Kaplan Lec 2 & 3

Question 1

7 Ps of Patau syndrome:

Answer 1

holoProsencephaly, cleft liP and Palate, Polydactyly, Pump disease (congenital heart disease), Polycystic kidney disease, cutis aPlasia.

Question 2

Triad of Ehlers-Danlos Syndrome

Answer 2

hyperextensible skin, joint hypermobility, and a tendency to bleed easily.
autosomal D

Question 3

Normal growth velocity

Answer 3

4cm/yr

Question 4

Term, healthy infant wt loss

Answer 4

-first week of life, loses up to 10% of birth weight (BW).
-Term infant tends to gain weight around 3-4day,
-By 2 weeks, BW should be regained or surpassed. In the first month of life, a neonate should gain ~30 grams (1 oz) per day,

Question 5

Organic causes of FTT. 5

Answer 5

malnutrition, malabsorption (infection, celiac disease, cystic fibrosis,
disaccharide deficiency, protein-losing enteropathy), allergies, immunodeficiency,
and chronic disease

Question 6

Beckwith Widman Syndrome

Answer 6

• Defect in IGF –> overgrowth
  -Macrosomia
• hemi hypertrophy of one side of body
• Lage tonge
• High insulin and Low Glucogen –> hypoglycemia
• Omphalocele
• Increase risk of Wilms tumor and hepatoblastoma

Question 7

Turner 4
Heart
kindney
Tratment

Answer 7

-Cardiac:
° Bicuspid aortic valve (number 1 cardiac anomaly)
– Horseshoe kidney and other renal defects
– Estrogen treatment indicated + GH

Question 8

Drugs that make breastfeeding absolute contraindication. 6

Answer 8

atropine, lithium, chloramphenicol, cyclosporin,
nicotine, alcohol

Question 9

Fragial X is inherited as ——-

Answer 9

x-dominant

Question 10

Features of parder willi. 6

Answer 10

3Hs & O
Hypotonia
Hypomentia- MR
Hypogonadism
Obesity

Small hands and feet, puffy; small genitalia
– Hypothalamic-pituitary dysfunction (growth, thyroid, adrenal)
hypogonadotropic-hypogonadism

Negligible recurrence risk

Question 11

Angelman syndrome 5

Answer 11

• in approperiate laugh
• seizure
• Ataxia with abnormal movement of the limbs
• Absent speech or reduced
• S.Mental R

Question 12

Achondroplasia. 5

Answer 12

• AD
• Short
  -Lumber lordosis
• Megallocephally with small forimen magnun–> obsructive hydrocephallus
• small eutashian tube–> recurrent otitis media

Question 13

Marfan rheumatologic finding

Answer 13

• AD
• Joint laxaity
• Khyphoscoiolosis
• Arachnodactyly

Question 14

Fetal alcohol syndrome

Answer 14

-Neurobeharvioural abnormalities
-Growth Abnormalities including symmetric IUGR
- Hypoplasia of the maxilla
- smooth phlithrum
- thin vermolian boarder
- heart abnormalities
- joint abnormalities

Question 15

Fetal hydentoin syndrome 4

Answer 15

• hirsitisum
• Hpertolosium
• Clef lip and cleft palate
• Cardia abnormalities