What are the differential diagnoses for disproportionate
short stature?
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1.
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Skeletal dysplasia: most likely, because
he is short stature with macrocephaly and dysmorphic features |
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2.
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Rickets: less likely, because there is no history
of nutrition deficiency nor family history of rickets |
|
3.
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Hypothyroidism: less likely, because he has no sign
and symptoms of hypothyroidism such as delayed development, constipation,
thick and broad tongue |
Impression:
Disproportionate short stature which is most likely caused by skeletal
dysplasia
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Discussion II
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Which investigations
help in identifying the cause of disproportionate short
stature?
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| > |
Skeletal dysplasia:
X-ray of the entire skeleton |
| > |
Hypothyroidism: TFT, and
bone age |
| > |
Rickets: Ca, PO4, alkaline
phosphatase, and long bone films |
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| |
Which investigations
are useful for diagnosis of obesity and insulin resistance?
| > |
Fasting blood
sugar |
| > |
Lipid profiles |
| > |
Oral glucose
tolerance test |
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Investigations:
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CBC: Hb 11.9 g/dL,
Hct 38% WBC 9,800/mm3. (N53% E 1% B 1% L 34% M 6% )
platelet 297,000/mm3.
FBS 92 mg/dL, Ca 8.9 (N=8.8-10.2),
Mg 1.92 (N=1.5-2.3), PO4 5.1(N=3.7-5.6) mg/dL
LFT: TP 7.9 g/dL, Alb 4.9 g/dL, Glob
3 g/dL, Alk Phos 185 U/L, Chol 211 mg/dL, AST 37 U/L, ALT 47 U/L,
TB 1.1 mg/dL, DB 0.41 mg/dL
Cholesterol 211, LDL 131, HDL 44,
TG 144 mg/dL
OGTT: normal
|
Time (min)
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0
|
30
|
60
|
90
|
120
|
|
BS (mg/dL)
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92
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132
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148
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119
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131
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TFT: FT4 1.10 mg/dL, T3 161.1 ng/dL,
TSH 4.9 uIU/mL: normal for age
Bone age: normal for age
Skeletal X-ray: long bone, pelvis, spine as
shown in figures (Click)
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Discussion III
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What is skeletal dysplasia?
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Skeletal dysplasia or osteochondrodysplasia
is a complex group of diseases caused by primary abnormalities
of cartilage or bone, which were classified into
|
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1.
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Defect of growth of tubular
bone or spine or both
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2.
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Abnormalities in amount,
density, and remodeling of bone including mineralization
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| 3. |
Disorder involving disorganized
development of cartilage and fibrous connective tissue
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How would skeletal dysplasia
be diagnosed?
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A detailed history and physical
examination point the likely diagnosis. The full series of skeletal
films is
essential to identify the involved parts of body (skull, spine,
pelvis, limbs), and the affected parts of bones (epiphysis, metaphysis,
diaphysis, combination).
In this case, achondroplasia is most likely because of typical
features, which are described below.
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