TY - JOUR AU - Mortier, G. R. AU - Cohn, D. H. AU - Cormier-Daire, V. AU - Hall, C. AU - Krakow, D. AU - Mundlos, S. AU - Nishimura, G. AU - Robertson, S. AU - Sangiorgi, L. AU - Savarirayan, R. AU - Sillence, D. AU - Superti-Furga, A. AU - Unger, S. AU - Warman, M. L. PY - 2019 DA - 2019// TI - Nosology and classification of genetic skeletal disorders: 2019revision JO - Am J Med Genet A VL - 179 UR - https://doi.org/10.1002/ajmg.a.61366 DO - 10.1002/ajmg.a.61366 ID - Mortier2019 ER - TY - JOUR AU - Savarirayan, R. AU - Rimoin, D. L. PY - 2004 DA - 2004// TI - Skeletal dysplasias JO - Adv Pediatr VL - 51 ID - Savarirayan2004 ER - TY - STD TI - Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK, Skeletal Dysplasia Management Consortium. Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genet Med 2019:21:2070–80. ID - ref3 ER - TY - STD TI - White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC, Skeletal Dysplasia Management Consortium. Best practices in the peri-operative management of patients with skeletal dysplasia. Am J Med Genet 2017;173:2584–2595. ID - ref4 ER - TY - JOUR AU - Afsharpaiman, S. AU - Saburi, A. AU - Waters, K. A. PY - 2013 DA - 2013// TI - Respiratory difficulties and breathing disorders in achondroplasia JO - Paediatr Respir Rev VL - 14 ID - Afsharpaiman2013 ER - TY - JOUR AU - Berger, K. I. AU - Fagondes, S. C. AU - Giugliani, R. AU - Hardy, K. A. AU - Lee, K. S. AU - McArdle, C. AU - Scarpa, M. AU - Tobin, M. J. AU - Ward, S. A. AU - Rapoport, D. M. PY - 2013 DA - 2013// TI - Respiratory and sleep disorders in mucopolysaccharidosis JO - J Inherit Metab Dis VL - 36 UR - https://doi.org/10.1007/s10545-012-9555-1 DO - 10.1007/s10545-012-9555-1 ID - Berger2013 ER - TY - STD TI - Marcus CL, Brooks LJ, Draper KA, Gozal D, Halbower AC, Jones J, Schechter MS, Sheldon SH, Spruyt K, Ward SD, Lehmann C, Shiffman RN; American Academy of Pediatrics. Pediatrics. Diagnosis and management of childhood obstructive sleep apnea syndrome. 2012 Sep; 130(3):576–84. ID - ref7 ER - TY - JOUR AU - Simonds, A. K. PY - 2013 DA - 2013// TI - Chronic hypoventilation and its management JO - Eur Respir Rev VL - 22 UR - https://doi.org/10.1183/09059180.00003113 DO - 10.1183/09059180.00003113 ID - Simonds2013 ER - TY - JOUR AU - Katz, S. L. AU - Monsour, A. AU - Barrowman, N. AU - Hoey, L. AU - Bromwich, M. AU - Momoli, F. AU - Chan, T. AU - Goldberg, R. AU - Patel, A. AU - Yin, L. AU - Murto, K. PY - 2020 DA - 2020// TI - Predictors of postoperative respiratory compromise in children undergoing adenotonsillectomy JO - J Clin Sleep Med VL - 16 UR - https://doi.org/10.5664/jcsm.8118 DO - 10.5664/jcsm.8118 ID - Katz2020 ER - TY - STD TI - Kapur VK, Aukley DH, Chowdhuri S, Kuhlmann DC, Mehra R, Ramar K, Harrod GC. Clinical Practice Guideline for Diagnostic Testing for Adult Obstructive Sleep Apnea: An American Academy of Sleep Medicine Clinical Practice Guideline. J Clin Sleep