18. gatbonton dwarfism
TRANSCRIPT
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DWARFISM(ACHONDROPLASIA)
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ACHONDROPLASIA
Literally means “without cartilage formation”
Most common type of dwarfism.
Caused by mutation of gene for (FGFR3)
Average height is about 4 ft.
Short arms and legs.
Large head.
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Achondroplasia is one of a group of disorders
called chondrodystrophies or
osteochondrodysplasias.
May be inherited as an autosomal dominant trait,
which means that if a child gets the defective gene
from one parent, the child will have the disorder.
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SIGNS AND SYMPTOMS
Abnormal hand appearance with persistent space
between the long and ring fingers
Bowed legs
Decreased muscle tone
Disproportionately large head-to-body size
difference
Prominent forehead
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Shortened arms and legs (especially the upper arm
and thigh)
Short stature (significantly below the average
height for a person of the same age and sex)
Spinal stenosis
Spine curvatures called kyphosis and lordosis
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DENTAL CORRELATION
The administration of thyroid hormone is known to
accelerate dental development and eruption
His dental development is still extremely retarded
and is following a disturbed pattern in which
various stages of dental development are present
simultaneously
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SINGLE GENE
It is considered as single gene because only the
Fibroblast Growth Factor Receptor Gene 3 is
affected which is also important in the maintenance
of bone and brain tissues
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