 32

Homogentisic acid oxidase defieincy from Alkaptonuria | children Asx and as adult see ochronosis (bluish pigment of cartilage and fibrous tissue devos; may have arthritis)

Question 33

What organ systems does Wilson's affect?

Answer 33

Liver dx with neurologic and behavioral change from buildup of copper as well as renal tubular dsfnx and kayser-fleicher rings; have Cu deposition in tissues with low cerumoplasmin

Question 34

What does the serum Ca and serum Phos look like in child with medullary carcinoma

Answer 34

C cells secrete calcitonin--> BUT pt usually has normal Ca and normal Phos

Question 35

What are the electrolyte abnromalities seen in CAH and why?

Answer 35

Hyponatremia and Hyperkalemia mineralcorticoid (aldosterone) and cortisol is affected thus low aldosterone impairs exchange of K for Na causing hypoNa and hyperK

Question 36

What is the pathogenesis in central diabetes insipidis and what are associated electrolyte imbalances?

Answer 36

``` No vasopressin (ADH) production thus RT are impermeable to water--> excreation of hypotonic urine w/ net loss of water and hemoconcentration of K and Na HyperNa and HyperK ```

Question 37

What are labs like in patient with nephrogenic diabetes insipidus?

Answer 37

labs are similar to central DI with release of hypotonic urine and hemoconcentration of Na and K: hyperK and hyperNa

Question 38

What are electrolyte findings in patient with hyperaldosteronism

Answer 38

More aldosterone = enhanced renal tubular sodium-potassium exchange HypoK, HyperNa, Hyperchloremia and alkalosis

Question 39

What is the defect in children with Addisons? What happens to their electrolytes?

Answer 39

Deficiency of glucocorticoids and mineralcorticoids. IMpaired resorption of Na and excreation of K and H+ at distal renal tubules with loss of water -if compensated Addisons have relatively normal labs; if in crisis have HypoNa, HyperK and hsock