Dwarfism

– Achondroplasia Essay, Research Paper

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 i

s 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 73?Dwarfism?,?Microsoft (R) Encarta (R) 98 Encyclopedia (c) 1993-1997 Microsoft Corporation. All Rights Reserved