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Non-syndromic intestinal malformation

MedGen UID:
1842983
Concept ID:
C5681766
Congenital Abnormality
Orphanet: ORPHA108967

Recent clinical studies

Etiology

Mishra PR, Stringer MD
Pediatr Surg Int 2021 Nov;37(11):1607-1612. Epub 2021 Jul 25 doi: 10.1007/s00383-021-04969-0. PMID: 34304286
Feldkamp ML, Botto LD, Byrne JLB, Krikov S, Carey JC
Am J Med Genet A 2016 Feb;170A(2):306-315. Epub 2015 Oct 16 doi: 10.1002/ajmg.a.37437. PMID: 26473400
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
Moore SW
Pediatr Surg Int 2013 Jul;29(7):665-76. Epub 2013 Apr 9 doi: 10.1007/s00383-013-3306-8. PMID: 23568541
Godbole K
Indian Pediatr 2004 Nov;41(11):1115-23. PMID: 15591661

Diagnosis

Mishra PR, Stringer MD
Pediatr Surg Int 2021 Nov;37(11):1607-1612. Epub 2021 Jul 25 doi: 10.1007/s00383-021-04969-0. PMID: 34304286
Klee KMC, Janecke AR, Civan HA, Rosipal Š, Heinz-Erian P, Huber LA, Müller T, Vogel GF
Hum Genet 2020 Oct;139(10):1247-1259. Epub 2020 Apr 18 doi: 10.1007/s00439-020-02168-w. PMID: 32306098Free PMC Article
Gunadi, Budi NYP, Sethi R, Fauzi AR, Kalim AS, Indrawan T, Iskandar K, Makhmudi A, Adrianto I, San LP
BMC Pediatr 2018 Sep 4;18(1):292. doi: 10.1186/s12887-018-1265-x. PMID: 30180823Free PMC Article
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
Godbole K
Indian Pediatr 2004 Nov;41(11):1115-23. PMID: 15591661

Therapy

Broniszczak D, Apanasiewicz A, Czubkowski P, Kaliciński P, Ismail H, Ostoja-Chyzynska A, Markiewicz-Kijewska M
Ann Transplant 2011 Jan-Mar;16(1):14-7. PMID: 21436769

Prognosis

Gunadi, Kalim AS, Iskandar K, Marcellus, Puspitarani DA, Diposarosa R, Makhmudi A, Astuti GDN
J Pediatr Surg 2023 Apr;58(4):723-728. Epub 2022 Nov 25 doi: 10.1016/j.jpedsurg.2022.11.011. PMID: 36586783
Schierz IAM, Pinello G, Piro E, Giuffrè M, Cimador M, Corsello G
Early Hum Dev 2020 Feb;141:104945. Epub 2019 Dec 31 doi: 10.1016/j.earlhumdev.2019.104945. PMID: 31901655
Gunadi, Budi NYP, Sethi R, Fauzi AR, Kalim AS, Indrawan T, Iskandar K, Makhmudi A, Adrianto I, San LP
BMC Pediatr 2018 Sep 4;18(1):292. doi: 10.1186/s12887-018-1265-x. PMID: 30180823Free PMC Article
Feldkamp ML, Botto LD, Byrne JLB, Krikov S, Carey JC
Am J Med Genet A 2016 Feb;170A(2):306-315. Epub 2015 Oct 16 doi: 10.1002/ajmg.a.37437. PMID: 26473400
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

Clinical prediction guides

Gunadi, Kalim AS, Iskandar K, Marcellus, Puspitarani DA, Diposarosa R, Makhmudi A, Astuti GDN
J Pediatr Surg 2023 Apr;58(4):723-728. Epub 2022 Nov 25 doi: 10.1016/j.jpedsurg.2022.11.011. PMID: 36586783
Gunadi, Budi NYP, Sethi R, Fauzi AR, Kalim AS, Indrawan T, Iskandar K, Makhmudi A, Adrianto I, San LP
BMC Pediatr 2018 Sep 4;18(1):292. doi: 10.1186/s12887-018-1265-x. PMID: 30180823Free PMC Article
Feldkamp ML, Botto LD, Byrne JLB, Krikov S, Carey JC
Am J Med Genet A 2016 Feb;170A(2):306-315. Epub 2015 Oct 16 doi: 10.1002/ajmg.a.37437. PMID: 26473400
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
Moore SW
Pediatr Surg Int 2012 Nov;28(11):1045-58. Epub 2012 Sep 23 doi: 10.1007/s00383-012-3175-6. PMID: 23001136

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