Growth Deficency And Congenital Syndromes

Question 1

Weight less than 3rd percentile

Crossing two major percent lines

Less than 80 % of median wt for ht

Answer 1

If any are true = FTT

Question 2

3 types of FTT

Answer 2

Wasting (type I)
Stunting (Type II)
Symmetric (Type III)

Question 3

If an infant feeds poorly while in the hospital think…

Answer 3

Difficulty sucking or swallowing (neuromuscular)

Poor intake (takes small feedings only)

Frequent vomiting/regurgitation (structural GI defect)

Question 4

Tx for FTT

Answer 4

Nutrition mgmt

Increase calories and protien 1.5x

Refer

Question 5

Infants presents with hypotonia, decreased moro reflex

Small head

Up slanting palpebral fissures , épica that folds, and a flat nasal bridge, +small irregular ears and macro glossia

Answer 5

Down syndrome Trisomy 21

increased risk of Developmental delay
ASD, VSD, or Valve Dz

Polycythemia or Leukemia

Question 6

Brushfield spots ( small, white-grayish/brown spots on the periphery of the iris ) are signs of what congenital abNML

Answer 6

Down syndrome

Question 7

A pt with a double bubble on CXR

Should get what workup

Answer 7

Duodenal atresia 2/2 Down syndrome

Needs immediate SRGRY referral

Question 8

Routine F/u for down Syndrome

Answer 8

hearing q 6 months for 3 years then annually

Cardio con. At birth

Optho by 6 mon then annually

Anual TSH, CBC

Annual OSA screen

Annual Celiac

Question 9

A pt presents with short palpebral fissures, smooth philtrum(ear) and thin upper lip

Think

Answer 9

Fetal Alcohol syndrome

Question 10

Hockey stick crease of the hand… think

Answer 10

FAS

Question 11

Tx approach to FAS

Answer 11

Multidisiplinary team effort for child
ADHD (stimulants)
Anxiety (therapy)
Speech therapy
Special education

Question 12

A pt presents with a large head, macro orchidism, hypotonia, and joint laxity, with hyper arousal, anxiety, and hand flap (stereotype)

Think

Answer 12

Fragile X syndrome

Question 13

Treatment for fragile X syndrome

Answer 13

Diagnosis
—DNA amplification with direct analysis

Treatment

• Genetic counseling
• Special education
• Autism evaluation referral (many have autism spectrum disorders)
• Neurology referral for seizures

Question 14

A pt presents with short stature, webbed neck, and shield chest (wide spaced nipples) and a triangular face

Think

Answer 14

Turner 45XO

Increased risk of Coart
Amenorrhea/ infertile
Horseshoe kidney
Hypothyroidism

Question 15

What is the treatmetn for Turner Syndrome

Answer 15

Diagnosis
Chromosomal analysis

Treatment
Endocrinology consult for GH initiation during childhood

Start estrogen replacement at 14 years of age

Monitor for hypothyroidism

Cardio consult at diagnosis :
Echo, cardiac MRI, and ECG

Renal ultrasound

Question 16

A pt that presents with primary hypogonadism, small testes with dysfunction present at onset of puberty

Think

Answer 16

Klinefelter syndrome

Question 17

How do we treat klinefetler syndrome

Answer 17

Diagnosis
Chromosomal analysis

Increased LH and FSH, low testosterone

Treatment
Endocrinology referral:
-Testosterone replacement will treat hypogonadism and cause virulization
-Does not adequately treat infertility

New techniques to harvest viable sperm can allow to father children

Risk of breast cancer 16-30 times that of other men

Question 18

A pt presents with reduced upper to lower body ration, and arm span exceeding ht

Think of what

Answer 18

Marfans

Also dilation/ dysfunction of the aorta root

Eye problems as well (lens dislocation)

Question 19

What is the treatment for Marfan syndrome

Answer 19

Diagnosis
Based on clinical criteria, confirmed with FISH studies

Treatment

• Refer to Cardiology for eval and management
• Elective aortic root replacement when sonographic criteria are met
• Endocarditis prophylaxis
• Restriction of vigorous physical exercise, competitive or contact sports, and particularly isometric exercises (ie weight lifting)
• Yearly evaluations for scoliosis (ortho) and ophthalmologic problems (ophthalmology)