Abnormal Growth of the ped patient Flashcards
(102 cards)
1
Q
What are the ways to evaluate growth? (4)
A
- History
- Measurement of parameters
- bone age
- PE
2
Q
What is auxology?
A
Comparison of growth pattern with established norms, measuring height-weight-head circumference
3
Q
What is the characteristics of the growth pattern in children?
A
Pulsatile or seasonal (discontinuous process)
4
Q
What are the key components of the history that are key in evaluating childhood growth?
A
- Weight-length-head cir
- Prenatal history
- dietary hx
- Developmental history
5
Q
What are the two growth charts that are used and when?
A
WHO charts for children less than 2 yo
CDC/NCHS for 2-19 yo
6
Q
What are the two special growth charts for children with growth diseases?
A
- Turner syndrome
- Achondroplasia
7
Q
What is the normal weight for height percentiles?
A
2.3rd percentile to 97.2th precentile
8
Q
What are the normal percentile ranges for overweight, obese and underweight BMIs?
A
Overweight = 85-95 Obese = more than 95 Underweight = less than 3rd
9
Q
What is the most important body proportion to measure?
A
Upper segment to lower segment
10
Q
What is the definition of failure to thrive for children?
A
Less than the 2nd percentile for age and sex, AND decreased velocity of weight gain, but not length
11
Q
What is the most common cause of FTT?
A
Inadequate intake
12
Q
What are the five general causes of FTT?
A
- Inadequate intake
- Inadequate absorption
- Increased urinary/intestinal losses
- Increased requirements
- Ineffective utilization
13
Q
What are the factors that should be assessed for with the PE for FTT children?
A
- Malnutrition/vitamin deficiencies
- Abuse/neglect
- Behavioral/development
14
Q
What are the labs that are useful for assessing FTT? (5)
A
CBC urinalysis BUN/Cr Lead LFTs
15
Q
What are the imaging tests that are useful for FTT?
A
- Upper GI series
- Ba swallow
- Gastric emptying
16
Q
What is the goal of treating FTT?
A
Catch up to normal growth curve in 3-6 months
17
Q
What are the five questions to evaluate with a tall stature?
A
- Abnormal height
- Abnormal height growth
- Growth within family range
- Evidence of accelerated growth
- Dysmorphic features
18
Q
When defines abnormal height?
A
More than 97.7th percentile
19
Q
What defines an abnormally rapid growth?
A
Height for age curve deviated upwards across 2 major height percentile curves
20
Q
What is the most common cause of abnormal height in children?
A
Incorrect measuremets
21
Q
What determines if a child is growing faster than its parents?
A
More than 2 SDs of Mid parental height
22
Q
How do you determine if there is accelerated growth?
A
Advanced bone age
23
Q
What is bone age?
A
Left hand and wrist radiographs are taken, and bone age determined by epiphyseal plates
24
Q
What determines the bone age normals?
A
Epiphyseal plate measurements compare to standards
25
How do you determine the mid parental height for boys?
Mom's height = 5 in + fathers height over 2
26
How do you determine the mid parental height for girls?
Fathers height - 5 in + mother's
/2
27
What is the target height based on midparental height?
Mid parental height + or - 2 SD
28
What is the most common cause of overgrowth in infancy? What pathology are the kids at risk of developing?
Maternal DM
DM themselves
29
What is Sotos syndrome? Treatment?
a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life.
No treatment needed.
30
What is the prognosis for Sotos syndrome?
Will grow fast, but reach normal levels, and have advanced bone age
MR and instability
31
What is Beckwith-Wiedemann syndrome? Prognosis?
Sporadic defect in chromosome 11, that causes an overactivity of IFG-2
Will grow up normally
32
What are the three major causes of tall stature in childhood and adolescence?
- Familial
- Endocrine
- Non-Endocrine
33
What is familial tall stature?
Height is 2 SDs above the mean, but no pathology or dysmorphic features, and normal bone age.
34
What are the two major types of precocious puberty? In which gender are these more common?
Central (hypothalamic/pituitary) and peripheral
Both more common in females
35
What are the peripheral causes of precocious puberty? (3)
- Congenital adrenal hyperplasia
- Testicular or ovarian tumors
- McCune-Albright syndrome
36
What is the relative height of children with precocious puberty (as a child/adult)?
Tall as a child, but short as an adult
37
What are the features of GH excess?
- Obese
- Large hands and feet
- Coarse facial features
- Frontal bossing
- Projection of jaw
38
Do pts with GH excess have normal bone age?
yes
39
Do pts with precocious puberty have normal bone age?
No, advanced
40
What are the labs values that can help identify GH excess? Which is the most accurate?
Elevated IGF-1
| **IGFBP-3**
41
What is the treatment for GH excess?
Surgery
Radiation
Meds
42
What is the height range for GH excess?
3-4 SDs above (more than the 99.9th percentile)
43
Do pts with hyperthyroidism have normal bone age?
No, advanced bone age
44
What are the ssx of hyperthyroidism in children?
Same as adults, but subtle tall stature
45
What is the prognosis for hyperthyroidism in children?
Treatment normalizes growth
46
What are the defining clinical features of sex hormone deficiency/insensitivity? (3)
Eunuchoid proportions
- long legs
- reduced UL segment ratio
- Low sitting height
47
What is type 1 familial glucocorticoid deficiency?
AR disorders d/t mutation in ACTH receptor, that cause primary adrenal insufficiency, but high ACTH
48
What are ACTH, Cortisol, and adrenal androgen levels with type 1 familial glucocorticoid deficiency?
