Growth disorder Flashcards

1
Q

Normal variants of short stature (2)

A

familial short stature

constitutional delay

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2
Q

Pathologic short stature EXCEPT

a. skeletal dysplasia
b. Constitutional delay
c. Psychosocial dwarfism
d. Chronic anemia

A

B

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3
Q

Prenatal cause of short stature EXCEPT

a. IUGR
b. placental diseases
c. dysmorphic syndromes
d. endocrine disorders

A

D

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4
Q
Cause of short stature when:
annual growth rate normal
height at or below 3rd percentile
no systemic or endocrine disease
pubertal growth at normal age
skeletal age equal to chronological age
ancestors relatively short
A

Familial short stature

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5
Q

Cause of short stature when
exaggerated “phase change” growth deceleration
transient deficiencies in GH secretion
severity of CDGP/BA delay reflects duration of periods of impaired GH secretion
slowed tempo of growth -> BA delay -> eventual pubertal delay
eventually reaches adult height/normal predicted adult height
normal at birth length

A

constitutional delay

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6
Q

Lumbar lordosis
short extremtities
frontal bossing
normal intelligence

A

Achondroplasia

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7
Q
bowed legs
stunted growth
large forehead
trouble sleeping
widening of wrists
A

Rickets

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8
Q

Small head
prominent beak-like nose
developmental delay
“bird headed dwarfism”

A

Seckel syndrome

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9
Q
hypertelorism
periauricular pit
developmental delay
small for age
short upper lip
short philtrum
cleft lip/palate
A

Wolf Hirschhorn syndrome; Greek warrior helmet

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10
Q
upslanted eyes
low set ears
simian crease
gap bet 1st and 2nd toes
mental retardation
A

Trisomy 21

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11
Q
Prominent occiput
micrognathia
low set ears
overlapping 4th and 5th fingers
rocker bottom feet
mental retardation
A

Trisomy 18

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12
Q
Microcephaly
microphthamia
cleft lip/palate
polydactyly
umbilical hernia
rocker bottom feet
A

Trisomy 13

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13
Q

Physiologic effects of thyroid hormone:

Cardio

A

increased heart rate and CO

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14
Q

Physiologic effects of thyroid hormone:

GI

A

increased gut motility; hyperthy - diarrhea

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15
Q

Physiologic effects of thyroid hormone:

Pulmo

A

maintenance of normal hypoxic and hypercapnic drive

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16
Q

Physiologic effects of thyroid hormone:

Neuromuscular

A

increased muscle protein turnover and increased speed of muscle contraction and relaxation

17
Q

Physiologic effects of thyroid hormone:

Lipids and Carbs in terms of hepatic gluconeogenesis and glycogenolysis and intestinal glucose absorption

A

increase

18
Q

Physiologic effects of thyroid hormone:

in terms of cholesterol synthesis and degradation

A

increase

19
Q

Physiologic effects of thyroid hormone:

in terms of lipogenesis

A

decrease

20
Q

Physiologic effects of thyroid hormone:

sympathetic nervous system - B adrenergic receptor in heart, skeletal muscle, lymphocytes;

A

increase

21
Q

Physiologic effects of thyroid hormone:

sympathetic nervous system: in terms of cardiac alpha-adrenergic receptors

A

decrease

22
Q

Physiologic effects of thyroid hormone:

in terms of catecholamine sensitivity

A

increase

23
Q

Physiologic effects of thyroid hormone:

Hematopoiesis

A

increase RBC, increase 2,3 DPG to increase oxygen availability to tissues

24
Q
4 fingers with syndactyly
craniosynostosis
sunken appearance of face
bulging, wide set eyes
beaked nose
crowded teeth
A

Apert syndrome

25
Q

Anterior pituitary hormones (6)

A
FSH
LH
TSH
ACTH
PRL
GH
26
Q

Posterior pitutary hormones

A

ADH

Oxytocin

27
Q
Overgrowth disorder
developmental abnormalities
macroglossia
macrosomia
abdominal wall defects
renal abnormalities
ear pits/creases
A

Beckwith Wiedemann

28
Q
Autosomal recessive
intellectual disability 
ectopia lentis downard
normal aorta
overgrowth
A

Homocystinuria

29
Q

Autosomal dominant
normal intelligence
ectopia lentis upward
aortic dilation

A

Marfan

30
Q

gigantism
excessive growth starts at infancy
autism, mild intellectual disability
NSD1 gene

A

Sotos syndrome