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Syndromic esophageal malformation

MedGen UID:
1843093
•Concept ID:
C5681763
•
Congenital Abnormality
Orphanet: ORPHA108961

Professional guidelines

PubMed

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.
Altintas B, Giri N, McReynolds LJ, Best A, Alter BP
Haematologica 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981. PMID: 35417938Free PMC Article
Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment.
Calandra-Buonaura G, Alfonsi E, Vignatelli L, Benarroch EE, Giannini G, Iranzo A, Low PA, Martinelli P, Provini F, Quinn N, Tolosa E, Wenning GK, Abbruzzese G, Bower P, Antonini A, Bhatia KP, Bonavita J, Pellecchia MT, Pizzorni N, Tison F, Ghorayeb I, Meissner WG, Ozawa T, Pacchetti C, Pozzi NG, Vicini C, Schindler A, Cortelli P, Kaufmann H
Parkinsonism Relat Disord 2021 May;86:124-132. Epub 2021 Mar 30 doi: 10.1016/j.parkreldis.2021.03.027. PMID: 33839029
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E
J Natl Cancer Inst 2013 Nov 6;105(21):1607-16. Epub 2013 Oct 17 doi: 10.1093/jnci/djt277. PMID: 24136893

Recent clinical studies

Etiology

Gastrointestinal Emergency in Neonates and Infants: A Pictorial Essay.
Choi G, Je BK, Kim YJ
Korean J Radiol 2022 Jan;23(1):124-138. doi: 10.3348/kjr.2021.0111. PMID: 34983099Free PMC Article
Respiratory manifestations in the Ehlers-Danlos syndromes.
Bascom R, Dhingra R, Francomano CA
Am J Med Genet C Semin Med Genet 2021 Dec;187(4):533-548. Epub 2021 Nov 22 doi: 10.1002/ajmg.c.31953. PMID: 34811894
Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment.
Calandra-Buonaura G, Alfonsi E, Vignatelli L, Benarroch EE, Giannini G, Iranzo A, Low PA, Martinelli P, Provini F, Quinn N, Tolosa E, Wenning GK, Abbruzzese G, Bower P, Antonini A, Bhatia KP, Bonavita J, Pellecchia MT, Pizzorni N, Tison F, Ghorayeb I, Meissner WG, Ozawa T, Pacchetti C, Pozzi NG, Vicini C, Schindler A, Cortelli P, Kaufmann H
Parkinsonism Relat Disord 2021 May;86:124-132. Epub 2021 Mar 30 doi: 10.1016/j.parkreldis.2021.03.027. PMID: 33839029
Feeding problems and gastrointestinal diseases in Down syndrome.
Ravel A, Mircher C, Rebillat AS, Cieuta-Walti C, Megarbane A
Arch Pediatr 2020 Jan;27(1):53-60. Epub 2019 Nov 26 doi: 10.1016/j.arcped.2019.11.008. PMID: 31784293
Anaesthesia of brachycephalic dogs.
Downing F, Gibson S
J Small Anim Pract 2018 Dec;59(12):725-733. Epub 2018 Oct 29 doi: 10.1111/jsap.12948. PMID: 30374971

Diagnosis

Gastrointestinal Emergency in Neonates and Infants: A Pictorial Essay.
Choi G, Je BK, Kim YJ
Korean J Radiol 2022 Jan;23(1):124-138. doi: 10.3348/kjr.2021.0111. PMID: 34983099Free PMC Article
Respiratory manifestations in the Ehlers-Danlos syndromes.
Bascom R, Dhingra R, Francomano CA
Am J Med Genet C Semin Med Genet 2021 Dec;187(4):533-548. Epub 2021 Nov 22 doi: 10.1002/ajmg.c.31953. PMID: 34811894
Feeding problems and gastrointestinal diseases in Down syndrome.
Ravel A, Mircher C, Rebillat AS, Cieuta-Walti C, Megarbane A
Arch Pediatr 2020 Jan;27(1):53-60. Epub 2019 Nov 26 doi: 10.1016/j.arcped.2019.11.008. PMID: 31784293
Oesophageal atresia.
van Lennep M, Singendonk MMJ, Dall'Oglio L, Gottrand F, Krishnan U, Terheggen-Lagro SWJ, Omari TI, Benninga MA, van Wijk MP
Nat Rev Dis Primers 2019 Apr 18;5(1):26. doi: 10.1038/s41572-019-0077-0. PMID: 31000707
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

