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Hypoplastic colon

MedGen UID:
853248
•Concept ID:
C1392839
•
Finding
Synonyms: Hypoplasia of the colon; Underdeveloped colon
 
HPO: HP:0005210

Definition

Underdevelopment of the colon. [from HPO]

Conditions with this feature

Acrocephalopolydactyly
MedGen UID:
501209
•Concept ID:
C3495588
•
Disease or Syndrome
Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).
See: Condition Record
Acrocephalopolydactyly

Professional guidelines

PubMed

Prenatal diagnosis of cloacal dysgenesis sequence: differential diagnosis from other forms of fetal obstructive uropathy.
Qureshi F, Jacques SM, Yaron Y, Kramer RL, Evans MI, Johnson MP
Fetal Diagn Ther 1998 Mar-Apr;13(2):69-74. doi: 10.1159/000020808. PMID: 9650649

Recent clinical studies

Etiology

Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings.
Hong SY, Kim SJ, Park MH, Lee KA
Medicina (Kaunas) 2023 Jul 28;59(8) doi: 10.3390/medicina59081387. PMID: 37629676Free PMC Article
Challenges in the management of bilateral single-system ectopic ureters in male infants.
O'Connor E, Peeraully R, Shepherd G, Shenoy M
Urology 2014 Jun;83(6):1373-7. Epub 2014 Mar 5 doi: 10.1016/j.urology.2013.12.047. PMID: 24612757
Vaginal replacement in the pediatric age group: a 34-year experience of intestinal vaginoplasty in children and young girls.
Lima M, Ruggeri G, Randi B, Dòmini M, Gargano T, La Pergola E, Gregori G
J Pediatr Surg 2010 Oct;45(10):2087-91. doi: 10.1016/j.jpedsurg.2010.05.016. PMID: 20920736
The histopathology of gastrointestinal motility disorders in children.
Feichter S, Meier-Ruge WA, Bruder E
Semin Pediatr Surg 2009 Nov;18(4):206-11. doi: 10.1053/j.sempedsurg.2009.07.002. PMID: 19782302
Suitability of selected markers for identification of elements of the Intestinal Nervous System (INS).
Dzienis-Koronkiewicz E, Debek W, Sulkowska M, Chyczewski L
Eur J Pediatr Surg 2002 Dec;12(6):397-401. doi: 10.1055/s-2002-36856. PMID: 12548493

Diagnosis

Late presentation of congenital type IV esophageal hiatus hernia in a 9-year-old boy: a case report.
Tariverdi M, Hesarooeyeh ZG, Khalili E, Majidi S, Rezazadeh M
J Med Case Rep 2022 Mar 15;16(1):104. doi: 10.1186/s13256-022-03331-9. PMID: 35287701Free PMC Article
Challenges in the management of bilateral single-system ectopic ureters in male infants.
O'Connor E, Peeraully R, Shepherd G, Shenoy M
Urology 2014 Jun;83(6):1373-7. Epub 2014 Mar 5 doi: 10.1016/j.urology.2013.12.047. PMID: 24612757
Vaginal replacement in the pediatric age group: a 34-year experience of intestinal vaginoplasty in children and young girls.
Lima M, Ruggeri G, Randi B, Dòmini M, Gargano T, La Pergola E, Gregori G
J Pediatr Surg 2010 Oct;45(10):2087-91. doi: 10.1016/j.jpedsurg.2010.05.016. PMID: 20920736
The histopathology of gastrointestinal motility disorders in children.
Feichter S, Meier-Ruge WA, Bruder E
Semin Pediatr Surg 2009 Nov;18(4):206-11. doi: 10.1053/j.sempedsurg.2009.07.002. PMID: 19782302
Enterolithiasis: a case report and review.
Bergholz R, Wenke K
J Pediatr Surg 2009 Apr;44(4):828-30. doi: 10.1016/j.jpedsurg.2008.11.036. PMID: 19361648