Med. 2017 13(3). ID - ref10 ER - TY - JOUR AU - Kirk, V. AU - Baughn, J. AU - D'Andrea, L. AU - Friedman, N. AU - Galion, A. AU - Garetz, S. AU - Hassan, F. AU - Wrede, J. AU - Harrod, C. G. PY - 2017 DA - 2017// TI - Malhotra RK American academy of sleep medicine position paper for the use of a home sleeptho apnea test for the diagnosis of OSA in children JO - J Clin Sleep Med VL - 13 UR - https://doi.org/10.5664/jcsm.6772 DO - 10.5664/jcsm.6772 ID - Kirk2017 ER - TY - STD TI - Pauli RM. Achondroplasia: a comprehensive clinical review. 2019. Orphanet J Rare Dis. 14(1):1 ID - ref12 ER - TY - STD TI - White KK, Parnell SE, Kifle Y, Blackledge M, Bompadre V. Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? 2016. Am J Med Genet A. 170A(1):32–41 ID - ref13 ER - TY - STD TI - Tasker RC, Dundas I, Laverty A, Fletcher M, Lane R, Stocks J. Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. 1998. Arch Dis Child 79(2):99–108 ID - ref14 ER - TY - STD TI - Centers for Disease Control and Prevention (CDC). Identifying infants with hearing loss - United States, 1999–2007. MMWR Morb Mortal Wkly Rep. 59(8): 220–223. March 5, 2010. ID - ref15 ER - TY - JOUR AU - Boulet, S. L. AU - Boyle, C. A. AU - Schieve, L. A. PY - 2009 DA - 2009// TI - Health Care Use and Health and Functional Impact of Developmental Disabilities Among US Children, 1997–2005 JO - Arch Pediatr Adolesc Med VL - 163 UR - https://doi.org/10.1001/archpediatrics.2008.506 DO - 10.1001/archpediatrics.2008.506 ID - Boulet2009 ER - TY - STD TI - Lin FR, Niparko JK, Ferrucci L. Hearing loss prevalence in the United States. [Letter] Arch Intern Med. 2011 Nov 14; 171(20): 1851–1852. ID - ref17 ER - TY - STD TI - Blackwell DL, Lucas JW, Clarke TC. Summary health statistics for U.S. adults: National Health Interview Survey, 2012. National Center for Health Statistics. Vital Health Stat 10 2014 Feb;(260):1–161. ID - ref18 ER - TY - STD TI - World Health Organization. Childhood hearing loss: strategies for prevention and care. World Health Organization; 2016. https://apps.who.int/iris/handle/10665/204632 UR - https://apps.who.int/iris/handle/10665/204632 ID - ref19 ER - TY - JOUR AU - Glass, L. AU - Shapiro, I. AU - Hodge, S. E. AU - Bergstrom, L. AU - Rimoin, D. L. PY - 1981 DA - 1981// TI - Audiological findings of patients with achondroplasia JO - Int J Pediatr Otorhinolaryngol VL - 3 UR - https://doi.org/10.1016/0165-5876(81)90028-8 DO - 10.1016/0165-5876(81)90028-8 ID - Glass1981 ER - TY - JOUR AU - Collins, W. O. AU - Choi, S. S. PY - 2007 DA - 2007// TI - Otolaryngologic manifestations of achondroplasia JO - Arch Otolaryngol Head Neck Surg VL - 133 UR - https://doi.org/10.1001/archotol.133.3.237 DO - 10.1001/archotol.133.3.237 ID - Collins2007 ER - TY - STD TI - Bianchi. ENT and mucopolysaccharidoses. Italian Journal of Pediatrics. 2018. 