- High ACTH
- Low cortisol
- Excessive adrenal androgens
49
What are the sequelae of type 1 familial glucocorticoid deficiency?
Hypoglycemia
Szs
Hyperpigmentation
50
What is exogenous obesity?
- Tall, early onset puberty
- Low GH production, but normal IGF-1
- BMI more than 95th %
51
What are the GH levels with exogenous obesity?
Low GH but normal IGF-1 and IGFBP
52
What is melanocortin-4 receptor mutation?
AD or AR gene that causes hyperphagia, hyperinsulinemia, and obesity
53
True or false: pts with melanocortin-4 receptor mutation have preserved reproductive function
True
54
What is Klinefelter's syndrome?
-2 or more X chromosomes in males (XXY)
55
What are the signs of Klinefelter's syndrome? (4)
- Long legs, short trunk
- Small testes
- Gynecomastia
- MR
56
What is the treatment for Klinefelter's syndrome?
Testosterone
57
What is the bone age in Klinefelter's syndrome?
Normal or delayed
58
What are the signs of XYY syndrome?
- Problems with motor and language development
- Large teeth
- Incoordination
- ADHD and autism
59
What is the inheritance pattern of Marfan's?
AD
60
What are the signs of Marfan's syndrome?
- Arachnodactyly
- Joint hyperextension
- Scoliosis, pectus excavatum
61
What is the bone age line in Marfan's?
Normal
62
How do you differentiate homocystinuria from Marfan's?
Lens subluxated downward, not upwards
MR present
High homocysteine levels
63
What are the signs of Homocystinuria?
- MR
- High homocysteine levels
- Risk for thromboembolic events
64
What is Von Recklinghausen's disease (NF1)?
AD dysregulation of GH, leading to precocious puberty, neurofibromas, and optic glyomas
65
What are the pulmonary diseases that can cause short stature? (3)
CF
Asthma
Immunodeficiencies
66
Hypertelorism + downward slanting eyes, low set ears = ?
Noonan syndrome
67
Midface hypoplasia + frontal bossing + trident hands = ?
Achondroplasia
68
Midline defects = ?
Hypothalamic pit hormone deficiencies
69
Webbed neck + shield chest + stocky = ?
Turner syndrome
70
Webbed neck + pectus excavatum?
Noonan syndrome
71
Madelung deformity of the forearm = ? (2)
Turner's syndrome or SHOX mutations
72
What is the bone age like in Cushing's?
Normal
73
What are the ssx of Cushings in children?
Weight gain
| Growth retardation
74
Short stature in a girl should be suspicious for what?
Turner syndrome
75
How do you diagnose turner's syndrome?
Karyotyping
76
What is the usual cause of GH deficiency?
Pituitary pathology (GHRH deficiency or tumors)
77
What is the bone age like with GH deficiency?
Delayed
78
What is the bone growth with Turner's syndrome?
Delayed
79
What are SHOX mutations?
Short stature Homeobox Gene on the X chromosomes, causing short stature and skeletal abnormalities--appear very similar to marfans
80
What is the treatment for SHOX mutations?
GH
81
What are the three measures of proportionality?
- Weight for height
- BMI
- US/LS
82
How do you measure the upper to lower segments?
Pubic symphysis down = LS
| Above = height - LS
83
What happens to the US/LS ratio with Turner's syndrome? Marfan?
Increased in turner's
| Decreased in Marfan's
84
What is the difference between wasting and stunting?
```
Wasting = weight is lagging compared to length
Stunting = Child is born normally, but weight, then length drops
```
85
What is the progression of stunting?
Child born normally, but then decreased weight, then length, then head circumference
86
What are the GH and IGF-1 levels in patients with Sotos syndrome?
Normal
87
What is the cause of sex hormone deficiency or insensitivity?
Deficiency in testosterone or estrogen
88
What is the most common, monogenic cause of obesity?
Melanocortin-4-receptor mutation
89
What is the treatment for the stature of 46 xyy syndrome?
Nothing
90
What is the definition of short stature in children?
Less than the 3rd percentile
91
How can you tell if a child's growth is abnormally slow?
Height for age curve deviated downward across 2 major high percentile curves
92
How can you differentiate abnormally slow growth from naturally slow growth?
Midparental height
93
What is the prognosis of GH deficiency if identified quickly?
Good-- rapid catch up when treated
94
What is the genetic abnormality with Turner's syndrome?
XO
95
What is the treatment for Prader-willi syndrome?
GH
96
What is noonan syndrome? ssx (eyes, ears, neck, chest)?
AD mutation in RAS cascade
- Hypertelorism, downward slanting eyes, low ears
- Webbed neck
- Pectus excavatum
97
What is the treatment for Noonan syndrome?
GH
98
What is the cause of achondroplasia?
Inherited mutation in fibroblast growth factor receptor 3 (FGFR3). In normal development FGFR3 has a negative regulatory effect on bone growth. In achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely shortened bones
99
What is Rhizomelia?
refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder.
100
What is hypochondroplasia?
a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia,[2] and a head that appears large when compared with the underdeveloped portions of the body.
It is classified as short-limbed dwarfism.
101
What is spondyloepiphyseal dysplasia?
a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen. Leads to short trunk dwarfism, but normal limbs.
102
What is the mutation that underlies osteogenesis imperfecta?
Most cases are caused by mutations in the COL1A1 and COL1A2 genes, both of which code for type I collagen