Therapy

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.
Stagi S, Lapi E, Pantaleo M, Carella M, Petracca A, De Crescenzo A, Zelante L, Riccio A, de Martino M
BMC Med Genet 2015 Aug 23;16:69. doi: 10.1186/s12881-015-0212-z. PMID: 26297663Free PMC Article
Colonic perforation after rituximab treatment for posttransplant lymphoproliferative disorder.
Kutsch E, Kreiger P, Consolini D, Furuya KN
J Pediatr Gastroenterol Nutr 2013 Jun;56(6):e41. doi: 10.1097/MPG.0b013e3182519cfc. PMID: 22395186
The clinical characteristics of lupus related protein-losing enteropathy in Hong Kong Chinese population: 10 years of experience from a regional hospital.
Law ST, Ma KM, Li KK
Lupus 2012 Jul;21(8):840-7. Epub 2012 Feb 17 doi: 10.1177/0961203312438113. PMID: 22343095
Intermediate term results of infant orthotopic cardiac transplantation from two centers.
Backer CL, Zales VR, Harrison HL, Idriss FS, Benson DW Jr, Mavroudis C
J Thorac Cardiovasc Surg 1991 May;101(5):826-32. PMID: 1902539

Prognosis

First multivisceral transplantation in Mitchell-Riley/Martinez-Frias syndrome.
Estefanía-Fernández K, Andrés A, Alcolea A, Velayos-López M, Pastrían LG, Ramírez-Amorós C, Gonzalez R, Sarría M, Ramos E, López-Santamaria M, Hernández F
Pediatr Transplant 2022 Aug;26(5):e14270. Epub 2022 Mar 20 doi: 10.1111/petr.14270. PMID: 35307919
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.
Stagi S, Lapi E, Pantaleo M, Carella M, Petracca A, De Crescenzo A, Zelante L, Riccio A, de Martino M
BMC Med Genet 2015 Aug 23;16:69. doi: 10.1186/s12881-015-0212-z. PMID: 26297663Free PMC Article
Challenges in the management of bilateral single-system ectopic ureters in male infants.
O'Connor E, Peeraully R, Shepherd G, Shenoy M
Urology 2014 Jun;83(6):1373-7. Epub 2014 Mar 5 doi: 10.1016/j.urology.2013.12.047. PMID: 24612757
Enterolithiasis: a case report and review.
Bergholz R, Wenke K
J Pediatr Surg 2009 Apr;44(4):828-30. doi: 10.1016/j.jpedsurg.2008.11.036. PMID: 19361648
Updated results on intestinal neuronal dysplasia (IND B).
Meier-Ruge WA, Ammann K, Bruder E, Holschneider AM, Schärli AF, Schmittenbecher PP, Stoss F
Eur J Pediatr Surg 2004 Dec;14(6):384-91. doi: 10.1055/s-2004-821120. PMID: 15630639

Clinical prediction guides

Morphological and Functional Colonic Defects Caused by a Mutated Thyroid Hormone Receptor α.
Kim M, Kruhlak M, Hoffmann V, Zerfas P, Bishop K, Doolittle WKL, Edmondson EF, Zhu YJ, Cheng SY
Thyroid 2023 Feb;33(2):239-250. Epub 2022 Nov 3 doi: 10.1089/thy.2022.0336. PMID: 36103385Free PMC Article
Vaginal replacement in the pediatric age group: a 34-year experience of intestinal vaginoplasty in children and young girls.
Lima M, Ruggeri G, Randi B, Dòmini M, Gargano T, La Pergola E, Gregori G
J Pediatr Surg 2010 Oct;45(10):2087-91. doi: 10.1016/j.jpedsurg.2010.05.016. PMID: 20920736
Suitability of selected markers for identification of elements of the Intestinal Nervous System (INS).
Dzienis-Koronkiewicz E, Debek W, Sulkowska M, Chyczewski L
Eur J Pediatr Surg 2002 Dec;12(6):397-401. doi: 10.1055/s-2002-36856. PMID: 12548493
Varicella embryopathy.
Magliocco AM, Demetrick DJ, Sarnat HB, Hwang WS
Arch Pathol Lab Med 1992 Feb;116(2):181-6. PMID: 1733414

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