44 (Suppl 2): 127. ID - ref22 ER - TY - JOUR AU - Vargas-Gamarra, M. F. AU - Paula-Vernetta, C. AU - Miñana, V. PY - 2017 DA - 2017// TI - Audiological findings in children with mucopolysaccharidoses type I-IV JO - Acta Otorrinolaringologica Española VL - 68 UR - https://doi.org/10.1016/j.otorri.2016.11.004 DO - 10.1016/j.otorri.2016.11.004 ID - Vargas-Gamarra2017 ER - TY - STD TI - da Silveira M, Buriti A, Martins A, Gil D, Frasson M. Audiometric evaluation in individuals with mucopolysaccharidosis. Clinics 2018. Sao Paulo (BR) vol.73 (e523). ID - ref24 ER - TY - JOUR AU - Terhal, P. A. AU - Nievelstein, R. J. A. J. AU - Verver, E. J. J. AU - Topsakal, V. AU - Dommelen, P. AU - Hoornaert, K. PY - 2015 DA - 2015// TI - A Study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype JO - Am J Med Genet Part A VL - 167A UR - https://doi.org/10.1002/ajmg.a.36922 DO - 10.1002/ajmg.a.36922 ID - Terhal2015 ER - TY - STD TI - Candamourty R, Venkatachalam S, Yuvaraj V, Kumar GS. Cleidocranial dysplasia with hearing loss. J Nat Sci Biol Med. 2013.Jan-Jun 4(1): 245–9. ID - ref26 ER - TY - JOUR AU - Segal, N. AU - Puterman, M. PY - 2007 DA - 2007// TI - Cleidocranial dysplasia: review with an emphasis on otological and audiological manifestations JO - Int J Pediatr Otorhinolaryngol VL - 71 UR - https://doi.org/10.1016/j.ijporl.2006.11.021 DO - 10.1016/j.ijporl.2006.11.021 ID - Segal2007 ER - TY - STD TI - Murdin L, Sirimana T, Hartley BE, Holder SE. Chondrodysplasia punctata: case report and review of audiological and ENT features. J Laryngol Otol. 120(3): 233–6. ID - ref28 ER - TY - STD TI - de Sousa Marques LH, Martins DV, Juares GL, Tadeu F, Lorenzetti M, da Costa Monsanto R. Otologic manifestations of Larsen syndrome. Int J of Pediatr Otorhinolaryngol. 2017 Oct; 101:(223–229). ID - ref29 ER - TY - JOUR AU - Hunter, A. G. AU - Bankier, A. AU - Rogers, J. G. PY - 1998 DA - 1998// TI - Medical complications of achondroplasia:a multicentre patient review JO - J Med Genet VL - 35 UR - https://doi.org/10.1136/jmg.35.9.705 DO - 10.1136/jmg.35.9.705 ID - Hunter1998 ER - TY - JOUR AU - Machol, K. AU - Hadley, T. D. AU - Schmidt, J. AU - Cuthbertson, D. AU - Traboulsi, H. AU - Silva, R. S. AU - Citron, C. AU - Khan, S. AU - Citron, K. AU - Carter, E. AU - Brookler, K. AU - Shapiro, J. R. AU - Steiner, R. D. AU - Byers, P. H. AU - Glorieux, F. H. AU - Durigova, M. AU - Smith, P. AU - Bober, M. B. AU - Sutton, V. R. AU - Lee, B. J. AU - Raggio, C. PY - 2020 DA - 2020// TI - Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study JO - Am J Med Genet Part A VL - 182A UR - https://doi.org/10.1002/ajmg.a.61464 DO - 10.1002/ajmg.a.61464 ID - Machol2020 ER - TY - JOUR AU - Tunkel, D. E. AU - Alade, Y. AU - Kerbavez, R. AU - Smith, B. AU - Rose-Hardison, D. AU - Hoover-Fong, J. PY - 2012 DA - 2012// TI - Hearing loss in skeletal dysplasia patients JO - Am J Med Genet Part A VL - 158A UR - https://doi.org/10.1002/ajmg.a.35373 DO - 10.1002/ajmg.a.35373 ID - Tunkel2012 ER - TY - JOUR AU - Tunkel, D. E. AU - Kerbavez, R. AU - Smith, B. AU - Rose-Hardison, D. AU - Alade, Y. AU - Hoover-Fong, J. PY - 2011 DA - 2011// TI - Hearing screening in children with skeletal dysplasia JO - Arch Otolaryngol Head Neck Surg VL - 137 UR - https://doi.org/10.1001/archoto.2011.206 DO - 10.1001/archoto.2011.206 ID - Tunkel2011 ER - TY - JOUR AU - Lyford-Pike, S. AU - Hoover-Fong, J. AU - Tunkel, D. E. PY - 2012 DA - 2012// TI - Otolaryngologic manifestationsof skeletal dysplasias in children JO - Otolaryngol Clin N Am VL - 45 UR - https://doi.org/10.1016/j.otc.2012.03.002 DO - 10.1016/j.otc.2012.03.002 ID - Lyford-Pike2012 ER - TY - STD TI - CDC EHDI Hearing Screening & Follow-up Survey (HSFS) 2017. www.cdc.gov/ncbddd/hearingloss/ehdi-data.html UR - http://www.cdc.gov/ncbddd/hearingloss/ehdi-data.html ID - ref35 ER - TY - JOUR AU - Neumann, K. AU - Chadha, S. AU - Tavartkiladze, G. AU - Bu, X. AU - White, K. R. PY - 2019 DA - 2019// TI - Newborn and infant hearing screening facing globally growing numbers of people suffering from disabling hearing loss JO - Int J Neonatal Screen VL - 5 UR - https://doi.org/10.3390/ijns5010007 DO - 10.3390/ijns5010007 ID - Neumann2019 ER - TY - JOUR AU - Harlor, A. D. AU - Bower, C. PY - 2009 DA - 2009// TI - Hearing assessment in infants and children: recommendations beyond neonatal screening JO - Pediatrics VL - 124 UR - https://doi.org/10.1542/peds.2009-1997 DO - 10.1542/peds.2009-1997 ID - Harlor2009 ER - TY - JOUR PY - 2007 DA - 2007// TI - Joint Committee on Infant Hearing JO - Pediatrics VL - 120 UR - https://doi.org/10.1542/peds.2007-2333 DO - 10.1542/peds.2007-2333 ID - ref38 ER - TY - STD TI - Rosenfeld RM, Shin JJ, Schwartz SR, Coggins R, Gagnon L, Hackel JM, et al. Clinical practice guideline: Otitis media with effusion (update). Otolaryngol Head Neck Surg, 2016; 154(1suppl): S1–41. ID - ref39 ER - TY - STD TI - Rosenfeld RM, Schwartz SR, Pynnonen MA, Tunkel DE, Hussey HM, Fichera JS, et al. Clinical practice guideline: tympanostomy tubes in children. Otolaryngol Head Neck Surg. 2013; 149(1suppl): S1–35. ID - ref40 ER - TY - JOUR AU - Halvorson, D. J. AU - Porubsky, E. S. PY - 1997 DA - 1997// TI - Asymptomatic high jugular bulb in the pediatric population JO - Am J Otolaryngology VL - 18 UR - https://doi.org/10.1016/S0196-0709(97)90052-1 DO - 10.1016/S0196-0709(97)90052-1 ID - Halvorson1997 ER - TY - JOUR AU - Pauli, R. M. AU - Modaff, P. PY - 1999 DA - 1999// TI - Jugular bulb dehiscence in achondroplasia JO - Int J Pediatr Otorhinolaryngol VL - 48 UR - https://doi.org/10.1016/S0165-5876(99)00033-6 DO - 10.1016/S0165-5876(99)00033-6 ID - Pauli1999 ER - TY - JOUR AU - Visvanathan, V. AU - Morrissey, M. S. PY - 2015 DA - 2015// TI - Anatomical variations of the temporal bone on high-resolution computed tomography imaging: how common are they? JO - J Laryngol Otol VL - 129 UR - https://doi.org/10.1017/S0022215115001115 DO - 