how to diagnose and manage a short child?

1. Approach to short stature
By
Mohammed Ayad
Member of the royal college of pediatric
and child health

2. topics
1- definition.
2- measurements.
3- causes.
4- algorithm.
5- history.
6- examination.
7- investigations.
8-common disorders.
9- management.
10- summary.

3. 1- definition.
Short stature is a common problem and should
be early detected and managed.
About 2% of all children, or more than 1 million
children in the US, present with short stature.
Boys who are short are more likely to come to
medical attention than girls who are short.

4. Who is the short child?
1-Short stature is defined as height that is two
standard deviations below the mean height for age
and sex (less than the third percentile).
Or
2-more than two standard deviations below the
mid-parental height.
Or
3-A growth velocity disorder is defined as an
abnormally slow growth rate, which may manifest
as height deceleration across two major percentile
lines on the growth chart.

5. so, we can not say that this child is short
except after taking regular measurement
as a single measurement is usually
misleading, except if the child is far below
the 3rd centile and the mid-parental height
is well at the mean level.
Regular and accurate measurements are
extremely important.

6. 2-measurements
This is the most important part in diagnosis and
management of short stature.
one study found that 38% of boys and 20% of
girls who were referred were of normal height,
the referral being due to errors in measurement,
errors in plotting on the growth chart, or failure
to account for the child's genetic height
potential.

7. 1- how to measure the height?
2- how to plot on growth charts?
3- how to get mid-parental height?
4- how to get expected adult height?
5- other important measurements.

8. 1-How to measure height
It differs according to age;-
Up to 2 years…….. Supine position.
Legs should be stretched and 90 degree at ankle
joint.
……
After 2 years…… standing position.
Arms and legs are full stretched, head is looking
forwards, and no shoes.

11. 2-How to plot on growth charts?
It is vital to know some facts regarding growth
charts.
1- each country should have its own charts.
2- there are multiple types of growth charts, so
before plotting on the chart you should be sure that
you are using the right one.
You should check
*age.
*sex.

12. 3- there are special types of charts for example
for:-
Preterm babies.
Down syndrome.
Turner syndrome.
Skeletal dysplasia ( achondroplasia).
4- you should use growth charts frequently to be
familiar with this process.

14. 3- how to get mid-parental height?
Mid parental centile is very important because:-
*one of the most important causes of short
stature is familial short stature.
* A child may be considered short even if he is
on the normal centiles if he was born to
extremely tall parents. For example, if a child
was on 9th centile and his mid parental centile
was on the 98th , he should be considered short.

15. How to get mid-parental centile?
There are two ways:-
A- standard way using old growth charts
In a boy: Mid-parental height (cm) =
(Father's height + (Mother's height + 13))
divided by 2.
In a girl: Mid-parental height (cm) =
((Father's height - 13) + Mother's height)
divided by 2.

16. Examples:-
1-Ahmed is a 3 year old child, his father’s height
is 170cm, while his mother’s height is 167cm.
So we should use this formula
MPH = 170 + ( 167+13) = 350/2= 175cm.
Then we should plot this number on the curve to
get the mid parental centile.
2- Samah is a 4 year old child, her father and
mother’s height are 178 and 170 respectively.
MPH = 178-13 + 170= 335/2=167.5cm.

17. B- the new curves
In these curves, it’s very simple to get the MPH.
only you can plot father’s and mother’s height
on the appropriate part of the chart to get the
MPH.
This will be explained in the next slide.

19. What else about MPH

20. 4- how to get the expected adult
height?
THE NEW GROWTH CHARTS has a specific scale
for this matter, however, if you don’t have these
new charts you can still predict the adult height
using the MPH, this will be explained in the next
two slides.

21. New growth charts scale

22. How to use MPH to predict adult
height?
Simply
Most children will reach an adult height within 4
inches (10 centimeters) of this estimation.
So if the MPH was 170 cm, the expected height
will be 170+/- 10.
This means that the child’s height will be from
160 to 10 cm.

