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Quoted phrase not found in phrase index: "Asphyxiating thoracic dystrophy 5"
Page 1
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.
Schaballie H, Renard M, Vermylen C, Scheers I, Revencu N, Regal L, Cassiman D, Sevenants L, Hoffman I, Corveleyn A, Bordon V, Haerynck F, Allegaert K, De Boeck K, Roskams T, Boeckx N, Bossuyt X, Meyts I. Schaballie H, et al. Eur J Pediatr. 2013 May;172(5):613-22. doi: 10.1007/s00431-012-1908-0. Epub 2013 Jan 12. Eur J Pediatr. 2013. PMID: 23315050
This study confirms the existing understanding of the classical features of SDS although the typical triad was present in only six out of nine fully studied patients. The following important observations are made in this cohort. Four out of eleven patients were misdiagnose …
This study confirms the existing understanding of the classical features of SDS although the typical triad was present in only six out of ni …
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A. Simonini C, et al. Arch Gynecol Obstet. 2022 Jul;306(1):71-83. doi: 10.1007/s00404-021-06265-7. Epub 2021 Oct 1. Arch Gynecol Obstet. 2022. PMID: 34596737 Free PMC article.
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as …
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrosp …
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 …
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A; UK10K Consortium; Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS. Shaheen R, et al. Hum Mol Genet. 2015 Mar 1;24(5):1410-9. doi: 10.1093/hmg/ddu555. Epub 2014 Oct 30. Hum Mol Genet. 2015. PMID: 25361962 Free PMC article.
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies. JATD is genetically heterogeneous with at least nine genes identified, all encoding ciliary prote …
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range …
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.
We report a case of a foetus showing long bones' shortening and a narrow chest with short ribs, diagnosed prenatally with asphyxiating thoracic dystrophy, also known as Jeune syndrome (ATD; OMIM 208500), caused by compound heterozygous variants …
We report a case of a foetus showing long bones' shortening and a narrow chest with short ribs, diagnosed prenatally with asphyxiating …
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. ...Migration of the rib cradles/titanium slings occurred in 12 patients, superficial infections in 5 patients, deep infections in 4 patients, and wound dehiscence in 5 …
BACKGROUND: Jeune syndrome (JS) often results in lethal thoracic insufficiency syndrome. ...Migration of the rib cradles/titan …
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). In 27 cases a lethal skeleta …
Eleven skeletal dysplasias were diagnosed > 30 weeks (29%) and these included all achondroplasias (n = 6), hypophosphatasia (n = 1), J …
Oral rehabilitation in a patient with Jeune syndrome presenting with multiple teeth agenesis.
Mira PCDS, Arid J, Paula-Silva FWG, de Queiroz AM, de Carvalho FK, Pagnano VO. Mira PCDS, et al. Spec Care Dentist. 2020 Sep;40(5):493-497. doi: 10.1111/scd.12493. Epub 2020 Jul 3. Spec Care Dentist. 2020. PMID: 32620036
Jeune syndrome (JS) is a rare disease, with systemic manifestations, such as renal and hepatic insufficiency, retinal pigmentation, and respiratory insufficiency. ...The treatment plan consisted of preventive, restorative, surgical, and oral rehabilitation. We ob …
Jeune syndrome (JS) is a rare disease, with systemic manifestations, such as renal and hepatic insufficiency, retinal pigmenta …
Neonatal death dwarfism. (A further report).
Kozlowski K, Masel J, Morris L, Kunze D. Kozlowski K, et al. Rofo. 1978 Nov;129(5):626-33. doi: 10.1055/s-0029-1231172. Rofo. 1978. PMID: 152275
Seven cases of rare "Neonatal Death Dwarfism" observed recently in three major Children's Hospitals in Australia are reported. These include Diastrophic Dwarfism, Achondrogenesis II, Lethal Form of Hypophosphatasia, Homozygous Achondroplasia, Minor Form of Asphyxiating …
Seven cases of rare "Neonatal Death Dwarfism" observed recently in three major Children's Hospitals in Australia are reported. These …