10.1017/S0022215115001115 ID - Visvanathan2015 ER - TY - JOUR AU - Bosemani, T. AU - Orman, G. AU - Hergan, B. AU - Carson, K. A. AU - Huisman, T. AU - Poretti, A. PY - 2015 DA - 2015// TI - Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement JO - Child’s Nervous Syst VL - 31 UR - https://doi.org/10.1007/s00381-014-2559-4 DO - 10.1007/s00381-014-2559-4 ID - Bosemani2015 ER - TY - JOUR AU - Lieberthal, A. S. AU - Carroll, A. E. AU - ChonmaitreeT, G. T. G. AU - Hoberman, A. AU - Jackson, M. A. AU - Joffe, M. D. AU - Miller, D. T. AU - Rosenfeld, R. M. AU - Sevilla, X. D. AU - Schwartz, R. H. AU - Thomas, P. A. AU - Tunkel, D. E. PY - 2013 DA - 2013// TI - Diagnosis and management of acute otitis media JO - Pediatrics VL - 131 UR - https://doi.org/10.1542/peds.2012-3488 DO - 10.1542/peds.2012-3488 ID - Lieberthal2013 ER - TY - JOUR AU - Rettig, E. AU - Tunkel, D. E. PY - 2014 DA - 2014// TI - Contemporary concepts in the management of acute otitis media in children JO - Otolaryngol Clin N Am VL - 47 UR - https://doi.org/10.1016/j.otc.2014.06.006 DO - 10.1016/j.otc.2014.06.006 ID - Rettig2014 ER - TY - JOUR AU - Tenconi, R. AU - Khirani, S. AU - Amaddeo, A. AU - Michot, C. AU - Naujat, G. AU - Couloigner, V. AU - Sactis, L. AU - James, S. AU - Zerah, M. AU - Cormier-Daire, V. AU - Faurox, B. PY - 2017 DA - 2017// TI - Sleep-disordered breathing and its management in children with achondroplasia JO - Am J Med Genet Part A VL - 173A UR - https://doi.org/10.1002/ajmg.a.38130 DO - 10.1002/ajmg.a.38130 ID - Tenconi2017 ER - TY - JOUR AU - Moraleda-Cibrián, M. AU - Edwards, S. P. AU - Kasten, S. J. AU - Buchman, S. R. AU - Berger, M. AU - O'Brien, L. M. PY - 2015 DA - 2015// TI - Obstructive sleep apnea pretreatment and posttreatment in symptomatic children with congenital craniofacial malformations JO - J Clin Sleep Med VL - 11 UR - https://doi.org/10.5664/jcsm.4360 DO - 10.5664/jcsm.4360 ID - Moraleda-Cibrián2015 ER - TY - JOUR AU - Pal, A. R. AU - Langereis, E. J. AU - Saif, M. A. AU - Mercer, J. AU - Church, H. J. AU - Tylee, K. L. AU - Wynn, R. F. AU - Wijburg, F. A. AU - Jones, S. A. AU - Bruce, I. A. AU - Bigger, B. W. PY - 2015 DA - 2015// TI - Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long-term clinical outcomes JO - Orphanet J Rare Dis VL - 10 UR - https://doi.org/10.1186/s13023-015-0255-4 DO - 10.1186/s13023-015-0255-4 ID - Pal2015 ER - TY - JOUR AU - Sisk, E. A. AU - Heatley, D. G. AU - Borowski, B. J. AU - Leverson, G. E. AU - Pauli, R. M. PY - 1999 DA - 1999// TI - Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations JO - Otolaryngol Head Neck Surg VL - 120 UR - https://doi.org/10.1016/S0194-5998(99)70414-6 DO - 10.1016/S0194-5998(99)70414-6 ID - Sisk1999 ER - TY - JOUR AU - Patil, S. P. AU - Ayappa, I. A. AU - Caples, S. M. AU - Kimoff, R. J. AU - Patel, S. R. AU - Harrod, C. G. PY - 2019 DA - 2019// TI - Treatment of adult obstructive sleep apnea with positive