Pauli RM (2019) Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis 14(1):1
Article PubMed PubMed Central Google Scholar
Hoover-Fong J et al (2020) Health Supervision for people with Achondroplasia. Pediatrics, 145(6)
Legare JM et al (1993) Achondroplasia, in GeneReviews(®), M.P. Adam, Editors. University of Washington, Seattle Copyright © 1993–2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.: Seattle (WA)
Savarirayan R et al (2022) International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nat Reviews Endocrinol 18(3):173–189
Cormier-Daire V et al (2021) The first European consensus on principles of management for achondroplasia. Orphanet J Rare Dis 16(1):333
Article PubMed PubMed Central Google Scholar
Hashmi SS et al (2018) Multicenter study of mortality in achondroplasia. Am J Med Genet A 176(11):2359–2364
Sanders VR, Sheldon SH, Charrow J (2019) Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine? Genet Med 21(2):459–463
Pauli RM et al (1995) Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 56(3):732–744
CAS PubMed PubMed Central Google Scholar
Tasker RC et al (1998) Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Arch Dis Child 79(2):99–108
Article CAS PubMed PubMed Central Google Scholar
White KK et al (2016) Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? Am J Med Genet A 170a(1):32–41
Calandrelli R et al (2022) Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study. Childs Nerv Syst 38(6):1147–1154
Cocca A et al (2020) Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia. Br J Neurosurg: p. 1–4
Tenconi R et al (2017) Sleep-disordered breathing and its management in children with achondroplasia. Am J Med Genet A 173(4):868–878
Julliand S et al (2012) Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. Am J Med Genet A 158a(8):1987–1993
Stefanovski D et al (2022) Respiratory indices during sleep in healthy infants: a prospective longitudinal study and meta-analysis. Sleep Med 99:49–57
Article PubMed PubMed Central Google Scholar
Hoover-Fong JE et al (2021) Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. Genet Med 23(8):1498–1505
Article PubMed PubMed Central Google Scholar
Iber C et al (2007) The new sleep scoring manual–the evidence behind the rules. J Clin Sleep Med 3(02):107–107
White KK et al (2016) Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. Am J Med Genet A 170a(1):42–51
Pauli RM et al (1984) Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr 104(3):342–348
Article CAS PubMed Google Scholar
Cheung MS et al (2021) Achondroplasia Foramen Magnum score: screening infants for stenosis. Arch Dis Child 106(2):180–184
Ednick M et al (2009) Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr 155(4):510–515
Legare JM et al (2021) Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers. J Neurosurg Pediatr: p. 1–7
Ng DK, Chan CH (2013) A review of normal values of infant sleep polysomnography. Pediatr Neonatol 54(2):82–87
Daftary AS et al (2019) Polysomnography reference values in healthy newborns. J Clin Sleep Med 15(3):437–443
Article PubMed PubMed Central Google Scholar
Kanack MD et al (2022) Normal neonatal sleep defined: Refining Patient Selection and Interpreting Sleep outcomes for Mandibular Distraction. Plast Reconstr Surg Glob Open 10(1):e4031
Article PubMed PubMed Central Google Scholar
Kaditis A, Gozal D (2022) Sleep studies for clinical indications during the First Year of Life: infants are not small children. Child (Basel), 9(4)
Kukkola HL, Kirjavainen T (2022) Obstructive sleep apnea in young infants: sleep position dependence and spontaneous improvement. Pediatr Pulmonol
Kashanian A et al (2020) Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis. Am J Med Genet A 182(8):1896–1905
King JA et al (2009) Neurosurgical implications of achondroplasia. J Neurosurg Pediatr 4(4):297–306
Ho NC et al (2004) Living with achondroplasia: quality of life evaluation following cervico-medullary decompression. Am J Med Genet A 131(2):163–167
Bagley CA et al (2006) Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurgery: Pediatr PED 104(3):166–172
Shimony N et al (2015) Surgical treatment for cervicomedullary compression among infants with achondroplasia. Childs Nerv Syst 31(5):743–750
Booth KL et al (2020) Management of obstructive sleep apnea in children with achondroplasia: outcomes of surgical interventions. Int J Pediatr Otorhinolaryngol 138:110332
留言 (0)