23. 5- other measures
Before giving up your measuring tab, you should
complete your measurements by these
important measures:-
1-Upper and lower segments.
2- Arm span.
And it is extremely valuable to have the WEIGHT,
and head circumference as this will affect your
differential diagnosis.

24. How to measure upper and lower
segments?
You should measure the upper segment( US )
then by using the total height you will obtain LS.
Upper segment is the sitting height.

25. Interpretation of US/LS ratio

26. Disproportionate short statue with short LS:-
Achondroplesia
Osteogenesis imperfecta.
Refractory rickets.
Disproportionate short stature with short US:-
Spondyloepiphysial dysplasia.
Mucopolysaccharidosis.

29. Arm span

30. The arm span is the distance between the tips
of the left and right middle fingers when a child
is standing against a flat wall with arms
outstretched as far as possible, creating a 90
degree angle with the torso.
In girls and boys, the arm span is shorter than
height before puberty and greater than height
after midpuberty. Arm span exceeds height by
5.3 cm (2.1 in) in the average adult man and by
1.2 cm (0.5 in) in the average adult woman.
Scoliosis and related conditions can lead to
shortened vertebral growth and an arm span
disproportionate to height.

31. 3- DD of short stature
In fact, there are many causes of short stature, but
the most common causes of short stature are:-
1- constitutional short stature.
2- familial short stature.
3- endocrinal causes as hypothyroidism and GH
deficiency.
4- chronic diseases as coeliac disease, CF and
chronic infection.
5- maternal deprivation.

33. 4- algorithm
There are many great algorithms to diagnose a
child with short stature, but I think the 2
algorithms which I have chosen simple and
effective.
By simple steps and accurate assessment you
can reach a diagnosis.

36. 5- history
A- perinatal history
Infections, placental insufficiency, poor
nutrition, and medication adverse effects can
impair fetal growth and development.
Perinatal history may point to specific
pathologies, such as hypopituitarism or
hypothyroidism; birth measurements reflect
intrauterine conditions; duration of gestation
determines pre- or post maturity.

37. B- nutritional history
Malnutrition is the most common cause of poor
growth worldwide; thus, a detailed history of
quality and quantity of nutrition is critical in the
evaluation of abnormal growth; a 24-hour food
recall or three-day food diary is important in the
evaluation.
Ask about nutrition, including problems with
feeding, appetite, food science, special diets or
any other indication of inadequate nutrition.

38. C- family history
Father's height and age during pubertal growth
spurt; mother's height and age at menarche;
heights of siblings, grandparents, uncles, and
aunts; medical conditions of family members.
The heights of parents determine the heights of
their children; most children also follow their
parents' pubertal tempos; certain genetic
disorders can lead to short or tall stature.

39. D- history of chronic diseases
This step is very important through system
review to exclude chronic infections and chronic
illnesses.
*GIT
Chronic diarrhea, abdominal pain and git
bleeding…… IBD.
Diarrhea, weight loss and abdominal
distention….. Coeliac disease.

40. *Respiratory
Recurrent pneumonia and adenoid….. CF.
Long history of uncontrolled asthma.
Prolonged use of steroids in asthmatic children.
*Renal
Polyuria and edema…… CRF.
Polyuria, rickets…..RTA.
Recurrent UTI….. CRF.
*others
Poor academic performance…. Hypothyroidism.
Recurrent infections and poor wound healing…..
Immunodeficiency.

41. E- social history
Growth is often impaired in refugees and in
children emerging from foster care or certain
international adoption settings.
The growth pattern with adequate nutrition in a
loving environment over time is critical to
distinguish pathologic GF from normal variant
short stature in such patients.

42. 6- examination
There is a unique examination technique which
can detect many disorders.
This approach consists of
A- measurements ( discussed before ) and
maneuvers.
B- General examination.

43. A- maneuvers
the aim is to detect signs of rare syndromes
and disorders.
1- hands and feet together
This will show asymmetry of Russell Silver
syndrome.
Put both arms together to show asymmetry.

