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In medicine, ACHONDROPLASIA is known as being undersized, or less than 50 in. 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 thyroxine 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 hyper extended condition. The limbs have rhizome tic 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 lord otic 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 myopathy. 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 aware foramen and alleviate further symptoms.
Adolescents are at risk of getting lumbo sacral spinal stenosis. The lumber spinal cord or nerve roots become compressed producing nero surgical 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 (FGFR 3) 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.
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