Dwarfism Essay, Research Paper
In medicine, ACHONDROPLASIA is known as being undersized, or
less than 50in. in height. Having short limbs, a normal sized trunk, large head
with a depressed nasal bridge and small face. This is a result of a disease in
the thyroid gland. It can also be caused by Down syndrome or absorption, a
cartilaginous tissue during the fetal stage. Hypochondroplasia, a mild form of
dwarfism. Spinal tuberculosis and the deficiency of the pituitary gland
secretions. Treatment with thyroxin or thyroid extract early in childhood
results in normal growth and development. Somatrophin, also known as the
human growth hormone is secreted by the anterior pituitary. Respiratory
problems start to occur in infants. Symptoms of problems include snoring and
sleeping with neck in a hyperextended condition. The limbs have rhizometic
shortening. The legs are straight in infantry but when a child. He begins
walking they develop a knock-knee position. When the child continues to
walk legs begin to have a bowed-leg look. Occasionally, these curvatures are
As the child continues to walk the kyphosis disappears and the back
assumes a lordotic posture. If a delay in child?s walking occurs, the spine
should be monitored closely for signs of gibbous formation.
In infancy, hypercephalus can occur. Infants head circumference should
be monitored close . Monthly checks of head circumference must be
monitored. Radiologic studies are indicated if head circumference raises to
disproportionately, or if symptoms of hydrocephalus. Child?s pediatrician
should have a copy of head circumference curves for children with
achondroplasia. Radiologic procedures for dwarfism include head ultrasound,
C-T scan, or MRI of the head. If intervention is necessary, a
ventriculoperitoneal shunt is placed relieving the pressure. Infants should also
be monitored for foramen magnum compression. It is the opening at the base
of the skull in which the brain stem and cervical spinal cord exit.
When you have achondroplasia the foramen magnum is compressing
the brain stem and spinal cord. Symptoms of narrowing include apnea the
cessation of breathing and cervical myleopathy. C-T scans and MRI scans are
done to examine the size of the infectious foramen magnum. A neurosurgical
procedure called a foramen magnum decompression is executed to alarge
foramen and alleviate further symptoms.
Adolescents are at risk of getting lumbosacral spinal stenosis. The
lumber spinal cord or nerve roots become compressed producing nerosurgical
symptoms. Initial symptoms including weakness, tingling, and pain of the
legs. Pain usually alleviated by assuming a squatting position. When condition
worsens, pain in lower buttocks occurs. Diagnosis made by neurosurgical
procedure called a lumber laminectomy.
Dwarfism is an autosomal dominant condition. This means a person
with achondroplasia has a 50% chance of passing it to his children. 75% of
individuals with achondroplasia are born to normal size parents. The gene for
Dwarfism, fibroblast growth factor receptor 3 (FGFR3) is acquired when one
undersized individual and a normal sized individual produce a child. Couples
at risk of having a child with 2 copies of the changed gene. A DNA test is
now also available to detect double homozygosity.
The Merck Manual of Medical Information. P 295, Merck & Co, Inc.
Whitehouse Station, NS 1997
Hunter, AGW, et. al. Standard weight for height curves in achondroplasia.
Am J Med Genet, 1996, 62:255-261
Science Publishing Inc., Disease Volume 7, p 73
?Dwarfism?,?Microsoft (R) Encarta (R) 98 Encyclopedia (c) 1993-1997
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