Dwarfism Or Anchondroplasia 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 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.

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.