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Quoted phrase not found in phrase index: "Asphyxiating thoracic dystrophy 5"
Page 1
Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.
Poyner SE, Bradshaw WT. Poyner SE, et al. Neonatal Netw. 2013 Sep-Oct;32(5):342-52. doi: 10.1891/0730-0832.32.5.342. Neonatal Netw. 2013. PMID: 23985472 Review.
Jeune syndrome (JS), or asphyxiating thoracic dystrophy, is a rare genetic disorder characterized by a small, narrow thorax, with associated shortening of limbs. ...Even with increased research into treatment of this disorder, prognosis i …
Jeune syndrome (JS), or asphyxiating thoracic dystrophy, is a rare genetic disorder characterized by a sm …
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V. Baujat G, et al. J Med Genet. 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282. J Med Genet. 2013. PMID: 23339108
The clinical and molecular heterogeneity leads to difficulties in the evaluation of the long-term prognosis. METHODS: We investigated 53 ATD cases (23 living cases and 30 fetuses) from 39 families. ...The presence of only one mutation in six families and the exclusion of t …
The clinical and molecular heterogeneity leads to difficulties in the evaluation of the long-term prognosis. METHODS: We investigated …
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC. Keppler-Noreuil KM, et al. Am J Med Genet A. 2011 May;155A(5):1021-32. doi: 10.1002/ajmg.a.33892. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465651 Review.
Jeune syndrome, originally described as asphyxiating thoracic dystrophy by Jeune et al. [Jeune et al. (1955); Arch Fr Pediatr 12:886-891], is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities, and variable r …
Jeune syndrome, originally described as asphyxiating thoracic dystrophy by Jeune et al. [Jeune et al. (19 …
Fetal magnetic resonance imaging of skeletal dysplasias.
Gilligan LA, Calvo-Garcia MA, Weaver KN, Kline-Fath BM. Gilligan LA, et al. Pediatr Radiol. 2020 Feb;50(2):224-233. doi: 10.1007/s00247-019-04537-8. Epub 2019 Nov 27. Pediatr Radiol. 2020. PMID: 31776601
BACKGROUND: Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited. ...Diagnoses included achondrogenesis (n=2), achondroplasia (n=5), Boomerang dysplasia (n=1), campomeli …
BACKGROUND: Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; how …
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K; Knoers NV, Roepman R, Mitchison HM. Schmidts M, et al. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1. J Med Genet. 2013. PMID: 23456818 Free PMC article.
BACKGROUND: Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. ...DYNC2H1 pat …
BACKGROUND: Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasi …
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.
Stembalska A, Rydzanicz M, Klaniewska M, Dudarewicz L, Pollak A, Biela M, Stawinski P, Ploski R, Smigiel R. Stembalska A, et al. Genes (Basel). 2022 Jul 27;13(8):1339. doi: 10.3390/genes13081339. Genes (Basel). 2022. PMID: 35893076 Free PMC article.
The high clinical and genetic diversity in SDs cause difficulties in prenatal diagnosis. To establish a correct prognosis and better management, it is very important to distinguish SDs with poor life-limiting prognosis or lethal SDs from other ones. ...We report a c …
The high clinical and genetic diversity in SDs cause difficulties in prenatal diagnosis. To establish a correct prognosis and better …
Management of Thoracic Insufficiency Syndrome in Patients With Jeune Syndrome Using the 70 mm Radius Vertical Expandable Prosthetic Titanium Rib.
O'Brien A, Roth MK, Athreya H, Reinker K, Koeck W, Patil V, Trevino H, Simmons J, Joshi AP, Smith MD, Campbell RM. O'Brien A, et al. J Pediatr Orthop. 2015 Dec;35(8):783-97. doi: 10.1097/BPO.0000000000000383. J Pediatr Orthop. 2015. PMID: 25575358
BACKGROUND: Jeune syndrome (JS) often results in lethal thoracic insufficiency syndrome. ...Average computed tomography scan total lung volumes increased 484 to 740 mm3 (P<0.001), and Assisted Ventilation Rate status tended to improve (P=0.07). Average forced vit …
BACKGROUND: Jeune syndrome (JS) often results in lethal thoracic insufficiency syndrome. ...Average computed tomography scan t …
Skeletal dysplasias: 38 prenatal cases.
Witters I, Moerman P, Fryns JP. Witters I, et al. Genet Couns. 2008;19(3):267-75. Genet Couns. 2008. PMID: 18990981
Eleven skeletal dysplasias were diagnosed > 30 weeks (29%) and these included all achondroplasias (n = 6), hypophosphatasia (n = 1), Jeune syndrome (n = 1), osteogenesis imperfecta type II (n = l), type I (n = 1) and type III (n = 1). ...Specific diagnoses includ …
Eleven skeletal dysplasias were diagnosed > 30 weeks (29%) and these included all achondroplasias (n = 6), hypophosphatasia (n = 1), J …
Use of distraction osteogenesis techniques in skeletal dysplasias.
Myers GJ, Bache CE, Bradish CF. Myers GJ, et al. J Pediatr Orthop. 2003 Jan-Feb;23(1):41-5. J Pediatr Orthop. 2003. PMID: 12499941
Circular frames were associated with improved results. Spondylometaphyseal dysplasia and Jeune syndrome were the only dysplasias treated that were associated with significant complications....
Circular frames were associated with improved results. Spondylometaphyseal dysplasia and Jeune syndrome were the only dysplasi …