44. 2-arms out straight
To detect cubitus valgus of Turner and Noonan.

45. B- general examination
1- characteristic facies
Achondroplasia
Turner syndrome
Noonan syndrome
Russell silver syndrome.
Mucpolysaccharidosis.

47. 2- hands and feet examination
Short 4th metacarpal ……. Turner.
Trident hand……. achondroplasia.
Wide carrying angle……. Turner.
Asymmetry……. Russell silver syndrome.

49. 3- head and neck
Short webbed neck…. Turner and Noonan.
Low posterior hair line…. Turner.
Low set ears…… Noonan.
Coarse features….. Mucopolysaccharidosis.
Blue sclera…… osteogenesis imperfecta.

51. 4- chest and abdomen
Rosary beads….. Rickets.
Wide spaced nipple….. Turner.
Distended abdomen…. Coeliac.
Hepatosplenomegaly…… muopolysaccharidosis,
thalassemia.
Stria……. Cushing syndrome.

53. 5- tanner staging
It is very important here because:-
Delayed puberty in
Constitutional short stature.
Turner syndrome.
Chronic illnesses.

54. 6- lower limbs
Bow legs and other signs of rickets

55. 7- back examination
This can demonstrate
Scoliosis.
Kyphosis.
Kyphoscoliosis.

56. 7- investigations
In fact, most cases of short stature do not need
to be investigated at the beginning. Close follow
up is the best option with good nutrition and
psychological support.
However, there are some indications of urgent
work up, these are:-
1- dysmorphic child.
2- disproportionate short stature.
3- signs of pathological causes.

57. How to start short stature
investigations?
Usually investigations are done according to
clinical assessment.
There is a great algorithm which illustrates how
and which one to start with.
After this I will illustrate the most common
investigations.

59. 1- bone age
Perform anteroposterior radiography of left
hand and wrist to assess bone age.
Although the most common usage of bone age
assessment is to differentiate familial from
constitutional short stature, there are other
benefits.

60. BA = bone age.
CA = chronological age.

61. 2- CBC.
This simple test may give clues to some
disorders.
Microcytic hypochromic anemia…… coeliac
disease and IBD.
Normocytic anemia…… Chronic diseases,
thalassemia and chronic renal failure.

62. 3- LFTs and RFTs.
Another simple investigations to role out chronic
kidney disease and other chronic liver infections.
Elevated serum bilirubin may be seen with
hemolytic anemias as thalassemia.

63. 4- hormonal assay.
These tests are needed when endocrinal disorders
are greatly suspected.
The most common endocrinal causes are:-
Hypothyroidism: TSH, free T4,T3.
GH deficiency:--IGF-I, IGF-binding protein 3 and GH
stimulation tests.
Cushing syndrome:- midnight serum cortisol,
salivary cortisol, 24-hour urinary free cortisol
estimations and dexamethasone suppression test.

64. 5- coeliac screen.

65. 6- karyotyping.
This test is specially for diagnosis of Turner
syndrome and to differentiate Turner from
Noonan syndrome.

66. 8- common disorders.
In this section we will discuss in brief the most
common causes of short stature and the
common differential diagnosis.
Those are
Familial vs constitutional short stature.
Turner vs Noonan.

67. Familial vs constitutional short
stature.

69. Turner syndrome

71. Noonan syndrome

73. 9- management
Management of short stature is mainly
management of the cause, however, there are
general rules:-
1- follow up.
2- good balanced nutrition.
3-good psychological support.

74. Indication of GH treatment in short
child
1- GH deficiency.
2- turner syndrome.
3- Russell silver syndrome.
4- CKD.

75. summary
Short stature is a common problem in pediatric
practice.
Measurements are the most important step in
assessment and management.
Growth charts should be used properly.
Regular follow up is the main initial
management step.
Familial and constitutional short stature are the
most common causes.

76. Turner syndrome should be suspected in every
short girl.
GH treatment is used in few specific cases.

77. Best Of Luck