airway pressure: An American Academy of Sleep Medicine Clinical Practice Guidelines JO - J Clin Sleep Med VL - 15 UR - https://doi.org/10.5664/jcsm.7640 DO - 10.5664/jcsm.7640 ID - Patil2019 ER - TY - JOUR AU - Peppard, P. E. AU - Young, T. AU - Palta, M. AU - Dempsey, J. AU - Skatrud, J. PY - 2000 DA - 2000// TI - Longitudinal study of moderate weight change and sleep-disordered breathing JO - JAMA VL - 284 UR - https://doi.org/10.1001/jama.284.23.3015 DO - 10.1001/jama.284.23.3015 ID - Peppard2000 ER - TY - JOUR AU - Anderson, I. G. AU - Holm, J. -. C. AU - Homoe, P. PY - 2019 DA - 2019// TI - Impact of weight-loss management on children and adolescents with obesity and obstructive sleep apnea JO - Int J Ped Oto VL - 123 UR - https://doi.org/10.1016/j.ijporl.2019.04.031 DO - 10.1016/j.ijporl.2019.04.031 ID - Anderson2019 ER - TY - STD TI - Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC. Clinical Practice Guideline: Tonsillectomy in Children (Update). Otolaryngol Head Neck Surg. 2019 Feb;160(1_suppl):S1-S42. ID - ref54 ER - TY - STD TI - Barat-Houari M, Dumont B, Fabre A, Them Ft, Alembik Y, Alessandri JL, et al. The expanding spectrum of COL2A1 gene variants in 136 patients with a skeletal dysplasia phenotype. Eur J Hum Genet. 2016;24:992–1000. ID - ref55 ER - TY - JOUR AU - Fraser, G. R. AU - Friedmann, A. I. AU - Maroteaux, P. AU - Glen- Bott, A. M. AU - Mittwoch, U. PY - 1969 DA - 1969// TI - Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasia among children with severe visual handicaps JO - Arch Dis Child VL - 44 UR - https://doi.org/10.1136/adc.44.236.490 DO - 10.1136/adc.44.236.490 ID - Fraser1969 ER - TY - JOUR AU - Spranger, J. W. AU - Wiedemann, H. R. PY - 1966 DA - 1966// TI - Dysplasia spondyloepiphysaria congenita JO - Helv Paediatr Acta VL - 21 ID - Spranger1966 ER - TY - JOUR AU - Spranger, J. W. AU - Langer, L. O. PY - 1970 DA - 1970// TI - Spondyloepiphyseal dysplasia congenita JO - Radiology VL - 94 UR - https://doi.org/10.1148/94.2.313 DO - 10.1148/94.2.313 ID - Spranger1970 ER - TY - JOUR AU - Melkoniemi, M. AU - Brunner, H. G. AU - Manouvrier, S. PY - 2000 DA - 2000// TI - Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene JO - Am J Hum Genet VL - 66 UR - https://doi.org/10.1086/302750 DO - 10.1086/302750 ID - Melkoniemi2000 ER - TY - JOUR AU - Tomoe, K. K. AU - Mitsukawa, N. AU - Morishita, T. AU - Akita, S. AU - Kubota, Y. AU - Staoh, K. PY - 2017 DA - 2017// TI - Clinical experience of treatment of facil malformations in oto-palato-digital syndrome: a familial patient JO - J Craniofac Surg VL - 28 UR - https://doi.org/10.1097/SCS.0000000000003509 DO - 10.1097/SCS.0000000000003509 ID - Tomoe2017 ER - TY - JOUR AU - Batra, P. AU - Ryan, F. S. AU - Witherow, H. AU - Calvert, M. L. PY - 2006 DA - 2006// JO - Int J of Paediatr Dent VL - 16 UR - https://doi.org/10.1111/j.1365-263X.2006.00714.x DO - 10.1111/j.1365-263X.2006.00714.x ID - Batra2006 ER - TY - JOUR AU - Rossi, A. AU - Superti-Furga, A. PY - 2001 DA - 2001// TI - Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance JO - Hum Mutat VL - 17 UR - https://doi.org/10.1002/humu.1 DO - 10.1002/humu.1 ID - Rossi2001 ER - TY - STD TI - Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML.A compound heterozygote SLC26A2 mutation resulting in Robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphyseal dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.Am J Med Genet Part A 2013. 161A:2088–2094. ID - ref63 ER - TY - JOUR AU - Kausar, M. AU - Mäkitie, R. E. AU - Toiviainen-Salo, S. AU - Ignatius, J. AU - Anees, M. AU - Mäkitie, O. PY - 2019 DA - 2019// TI - Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes JO - Eur J Med Genet VL - 62 UR - https://doi.org/10.1016/j.ejmg.2018.11.007 DO - 10.1016/j.ejmg.2018.11.007 ID - Kausar2019 ER - TY - JOUR AU - Krakow, D. PY - 2015 DA - 2015// TI - Skeletal dysplasias JO - Clin Perinatol VL - 42 UR - https://doi.org/10.1016/j.clp.2015.03.003 DO - 10.1016/j.clp.2015.03.003 ID - Krakow2015 ER - TY - JOUR AU - Yepes, J. F. PY - 2017 DA - 2017// TI - Dental manifestations of paediatric bone disorders JO - Curr Osteoporosis Reports VL - 15 UR - https://doi.org/10.1007/s11914-017-0409-5 DO - 10.1007/s11914-017-0409-5 ID - Yepes2017 ER - TY - STD TI - Foster BL, Ramnitz MS, Gafni RI, Burke AB, Boyce Am, Lee JS, Wright JT, Akintoye SO, Somerman MJ, Collins MT. Rare bone diseases and their dental, oral and craniofacial manifestations. J Dent Res. 2014. 93(7Suppl):7S-19S ID - ref67 ER - TY - JOUR AU - Melkoniemi, M. AU - Koillinen, H. AU - Warman, M. L. AU - Pihlajamaa, T. AU - Kaariainen, H. AU - Rautio, J. PY - 2003 DA - 2003// TI - Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia JO - Eur J Hum Genet VL - 11 UR - https://doi.org/10.1038/sj.ejhg.5200950 DO - 10.1038/sj.ejhg.5200950 ID - Melkoniemi2003 ER - TY - JOUR AU - Irving, M. D. AU - Chitty, L. S. AU - Mansour, S. AU - Hall, C. M. PY - 2008 DA - 2008// TI - Chondrodysplasia punctata: a clinical diagnostic and radiological review JO - Clin Dysmorphol VL - 17 UR - https://doi.org/10.1097/MCD.0b013e3282fdcc70 DO - 10.1097/MCD.0b013e3282fdcc70 ID - Irving2008 ER - TY - JOUR AU - Cielo, C. M. AU - Montalva, F. M. AU - Taylor, J. A. PY - 2016 DA - 2016// TI - Craniofacial disorders associated with airway obstruction in the neonate JO - Seminars in Fetal and Neonatal Medicine VL - 21 UR - https://doi.org/10.1016/j.siny.2016.03.001 DO - 10.1016/j.siny.2016.03.001 ID - Cielo2016 ER - TY - JOUR AU - Vieira Prado, H. AU - Ruy Carneyro, N. C. AU - Franca Perazzo, M. AU - Abreu, M. H. AU - Martins, C. C. AU - Borges-Oliveira, A. C. PY - 2019 DA - 2019// TI - Assessing a possible vulnerability to dental caries in individuals with rare genetic diseases that affect the skeletal development JO - Orphanet J Rare Dis VL - 14 UR - https://doi.org/10.1186/s13023-019-1114-5 