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Atresia of small intestine

MedGen UID:
78590
•Concept ID:
C0266172
•
Congenital Abnormality
Synonyms: Congenital atresia of the small intestine; Small intestine atresia
SNOMED CT: Atresia of small intestine (84296002); Congenital atresia of small intestine (84296002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0009476
Orphanet: ORPHA1201

Definition

A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtresia of small intestine

Professional guidelines

PubMed

Preliminary Investigation of the Diagnosis of Neonatal Congenital Small Bowel Atresia by Ultrasound.
Hao J, Zhang Y, Tianyu L, Bo S, Shu F, Feng S, Chao J, Ying H
Biomed Res Int 2019;2019:7097159. Epub 2019 Sep 29 doi: 10.1155/2019/7097159. PMID: 31662992Free PMC Article
Presentation and outcome of treatment of jejunoileal atresia in Nigeria.
Sholadoye TT, Mshelbwala PM, Ameh EA
Afr J Paediatr Surg 2018 Apr-Jun;15(2):84-87. doi: 10.4103/ajps.AJPS_120_16. PMID: 31290469Free PMC Article
Diagnostic Accuracy of Prenatal Ultrasound in Identifying Jejunal and Ileal Atresia.
John R, D'Antonio F, Khalil A, Bradley S, Giuliani S
Fetal Diagn Ther 2015;38(2):142-6. Epub 2015 Jan 21 doi: 10.1159/000368603. PMID: 25613369

Recent clinical studies

Etiology

The profile and outcome of small bowel atresia at Universitas Academic Hospital.
du Preez H, Brits E
S Afr J Surg 2023 Mar;61(1):61-65. PMID: 37052278
Diagnostic value of the microcolon using ultrasonography in small bowel atresia.
Ju H, Feng S, Huang Y
BMC Pediatr 2022 Oct 6;22(1):576. doi: 10.1186/s12887-022-03629-z. PMID: 36203132Free PMC Article
Preliminary Investigation of the Diagnosis of Neonatal Congenital Small Bowel Atresia by Ultrasound.
Hao J, Zhang Y, Tianyu L, Bo S, Shu F, Feng S, Chao J, Ying H
Biomed Res Int 2019;2019:7097159. Epub 2019 Sep 29 doi: 10.1155/2019/7097159. PMID: 31662992Free PMC Article
Presentation and outcome of treatment of jejunoileal atresia in Nigeria.
Sholadoye TT, Mshelbwala PM, Ameh EA
Afr J Paediatr Surg 2018 Apr-Jun;15(2):84-87. doi: 10.4103/ajps.AJPS_120_16. PMID: 31290469Free PMC Article
Population-based study of esophageal and small intestinal atresia/stenosis.
Takahashi D, Hiroma T, Takamizawa S, Nakamura T
Pediatr Int 2014 Dec;56(6):838-844. Epub 2014 Sep 26 doi: 10.1111/ped.12359. PMID: 24730728

Diagnosis

The profile and outcome of small bowel atresia at Universitas Academic Hospital.
du Preez H, Brits E
S Afr J Surg 2023 Mar;61(1):61-65. PMID: 37052278
Diagnostic value of the microcolon using ultrasonography in small bowel atresia.
Ju H, Feng S, Huang Y
BMC Pediatr 2022 Oct 6;22(1):576. doi: 10.1186/s12887-022-03629-z. PMID: 36203132Free PMC Article
Small-bowel atresias: a case series with review of the disease and imaging findings.
Maestro Durán MA, Costas Mora M, Camino Caballero F
Radiologia (Engl Ed) 2022 Mar-Apr;64(2):156-163. doi: 10.1016/j.rxeng.2021.05.002. PMID: 35504681
Presentation and outcome of treatment of jejunoileal atresia in Nigeria.
Sholadoye TT, Mshelbwala PM, Ameh EA
Afr J Paediatr Surg 2018 Apr-Jun;15(2):84-87. doi: 10.4103/ajps.AJPS_120_16. PMID: 31290469Free PMC Article
Accuracy of prenatal ultrasound in detecting jejunal and ileal atresia: systematic review and meta-analysis.
Virgone C, D'antonio F, Khalil A, Jonh R, Manzoli L, Giuliani S
Ultrasound Obstet Gynecol 2015 May;45(5):523-9. doi: 10.1002/uog.14651. PMID: 25157626

