+

Pediatrics Rotation and Shelf Review Nicholaus Josey

+Genetic Disease & Syndromes

Down’s Syndrome Trisomy 21

Decreased tone

Oblique palpebral fissures

Simian crease

Large tongue

Mental retardation

2

+Genetic Disease & Syndromes

Down’s Syndrome

Common medical complications

VSD and Endocardial cushion defects

Hirschsprung’s

Annular pancreas

Intestinal atresia

Atlanto-Axial instability

Increased risk of Alzheimer’s

ALL

3

+Genetic Disease & Syndromes

Edward’s Syndrome

Trisomy 18

Omphalocele

Rocker-bottom feet

Hammer toe

Microcephaly

Clenched hands

4

+Genetic Disease & Syndromes

Patau’s Syndrome Trisomy 13

HoloProsencephaly

Severe Mental Retardation

Microcephaly

Cleft Lip and Palate

Polydactyly

5

+Genetic Disease & Syndromes

Turner’s Syndrome 45 XO

Female with no breast development

Shield chest and short stature

Webbed neck

Streak Ovaries

Coarctation of the Aorta and Bicuspid Aortic Valve

High FSH

Tx:

Estrogen replacement

6

+Genetic Disease & Syndromes

Klinefelter’s Syndrome 47 XXY

Tall and lanky male

Mild Mental Retardation

Gynecomastia with hypogonadism

7

+Genetic Disease & Syndromes

Neurofibromatosis Type 1 Autosomal Dominant

Café-au-lait spots

Seizures

Macrocephaly

8

+Genetic Disease & Syndromes

Smith-Magenis Syndrome Deletion on chromosome 17

Broad and square face

Short stature

Self-injurious behavior

9

+Genetic Disease & Syndromes

AngelMan Syndrome

Deletion on Maternal chromosome 15

3 S’s

Seizures

Strabismus

Sociable infant with inappropriate laughter

10

+Genetic Disease & Syndromes

Prader-Willi Syndrome

Deletion on Paternal chromosome 15

3 H’s

Hypotonia

Hypogonadism

Hyperphagia

11

+Genetic Disease & Syndromes

Cornelia de Lange Syndrome IUGR

Hypertonia

Limb malformations

Distinctive facial features

Hyperactive

Self-injurious

12

+Genetic Disease & Syndromes

Fragile X Syndrome Most common type of Mental Retardation in boys

CGG Repeats

Macrocephaly

Macro-orchidism

Large ears

13

+Genetic Disease Review

Down’s Syndrome (Trisomy 21) Mental retardation VSD and Endocardial cushion defects Hirschsprung’s Intestinal atresia Increased risk of Alzheimer’s and ALL

Edward’s Syndrome (Trisomy 18) Omphalocele Rocker-bottom feet Microcephaly Clenched hands

14

+Genetic Disease Review

Patau’s Syndrome (Trisomy 13) HoloProsencephaly Cleft Lip and Palate Polydactyly

Turner’s Syndrome (45 XO) Female with no breast development Shield chest and short stature Streak Ovaries Coarctation of the Aorta and Bicuspid Aortic

Valve

15

+Genetic Disease Review

Klinefelter’s Syndrome (47 XXY) Tall and lanky male Gynecomastia with hypogonadism

Neurofibromatosis Type 1 Autosomal Dominant Café-au-lait spots Seizures Macrocephaly

16

+Genetic Disease Review

Smith-Magenis Syndrome Deletion on chromosome 17

Broad and square face

Self-injurious behavior

17

+Genetic Disease Review

AngelMan Syndrome Deletion on Maternal chromosome 15

3 S’s Seizures Strabismus Sociable infant with inappropriate laughter

Prader-Willi Syndrome Deletion on Paternal chromosome 15

3 H’s Hypotonia Hypogonadism Hyperphagia

18

+Genetic Disease Review

Cornelia de Lange Syndrome IUGR Distinctive facial features Self-injurious

Fragile X Syndrome Most common type of Mental Retardation in boys CGG Repeats demonstrating anticipation

19

+Growth and Development

Nutrition Newborns lose 10% of their birth weight in 1st week…

Double birth weight at 6 months

Triple birth weight at 1 year

Breast milk and formula both contain:

20 kcal/ounce

20

+Growth and Development

Nutrition

Benefits of breast feeding

Improved maternal/baby bonding

Transfer of protective maternal IgA

antibodies

Reduced cost and hassle

21

+Growth and Development

Nutrition

Contraindications to breast feeding

Galactosemia

PKU

HIV

HSV of the breast

Chemotherapy

Lithium

Iodide

Alcohol

22

+Growth and Development

Abnormal Growth

Constitutional Growth Delay

Bone age is less than real age

Likely to have normal final height

Parents were both late bloomers

23

+Growth and Development

Abnormal Growth

Familial Short Stature

Bone age is equal to real age

Parents are both short

24

+Growth and Development

Abnormal Growth

Obesity

Bone age is greater than real age

Excess weight slows vertical height development

25

+Growth and Development

Abnormal Growth Pathological Short Stature

Child starts on a normal growth curve

Declines to around 5% height for age

Consider:

Craniopharyngioma

Hypothyroidism

Hypopituitarism

Turner’s Syndrome

26

+Growth and Development

Growth

27

+Growth and Development

Development

al Milestones

28

+Growth and Development

Potty Training Children achieve Urinary Continence by:

5 years

Medical causes of incontinence include:

UTI

Constipation

Diabetes

Tx of enuresis:

First line = Behavioral

Second line= DDAVP

29

+Growth and Development

Potty Training Children achieve Fecal Continence by:

4 years

Most common cause of incontinence:

Constipation

Fecal retention

Tx:

Disimpaction

Stool softeners

High fiber diet

30

+Growth and Development

Immunizations

Due at Birth:

HepB

But what if mom is HbsAg+

HepB IVIG and Vaccine are given

31

+Growth and Development

Immunizations

Due at 2, 4 and 6 months:

HepB

Rotavirus

DTaP

HiB

PCV

IPV

32

+Growth and Development

Immunizations Starting at 6 months and then yearly:

Influenza

Due at 12 months:

MMR

Varicella

HepA

33

+Growth and Development

Immunizations Due before age 2:

DTaP

2nd HepA

Due before kindergarten:

Last IPV

DTaP

MMR

Varicella

34

+Growth and Development

Immunization Summary Hep B = 3

DTaP = 5

Hib = 4

IPV = 4

Varicella = 2

PCV= 5

Hep A = 2

35

+Growth and Development

Immunization Summary

36