DO - 10.1186/s13023-019-1114-5 ID - Vieira Prado2019 ER - TY - JOUR AU - Kreiborg, S. AU - Jensen, B. L. PY - 2018 DA - 2018// TI - Tooth formation and eruption–lessons learnt from cleidocranial dysplasia JO - Eur J Oral Sci VL - 126 UR - https://doi.org/10.1111/eos.12418 DO - 10.1111/eos.12418 ID - Kreiborg2018 ER - TY - JOUR AU - Bailleul-Forestier, I. AU - Berdal, A. AU - Vinvkier, F. AU - Ravel, T. AU - Fryns, J. P. AU - Verloes, A. PY - 2008 DA - 2008// TI - The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement JO - Eur J Med Genet. VL - 51 ID - Bailleul-Forestier2008 ER - TY - JOUR AU - Pineau, M. AU - Farrow, E. AU - Nicot, R. AU - Ferri, J. PY - 2018 DA - 2018// TI - Achondroplasia: Orocraniofacial features and orthodontic-surgical management guidelines proposal JO - J Craniofac Surg VL - 29 UR - https://doi.org/10.1097/SCS.0000000000004819 DO - 10.1097/SCS.0000000000004819 ID - Pineau2018 ER - TY - JOUR AU - Seow, W. K. PY - 2003 DA - 2003// TI - Diagnosis and management of unusual dental abscesses in children JO - Aust Dent J VL - 48 UR - https://doi.org/10.1111/j.1834-7819.2003.tb00026.x DO - 10.1111/j.1834-7819.2003.tb00026.x ID - Seow2003 ER - TY - JOUR AU - Rosini, S. AU - Rosini, S. AU - Bertoldi, I. AU - Frediani, B. PY - 2017 DA - 2017// TI - Understanding bisphosphonates and osteonecrosis of the jaw JO - Eur Rev Med Pharmacol Sci VL - 19 ID - Rosini2017 ER - TY - JOUR AU - Leung, A. K. AU - Cho, H. PY - 1999 DA - 1999// TI - Diagnosis of stridor in children JO - Am Fam Physician VL - 60 ID - Leung1999 ER - TY - JOUR AU - Dessofy, K. AU - Modaff, P. PY - 2014 DA - 2014// TI - Pauli RM Airway malacia in children with achondroplasia JO - Am J Med Gen VL - 164A UR - https://doi.org/10.1002/ajmg.a.36303 DO - 10.1002/ajmg.a.36303 ID - Dessofy2014 ER - TY - JOUR AU - Arn, P. AU - Bruce, I. A. AU - Wraith, J. E. AU - Travers, H. AU - Fallet, S. PY - 2015 DA - 2015// TI - Airway-Related Symptoms and Surgeries in Patients with Mucopolysaccharidosis I JO - Ann of Otol, Rhinol Larygngol VL - 124 UR - https://doi.org/10.1177/0003489414550154 DO - 10.1177/0003489414550154 ID - Arn2015 ER - TY - JOUR AU - Gonuldas, B. AU - Yilmaz, T. AU - Sivri, H. S. AU - Gucer, K. S. AU - Kilink, K. AU - Genc, G. A. AU - Kilic, M. AU - Coskun, T. PY - 2014 DA - 2014// TI - Mucopolysaccharidosis: Otolarygologic findings, obstructive sleep apnea and accumulation of glycosaminoglycans in lymphatic tissue of the upper airway JO - Int J Pediatr Otorhinolaryngol VL - 78 UR - https://doi.org/10.1016/j.ijporl.2014.03.021 DO - 10.1016/j.ijporl.2014.03.021 ID - Gonuldas2014 ER - TY - JOUR AU - Cushing, S. L. AU - Swanson, R. L. AU - Sie, K. C. PY - 2011 DA - 2011// TI - Prevention of auricular deformity in children with diastrophic dysplasia JO - Int J Pediatr Otorhinolaryngol VL - 75 UR - https://doi.org/10.1016/j.ijporl.2011.02.003 DO - 10.1016/j.ijporl.2011.02.003 ID - Cushing2011 ER -