DWARFISM Flashcards

1
Q

what is dwarfism?

A

short stature
height-vertex below 2SD or in 3rd percentile for given age and sex
generally- adult height of 4 foot 10 in (147 cm) or less

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2
Q

what does dwarfism result from?

A

medical condition or genetics

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3
Q

what 2 categories is dwarfism put into?

A

disproportionate- present at birth or in early infancy; most common type is achondroplasia -> normal size torso and short limbs
proportionate- not immediately apparent; d/t growth hormone deficiency-> pt smaller than average all over

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4
Q

what is the etiology of dwarfism?

four bullet points

A
  1. familial short stature (FSS)
    - low-normal height velocity throughout life
    - matches parental height (child is short like their parents
  2. constitutional delay of growth and puberty
    - short height in childhood, but attainment of target height in adulthood; “late bloomer”
  3. idiopathic short stature (ISS)
    - short stature with no other etiology (endocrine/metabolic) can be determined
  4. endocrine disorders
    - growth hormone deficiency (GHD) or growth hormone insensitivity
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5
Q

bone disease etiology of dwarfism?

A
  1. achondroplasia- 90% dwarfism- auto dom where theres inhibition of chondrocyte proliferation -> impairment of endochondral bone formation
  2. spondyloepiphyseal dysplasia: primarily involves vertebrae and proximal epiphyseal centers
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6
Q

systemic disease etiology of dwarfism?

A

systemic dz has 2ndary effect on growth

  • undernutrition, juvenile idiopathic arthritis, IBD, celiacs, CKD, pulm/cardiac/immunologic/metabolic dz, cancers, glucocorticoid therapy
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7
Q

what is proportionate GH deficiency exactly?

A

pituitary gland fails to produce adequate supply of growth hormone
-can be congenital or acquired

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8
Q

what are signs of proportionate GH deficiency?

A
  1. height below 3rd precentile on standard pediatric growth charts
  2. growth rate slower than expected for age
  3. delayed or no sexual development during teen years
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9
Q

what are features of proportionate GH deficiency?

A

head, trunk. and limbs are all proportionately small
poor development of organs

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10
Q

which of these is most common form of dwarfism?

A

achondroplasia

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11
Q

what are the clinical features of the body in achondroplasia?

A

average sized trunk
short arms and legs, particularly noticeable in upper arms and thighs
short fingers, often with wide separation between middle and ring fingers (trident hand)
limited mobility at elbows

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12
Q

what are the clinical features of the head in achondroplasia?

A

disproportionately large head with prominent forehead and flattened bridge of nose

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13
Q

what is a very specific but important characteristic of the legs in achondroplasia?

A

progressive development of bowlegs

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14
Q

what are the last 3 miscellaneous clinical features of achondroplasia?

A

protruding jaw (sometimes poor dental structure), progressive exaggeration of lumbar lordosis, decrease in muscle tone (hypotonia) and loose joints

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15
Q

when can disproportionate dwarfism be suspected?

A

during a prenatal US where very short limbs disproportionate to the trunk can be seen

in this case you then go on to genetically test by chorionic villus (cvs) sampling or amniocentesis

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16
Q

what is an important way to diagnose dwarfism other than prenatal US and all that comes with it?

A

growth curves: they are growth patterns documented on appropriate age and sex growth curve

17
Q

at birth-36 months what will you look for on growth curve?

A
  1. length-for-age and weight-for-age
  2. head circumference-for-age and weight-for-length
18
Q

at ages 2-20 years what do you look for on growth curve?

A
  1. stature-for-age and weight-for age
  2. BMI-for-age
19
Q

how is accurate measurement of child <24 months conducted?

A

supine

20
Q

only children with ____ requires further evaluation.

A

height <2 SD

21
Q

what is the boys calculation?

A

(fathers height (cm)+ moms height (cm) +13 cm)/2

22
Q

whats the girls calculation?

A

(fathers height (cm)+ moms height (cm) -13 cm)/2

23
Q

what is an important method of diagnosis for dwarfism regarding xray?

A

bone age with a hand x-ray
- x-ray performed in standardized manner and compared to reference

24
Q

what labs should be drawn in dwarfism?

A
  1. cbc w/ diff- anemia and chronic illness
  2. ESR- chronic inflammatory diseases (ibs)
  3. thyroid studies
  4. CMP- renal and liver diseases
  5. ab testing - igA for celiacs
  6. IGF-1- GH Deficiency
  7. sweat chloride- CF
  8. pre-albumin and albumin- malnutrition
25
Q

what does not require treatment?

A

constitutional growth delay and familial short stature

26
Q

in growth hormone deficiency what is the management?

A

GH replacement therapy indicated in:
1. current height below -2.25 SD of mean
2. epiphyses not closed
- (rhGH) recombinant human growth hormone
>daily or sustained-release formulations
> growth response is greater when rhGH is
initiated at younger vs. older age

27
Q

achondroplasia management:

A

no specific treatment
interventions for complications as they occur
genetic counseling