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Distal urethral duplication

MedGen UID:
870199
Concept ID:
C4024634
Anatomical Abnormality
HPO: HP:0008706

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistal urethral duplication

Conditions with this feature

Pallister-Hall syndrome
MedGen UID:
120514
Concept ID:
C0265220
Disease or Syndrome
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.

Professional guidelines

PubMed

Costa EC, Ferreira CT, Salle JL, Fraga JC
J Pediatr Surg 2011 Nov;46(11):2184-6. doi: 10.1016/j.jpedsurg.2011.08.022. PMID: 22075355
Bloiso G, Warner R, Cohen M
Urology 1988 Aug;32(2):106-10. doi: 10.1016/0090-4295(88)90308-1. PMID: 3400132

Recent clinical studies

Etiology

Menon P, Rao KLN
J Pediatr Urol 2022 Oct;18(5):663.e1-663.e9. Epub 2022 Sep 5 doi: 10.1016/j.jpurol.2022.08.024. PMID: 36123286
Benya EC, Prendergast FM, Liu DB, Wyers MR
Pediatr Radiol 2021 Jul;51(8):1406-1411. Epub 2021 Feb 12 doi: 10.1007/s00247-021-04979-z. PMID: 33576846
Alanee S, Gupta P, Gleich P, Shukla AR
J Pediatr Urol 2012 Aug;8(4):343-7. doi: 10.1016/j.jpurol.2011.06.011. PMID: 21856235
Arena S, Arena C, Scuderi MG, Sanges G, Arena F, Di Benedetto V
Pediatr Surg Int 2007 Aug;23(8):789-94. Epub 2007 Jun 19 doi: 10.1007/s00383-007-1967-x. PMID: 17576574
Ahmed S, Morris LL, Byard RW
J Pediatr Surg 1992 Nov;27(11):1455-60. doi: 10.1016/0022-3468(92)90199-h. PMID: 1479509

Diagnosis

Menon P, Rao KLN
J Pediatr Urol 2022 Oct;18(5):663.e1-663.e9. Epub 2022 Sep 5 doi: 10.1016/j.jpurol.2022.08.024. PMID: 36123286
Reck-Burneo CA, Lane V, Bates DG, Hogan M, Thompson B, Gasior A, Weaver L, Dingemans AJM, Maloof T, Hoover E, Gagnon R, Wood R, Levitt M
J Pediatr Surg 2019 Aug;54(8):1590-1594. Epub 2019 Apr 4 doi: 10.1016/j.jpedsurg.2019.03.016. PMID: 31027906
Alanee S, Gupta P, Gleich P, Shukla AR
J Pediatr Urol 2012 Aug;8(4):343-7. doi: 10.1016/j.jpurol.2011.06.011. PMID: 21856235
Alfadhel M, Pugash D, Robinson AJ, Murphy JJ, Senger C, Afshar K, Armstrong L
Am J Med Genet A 2009 Dec;149A(12):2795-802. doi: 10.1002/ajmg.a.33091. PMID: 19921644
Singh G, Murray K
Scand J Urol Nephrol 1996 Apr;30(2):149-51. doi: 10.3109/00365599609180907. PMID: 8738063

Therapy

Churchill BM, van Savage JG, Khoury AE, McLorie GA
J Urol 1996 Dec;156(6):2047-9. PMID: 8911387

Prognosis

Menon P, Rao KLN
J Pediatr Urol 2022 Oct;18(5):663.e1-663.e9. Epub 2022 Sep 5 doi: 10.1016/j.jpurol.2022.08.024. PMID: 36123286
Reck-Burneo CA, Lane V, Bates DG, Hogan M, Thompson B, Gasior A, Weaver L, Dingemans AJM, Maloof T, Hoover E, Gagnon R, Wood R, Levitt M
J Pediatr Surg 2019 Aug;54(8):1590-1594. Epub 2019 Apr 4 doi: 10.1016/j.jpedsurg.2019.03.016. PMID: 31027906
Arena S, Arena C, Scuderi MG, Sanges G, Arena F, Di Benedetto V
Pediatr Surg Int 2007 Aug;23(8):789-94. Epub 2007 Jun 19 doi: 10.1007/s00383-007-1967-x. PMID: 17576574
Jaramillo D, Lebowitz RL, Hendren WH
Radiology 1990 Nov;177(2):441-8. doi: 10.1148/radiology.177.2.2217782. PMID: 2217782
Lang DJ, Van Dyke DC, Heide F, Lowe PL
Clin Pediatr (Phila) 1987 Jan;26(1):40-2. doi: 10.1177/000992288702600107. PMID: 2947772

Clinical prediction guides

Reck-Burneo CA, Lane V, Bates DG, Hogan M, Thompson B, Gasior A, Weaver L, Dingemans AJM, Maloof T, Hoover E, Gagnon R, Wood R, Levitt M
J Pediatr Surg 2019 Aug;54(8):1590-1594. Epub 2019 Apr 4 doi: 10.1016/j.jpedsurg.2019.03.016. PMID: 31027906
Bush NC, Barber TD, Dajusta D, Prieto JC, Ziada A, Snodgrass W
J Pediatr Urol 2016 Jun;12(3):162.e1-4. Epub 2016 Jan 20 doi: 10.1016/j.jpurol.2015.12.007. PMID: 27317623
Sencan A, Yıldız M, Ergin M, Hoşgör M
Urology 2013 Aug;82(2):451-3. Epub 2013 Mar 16 doi: 10.1016/j.urology.2013.02.010. PMID: 23506728
Swana HS, Hakky TS, Rich MA
Int Braz J Urol 2013 Jan-Feb;39(1):143, discussion 144. doi: 10.1590/S1677-5538.IBJU.2013.01.20. PMID: 23489509
Jaramillo D, Lebowitz RL, Hendren WH
Radiology 1990 Nov;177(2):441-8. doi: 10.1148/radiology.177.2.2217782. PMID: 2217782

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