FREE ESSAY ON DWARFISM - ACHONDROPLASIA

DWARFISM - ACHONDROPLASIA

Mrs. McCaulskyDwarfism ReportACHONDROPLASIA In medicine, ACHONDROPLASIA is known as being
undersized, orless than 50in. in height. Having short limbs, a normal sized trunk, large
headwith a depressed nasal bridge and small face. This is a result of a disease inthe
thyroid gland. It can also be caused by Down syndrome or absorption, acartilaginous
tissue during the fetal stage. Hypochondroplasia, a mild form ofdwarfism. Spinal
tuberculosis and the deficiency of the pituitary glandsecretions. Treatment with thyroxin
or thyroid extract early in childhoodresults in normal growth and development.
Somatrophin, also known as thehuman growth hormone is secreted by the anterior pituitary.
Respiratory problems start to occur in infants. Symptoms of problems include snoring
andsleeping with neck in a hyperextended condition. The limbs have rhizometicshortening.
The legs are straight in infantry but when a child. He beginswalking they develop a
knock-knee position. When the child continues towalk legs begin to have a bowed-leg look.
Occasionally, these curvatures arefixed. As the child continues to walk the kyphosis
disappears and the backassumes a lordotic posture. If a delay in child's walking occurs,
the spineshould be monitored closely for signs of gibbous formation. In infancy,
hypercephalus can occur. Infants head circumference shouldbe monitored close . Monthly
checks of head circumference must bemonitored. Radiologic studies are indicated if head
circumference raises todisproportionately, or if symptoms of hydrocephalus. Child's
pediatricianshould have a copy of head circumference curves for children
withachondroplasia. Radiologic procedures for dwarfism include head ultrasound,C-T scan,
or MRI of the head. If intervention is necessary, aventriculoperitoneal shunt is placed
relieving the pressure. Infants should alsobe 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 compressingthe brain stem
and spinal cord. Symptoms of narrowing include apnea thecessation of breathing and
cervical myleopathy. C-T scans and MRI scans aredone to examine the size of the
infectious foramen magnum. A neurosurgicalprocedure called a foramen magnum decompression
is executed to alargeforamen and alleviate further symptoms. Adolescents are at risk of
getting lumbosacral spinal stenosis. Thelumber spinal cord or nerve roots become
compressed producing nerosurgicalsymptoms. Initial symptoms including weakness, tingling,
and pain of thelegs. Pain usually alleviated by assuming a squatting position. When
conditionworsens, pain in lower buttocks occurs. Diagnosis made by neurosurgicalprocedure
called a lumber laminectomy. Dwarfism is an autosomal dominant condition. This means a
personwith achondroplasia has a 50% chance of passing it to his children. 75%
ofindividuals with achondroplasia are born to normal size parents. The gene forDwarfism,
fibroblast growth factor receptor 3 (FGFR3) is acquired when oneundersized individual and
a normal sized individual produce a child. Couplesat risk of having a child with 2 copies
of the changed gene. A DNA test isnow also available to detect double homozygosity.WORK
CITEDThe Merck Manual of Medical Information. P 295, Merck & Co, Inc. Whitehouse Station,
NS 1997Hunter, AGW, et. al. Standard weight for height curves in achondroplasia. Am J Med
Genet, 1996, 62:255-261Science Publishing Inc., Disease Volume 7, p
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