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Pediatrics Rotation and Shelf Review Nicholaus Josey
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Genetic Disease & Syndromes
Down’s Syndrome Trisomy 21 Decreased tone Oblique palpebral fissures Simian crease Large tongue Mental retardation
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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
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Genetic Disease & Syndromes
Edward’s Syndrome Trisomy 18 Omphalocele Rocker-bottom feet Hammer toe Microcephaly Clenched hands
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Genetic Disease & Syndromes
Patau’s Syndrome Trisomy 13 HoloProsencephaly Severe Mental Retardation Microcephaly Cleft Lip and Palate Polydactyly
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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
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Genetic Disease & Syndromes
Klinefelter’s Syndrome 47 XXY Tall and lanky male Mild Mental Retardation Gynecomastia with hypogonadism
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Genetic Disease & Syndromes
Neurofibromatosis Type 1 Autosomal Dominant Café-au-lait spots Seizures Macrocephaly
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Genetic Disease & Syndromes
Smith-Magenis Syndrome Deletion on chromosome 17 Broad and square face Short stature Self-injurious behavior
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Genetic Disease & Syndromes
AngelMan Syndrome Deletion on Maternal chromosome 15 3 S’s Seizures Strabismus Sociable infant with inappropriate laughter
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Genetic Disease & Syndromes
Prader-Willi Syndrome Deletion on Paternal chromosome 15 3 H’s Hypotonia Hypogonadism Hyperphagia
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Genetic Disease & Syndromes
Cornelia de Lange Syndrome IUGR Hypertonia Limb malformations Distinctive facial features Hyperactive Self-injurious
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Genetic Disease & Syndromes
Fragile X Syndrome Most common type of Mental Retardation in boys CGG Repeats Macrocephaly Macro-orchidism Large ears
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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
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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
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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
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Genetic Disease Review
Smith-Magenis Syndrome Deletion on chromosome 17 Broad and square face Self-injurious behavior
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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
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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
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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
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Growth and Development
Nutrition Benefits of breast feeding Improved maternal/baby bonding Transfer of protective maternal IgA antibodies Reduced cost and hassle
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Growth and Development
Nutrition Contraindications to breast feeding Galactosemia PKU HIV HSV of the breast Chemotherapy Lithium Iodide Alcohol
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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
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Growth and Development
Abnormal Growth Familial Short Stature Bone age is equal to real age Parents are both short
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Growth and Development
Abnormal Growth Obesity Bone age is greater than real age Excess weight slows vertical height development
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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
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Growth and Development
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Growth and Development
Developmental Milestones
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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
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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
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Growth and Development
Immunizations Due at Birth: HepB But what if mom is HbsAg+ HepB IVIG and Vaccine are given
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Growth and Development
Immunizations Due at 2, 4 and 6 months: HepB Rotavirus DTaP HiB PCV IPV
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Growth and Development
Immunizations Starting at 6 months and then yearly: Influenza Due at 12 months: MMR Varicella HepA
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Growth and Development
Immunizations Due before age 2: DTaP 2nd HepA Due before kindergarten: Last IPV MMR Varicella
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Growth and Development
Immunization Summary Hep B = 3 DTaP = 5 Hib = 4 IPV = 4 Varicella = 2 PCV= 5 Hep A = 2
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Growth and Development
Immunization Summary
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