Living with achondroplasia – some medical and social aspects

Living with achondroplasia – some medical and social aspects

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Article_Title: Living with achondroplasia – some medical and social aspects
Authors: Simona Dumitra, Sabina Morgovan, Andreea Dupta, Otilia Marginean
Affiliation: ”Vasile Goldis” Western University, Department of Paediatrics, Arad
County Emergency Hospital, Department of Paediatrics, Arad
”Luis Turcanu” Children Hospital, Timisoara
Abstract: Achondroplasia is a rare autosomal dominant genetic disease and the most common form of short-limbed dwarfism. The clinical achondroplastic features are: short stature and limbs, enlarged head with prominent forehead, lordosis and a trident aspect of the hand. The intelligence is usually normal. Because of the complexity of the complications (apnea, motor retardation, hydrocephaly, respiratory disorders, spinal stenosis, spinal cord compression) a child with achondroplasia has to be periodically monitored by a multidisciplinary team, especially in the first years of life. Moreover, the role of the psychological counseling is essential for a child with achondroplasia and his family. Also, a better communication network among different specialists and the support associations is needed, in order to create a professional guidance and a normal environment for those who are living with achondroplasia.
Keywords: achondroplasia, short stature, limb-lengthening, spinal stenosis, multidisciplinary team
References: Simona Dumitra, “Vasile Goldis” Western University, Department of Paediatrics, e-mail: dumitrasimona@yahoo.com
Read_full_article: pdf/23-2013/23-3-2013/SU23-3-2013-Dumitra.pdf
Correspondence: Julliand S, Boulé M, Baujat G, Ramirez A, Couloiner V, Beydon N, Zerah M, di Rocco F, Lemerrer M, Cormier-Daire V, Fauroux B, Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia, Am J Med A. 2012 Aug;158A(8):1987-93.
Horton WA, Hall JG, Hecht JT, Achondroplasia, Lancelet. 2007, Jul 14;370(9582):162-72.
Kim SJ, Balce GC, Agashe MV, Song SH, Song HR, Is bilateral lower limb lengthening appropriate for achondroplasia?: midterm analysis of the complications and quality of life, Clin Orthop Relat Res. 2012 Feb; 470(2):616-21.
Lorget F, Kaci N, Peng J, Benoist-Lasselin C, Mugnierv E, Oppeneer T, Wendt DJ, Bell SM, Bullens, Bunting S, Tsuruda LS, O’Neill CA, Di Rocco F, Munnich A, Legeai-Mallet L, Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia, Am J Hum Genet. 2012 Dec7;91(6):1108-14. doi: 10.1016/j.ajhg.2012.10.014. Epub 2012 Nov 29.
Ozcetin M, Arslan MT, Karapinar B, An achondroplasic case with foramen magnum stenosis, hydrocephaly, cortical atrophy, respiratory failure and sympathetic dysfunction, Iran J Pediatr 2012 Mar;22(1):121-4.
Ros –Pérez P, Regidor FJ, Colino E, Martinez-Pavo C, Barosso E, Heath KE, Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association, BMC Pediatr. 2012 Jun 2012 29;12:88.
Schiedel F, Rodl R, Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years, Disabil Rehabil. 2012;34(12):982-7.
Seino Y, Updated treatment of achondroplasia, Clin Calcium. 2009 Mar;19(3):432-6. doi: CliCa0903432436.
Tanaka H, Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia, Clin Calcium. 2010 Oct;20(10):1490-6.

Read full article
Article Title: Living with achondroplasia – some medical and social aspects
Authors: Simona Dumitra, Sabina Morgovan, Andreea Dupta, Otilia Marginean
Affiliation: ”Vasile Goldis” Western University, Department of Paediatrics, Arad
County Emergency Hospital, Department of Paediatrics, Arad
”Luis Turcanu” Children Hospital, Timisoara
Abstract: Achondroplasia is a rare autosomal dominant genetic disease and the most common form of short-limbed dwarfism. The clinical achondroplastic features are: short stature and limbs, enlarged head with prominent forehead, lordosis and a trident aspect of the hand. The intelligence is usually normal. Because of the complexity of the complications (apnea, motor retardation, hydrocephaly, respiratory disorders, spinal stenosis, spinal cord compression) a child with achondroplasia has to be periodically monitored by a multidisciplinary team, especially in the first years of life. Moreover, the role of the psychological counseling is essential for a child with achondroplasia and his family. Also, a better communication network among different specialists and the support associations is needed, in order to create a professional guidance and a normal environment for those who are living with achondroplasia.
Keywords: achondroplasia, short stature, limb-lengthening, spinal stenosis, multidisciplinary team
References: Simona Dumitra, “Vasile Goldis” Western University, Department of Paediatrics, e-mail: dumitrasimona@yahoo.com
*Correspondence: Julliand S, Boulé M, Baujat G, Ramirez A, Couloiner V, Beydon N, Zerah M, di Rocco F, Lemerrer M, Cormier-Daire V, Fauroux B, Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia, Am J Med A. 2012 Aug;158A(8):1987-93.
Horton WA, Hall JG, Hecht JT, Achondroplasia, Lancelet. 2007, Jul 14;370(9582):162-72.
Kim SJ, Balce GC, Agashe MV, Song SH, Song HR, Is bilateral lower limb lengthening appropriate for achondroplasia?: midterm analysis of the complications and quality of life, Clin Orthop Relat Res. 2012 Feb; 470(2):616-21.
Lorget F, Kaci N, Peng J, Benoist-Lasselin C, Mugnierv E, Oppeneer T, Wendt DJ, Bell SM, Bullens, Bunting S, Tsuruda LS, O’Neill CA, Di Rocco F, Munnich A, Legeai-Mallet L, Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia, Am J Hum Genet. 2012 Dec7;91(6):1108-14. doi: 10.1016/j.ajhg.2012.10.014. Epub 2012 Nov 29.
Ozcetin M, Arslan MT, Karapinar B, An achondroplasic case with foramen magnum stenosis, hydrocephaly, cortical atrophy, respiratory failure and sympathetic dysfunction, Iran J Pediatr 2012 Mar;22(1):121-4.
Ros –Pérez P, Regidor FJ, Colino E, Martinez-Pavo C, Barosso E, Heath KE, Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association, BMC Pediatr. 2012 Jun 2012 29;12:88.
Schiedel F, Rodl R, Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years, Disabil Rehabil. 2012;34(12):982-7.
Seino Y, Updated treatment of achondroplasia, Clin Calcium. 2009 Mar;19(3):432-6. doi: CliCa0903432436.
Tanaka H, Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia, Clin Calcium. 2010 Oct;20(10):1490-6.