Impact of opioids on esophageal motility.
Snyder DL, Vela MF
Neurogastroenterol Motil 2023 May;35(5):e14587. Epub 2023 Apr 15 doi: 10.1111/nmo.14587. PMID: 37060333
Anaesthesia of brachycephalic dogs.
Downing F, Gibson S
J Small Anim Pract 2018 Dec;59(12):725-733. Epub 2018 Oct 29 doi: 10.1111/jsap.12948. PMID: 30374971
Pathophysiology of Eosinophilic Esophagitis.
O'Shea KM, Aceves SS, Dellon ES, Gupta SK, Spergel JM, Furuta GT, Rothenberg ME
Gastroenterology 2018 Jan;154(2):333-345. Epub 2017 Jul 27 doi: 10.1053/j.gastro.2017.06.065. PMID: 28757265Free PMC Article
Death by food.
Byard RW
Forensic Sci Med Pathol 2018 Sep;14(3):395-401. Epub 2017 Jul 15 doi: 10.1007/s12024-017-9899-9. PMID: 28710688Free PMC Article
Postgastrectomy syndromes.
Eagon JC, Miedema BW, Kelly KA
Surg Clin North Am 1992 Apr;72(2):445-65. doi: 10.1016/s0039-6109(16)45689-6. PMID: 1549803

Prognosis

Survival Trends and Syndromic Esophageal Atresia.
Tan Tanny SP, Beck C, King SK, Hawley A, Brooks JA, McLeod E, Hutson JM, Teague WJ
Pediatrics 2021 May;147(5) doi: 10.1542/peds.2020-029884. PMID: 33911029
Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment.
Calandra-Buonaura G, Alfonsi E, Vignatelli L, Benarroch EE, Giannini G, Iranzo A, Low PA, Martinelli P, Provini F, Quinn N, Tolosa E, Wenning GK, Abbruzzese G, Bower P, Antonini A, Bhatia KP, Bonavita J, Pellecchia MT, Pizzorni N, Tison F, Ghorayeb I, Meissner WG, Ozawa T, Pacchetti C, Pozzi NG, Vicini C, Schindler A, Cortelli P, Kaufmann H
Parkinsonism Relat Disord 2021 May;86:124-132. Epub 2021 Mar 30 doi: 10.1016/j.parkreldis.2021.03.027. PMID: 33839029
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Postgastrectomy syndromes.
Eagon JC, Miedema BW, Kelly KA
Surg Clin North Am 1992 Apr;72(2):445-65. doi: 10.1016/s0039-6109(16)45689-6. PMID: 1549803

Clinical prediction guides

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B
Hum Mol Genet 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. PMID: 37462524Free PMC Article
Spectrum of fetal limb anomalies.
Thakur S, Chaddha V, Gupta R, Singh C, Dagar S, Shastri A, Tiwari B, Kavitha, Sethia V, Malik M, Jain P, Kapoor A, Kapoor A, Kapoor T, Kapoor A, Kapoor R, Kumar M, Uppal R
J Clin Ultrasound 2023 Jan;51(1):96-106. Epub 2022 Aug 10 doi: 10.1002/jcu.23273. PMID: 36639848
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H
Clin Neurol Neurosurg 2023 Jan;224:107560. Epub 2022 Dec 13 doi: 10.1016/j.clineuro.2022.107560. PMID: 36580738
Survival Trends and Syndromic Esophageal Atresia.
Tan Tanny SP, Beck C, King SK, Hawley A, Brooks JA, McLeod E, Hutson JM, Teague WJ
Pediatrics 2021 May;147(5) doi: 10.1542/peds.2020-029884. PMID: 33911029
Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.
Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A
Eur J Med Genet 2014 Aug;57(8):440-52. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.05.009. PMID: 24931924

Recent systematic reviews

Long-term functional outcomes after replacement of the esophagus in pediatric patients: A systematic literature review.
Garritano S, Irino T, Scandavini CM, Tsekrekos A, Lundell L, Rouvelas I
J Pediatr Surg 2017 Sep;52(9):1398-1408. Epub 2017 Jun 8 doi: 10.1016/j.jpedsurg.2017.05.034. PMID: 28625693
Feeding and reflux in children after mandibular distraction osteogenesis for micrognathia: A systematic review.
Breik O, Umapathysivam K, Tivey D, Anderson P
Int J Pediatr Otorhinolaryngol 2016 Jun;85:128-35. Epub 2016 Apr 11 doi: 10.1016/j.ijporl.2016.03.033. PMID: 27240511
Mandibular distraction osteogenesis for the management of upper airway obstruction in children with micrognathia: a systematic review.
Breik O, Tivey D, Umapathysivam K, Anderson P
Int J Oral Maxillofac Surg 2016 Jun;45(6):769-82. Epub 2016 Feb 8 doi: 10.1016/j.ijom.2016.01.009. PMID: 26867668
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E
J Natl Cancer Inst 2013 Nov 6;105(21):1607-16. Epub 2013 Oct 17 doi: 10.1093/jnci/djt277. PMID: 24136893
Obesity, metabolic syndrome and esophageal adenocarcinoma: epidemiology, etiology and new targets.
Ryan AM, Duong M, Healy L, Ryan SA, Parekh N, Reynolds JV, Power DG
Cancer Epidemiol 2011 Aug;35(4):309-19. Epub 2011 Apr 5 doi: 10.1016/j.canep.2011.03.001. PMID: 21470937

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