Therapy

Diagnostic performance and role of the contrast enema for low intestinal obstruction in neonates.
Baad M, Delgado J, Dayneka JS, Anupindi SA, Reid JR
Pediatr Surg Int 2020 Sep;36(9):1093-1101. Epub 2020 Jun 23 doi: 10.1007/s00383-020-04701-4. PMID: 32572600
Is Tapering Enteroplasty an Alternative to Resection of Dilated Bowel in Small Intestinal Atresia?
Dewberry LC, Hilton SA, Vuille-Dit-Bille RN, Liechty KW
J Surg Res 2020 Feb;246:1-5. Epub 2019 Sep 18 doi: 10.1016/j.jss.2019.08.014. PMID: 31541708
Maternal antihypertensive medication use and selected birth defects in the National Birth Defects Prevention Study.
Fisher SC, Van Zutphen AR, Werler MM, Romitti PA, Cunniff C, Browne ML; National Birth Defects Prevention Study
Birth Defects Res 2018 Nov 15;110(19):1433-1442. Epub 2018 Sep 10 doi: 10.1002/bdr2.1372. PMID: 30260586Free PMC Article
The Surgical Correction of Congenital Deformities: The Treatment of Diaphragmatic Hernia, Esophageal Atresia and Small Bowel Atresia.
Wessel LM, Fuchs J, Rolle U
Dtsch Arztebl Int 2015 May 15;112(20):357-64. doi: 10.3238/arztebl.2015.0357. PMID: 26051693Free PMC Article

Prognosis

The profile and outcome of small bowel atresia at Universitas Academic Hospital.
du Preez H, Brits E
S Afr J Surg 2023 Mar;61(1):61-65. PMID: 37052278
Small-bowel atresias: a case series with review of the disease and imaging findings.
Maestro Durán MA, Costas Mora M, Camino Caballero F
Radiologia (Engl Ed) 2022 Mar-Apr;64(2):156-163. doi: 10.1016/j.rxeng.2021.05.002. PMID: 35504681
Presentation and outcome of treatment of jejunoileal atresia in Nigeria.
Sholadoye TT, Mshelbwala PM, Ameh EA
Afr J Paediatr Surg 2018 Apr-Jun;15(2):84-87. doi: 10.4103/ajps.AJPS_120_16. PMID: 31290469Free PMC Article
Diagnostic Accuracy of Prenatal Ultrasound in Identifying Jejunal and Ileal Atresia.
John R, D'Antonio F, Khalil A, Bradley S, Giuliani S
Fetal Diagn Ther 2015;38(2):142-6. Epub 2015 Jan 21 doi: 10.1159/000368603. PMID: 25613369
Accuracy of prenatal ultrasound in detecting jejunal and ileal atresia: systematic review and meta-analysis.
Virgone C, D'antonio F, Khalil A, Jonh R, Manzoli L, Giuliani S
Ultrasound Obstet Gynecol 2015 May;45(5):523-9. doi: 10.1002/uog.14651. PMID: 25157626

Clinical prediction guides

The profile and outcome of small bowel atresia at Universitas Academic Hospital.
du Preez H, Brits E
S Afr J Surg 2023 Mar;61(1):61-65. PMID: 37052278
Diagnostic value of the microcolon using ultrasonography in small bowel atresia.
Ju H, Feng S, Huang Y
BMC Pediatr 2022 Oct 6;22(1):576. doi: 10.1186/s12887-022-03629-z. PMID: 36203132Free PMC Article
Accuracy of radiographic estimation of small bowel dimensions in pediatric patients with short bowel syndrome.
Lodwick D, Dienhart M, Ambeba E, Yacob D, Balint J, Bates DG, Minneci PC
J Pediatr Surg 2016 Jun;51(6):953-6. Epub 2016 Mar 2 doi: 10.1016/j.jpedsurg.2016.02.059. PMID: 26995513
Diagnostic Accuracy of Prenatal Ultrasound in Identifying Jejunal and Ileal Atresia.
John R, D'Antonio F, Khalil A, Bradley S, Giuliani S
Fetal Diagn Ther 2015;38(2):142-6. Epub 2015 Jan 21 doi: 10.1159/000368603. PMID: 25613369
Accuracy of prenatal ultrasound in detecting jejunal and ileal atresia: systematic review and meta-analysis.
Virgone C, D'antonio F, Khalil A, Jonh R, Manzoli L, Giuliani S
Ultrasound Obstet Gynecol 2015 May;45(5):523-9. doi: 10.1002/uog.14651. PMID: 25157626

Recent systematic reviews

Accuracy of prenatal ultrasound in detecting jejunal and ileal atresia: systematic review and meta-analysis.
Virgone C, D'antonio F, Khalil A, Jonh R, Manzoli L, Giuliani S
Ultrasound Obstet Gynecol 2015 May;45(5):523-9. doi: 10.1002/uog.14651. PMID: 25157626

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