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Dwarfism Essay, Research Paper

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Mrs. McCaulsky

Dwarfism Report

ACHONDROPLASIA

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

fixed.

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.

WORK CITED

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

Microsoft Corporation. All Rights Reserved


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