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Achondroplasia in children : ウィキペディア英語版 | Achondroplasia in children Achondroplasia in children is the most common form of dwarfism; it accounts for about 70% of all cases of dwarfism.〔Ednick, Matthew, Brad T. Tinkle, Jungrak Phromchairak, John Egelhoff, Raouf Amin, Narong Simakajornboon. ("Sleep-Related Respiratory Abnormalities and Arousal Pattern in Achondroplasia During Early Infancy." ) ''The Journal of Pediatrics'' 155.4 (2009): 510-515.〕 Achondroplasia falls into the category of “disproportionate dwarfism”. It is linked to a mutation in the fibroblast growth factor receptor-3. More than 250,000 people in the world are diagnosed with achondroplasia. Achondroplasia diagnosis occurs somewhere between one in every 10,000 and one in every 30,000 live births.〔Horton, William A., Judith G. Hall, Jacqueline T. Hecht. ("Achondroplasia." ) The Lancet 370.9582 (2007): 162-172.〕 Some symptoms of achondroplasia are short stature, a long and narrow trunk, shortening of the proximal segments of limbs, large head, mid-face hypoplasia, and joint hyperextension, among others. Achondroplasia is defined by central nervous system defects as well as the prior physical symptoms. Average height for an adult man or woman diagnosed with achondroplasia is about 120 centimeters (47.2 inches), although technically a maximum of 148 centimeters (58.2 inches) is also considered achondroplastic.〔Trotter, Tracy L., Judith G. Hall. ("Health Supervision for Children with Achondroplasia" ) ''Pediatrics''. 116.3 (2005): 771–783〕 Achondroplastic people typically have a long trunk and smaller upper legs and upper arms. Those are of normal intelligence and have the ability to lead independent and productive lives. ==Diagnosis and prevalence== A child may be diagnosed with achondroplasia as early as the fetal stages of pregnancy. Most cases are first identified as early as 26 weeks in the gestational period. 85% of children born with achondroplasia are born of parents who are average height who are not themselves achondroplastic. However, 75% of all cases are the result of ''de novo'', or entirely new, genetic mutations. If both parents are diagnosed with achondroplasia, however, there is a higher chance of life-threatening problems.〔 Achondroplastic births are completely sporadic and the chances of having another child who is also achondroplastic is not more likely than for anyone else - having an achondroplastic child is entirely situational. There are specific ways to raise a child diagnosed with achondroplasia that will be beneficial to their growth and aging. Achondroplastic children, to be given better chances, must be raised in more special care than children who are not diagnosed with achondroplasia.
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