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Congenital neuroblastoma

MedGen UID:
870538
Concept ID:
C4024986
Neoplastic Process
HPO: HP:0006742

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital neuroblastoma

Conditions with this feature

Aase-Smith syndrome
MedGen UID:
66316
Concept ID:
C0220686
Disease or Syndrome
A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease.

Professional guidelines

PubMed

Deeg KH, Bettendorf U, Hofmann V
Eur J Pediatr 1998 Apr;157(4):294-7. doi: 10.1007/s004310050814. PMID: 9578964

Recent clinical studies

Etiology

Gigliotti AR, De Ioris MA, De Grandis E, Podda M, Cellini M, Sorrentino S, De Bernardi B, Paladini D, Gandolfo C
Pediatr Hematol Oncol 2016 Mar;33(2):94-101. Epub 2016 Feb 22 doi: 10.3109/08880018.2015.1135364. PMID: 26901768
Kadom N, Rosman NP, Jubouri S, Trofimova A, Egloff AM, Zein WM
Pediatr Radiol 2015 Sep;45(10):1535-43. Epub 2015 Apr 2 doi: 10.1007/s00247-015-3341-9. PMID: 25832988
Lindner W, Behnisch W, Kunz U, Debatin KM, Pohlandt F
Eur J Pediatr 2001 Jul;160(7):436-8. doi: 10.1007/s004310100772. PMID: 11475582
Forman HP, Leonidas JC, Berdon WE, Slovis TL, Wood BP, Samudrala R
Radiology 1990 May;175(2):365-8. doi: 10.1148/radiology.175.2.2183280. PMID: 2183280
EVANS AR
J Clin Pathol 1965 Jan;18(1):54-62. doi: 10.1136/jcp.18.1.54. PMID: 14247705Free PMC Article

Diagnosis

Minakova E, Lang J
Neoreviews 2020 Nov;21(11):e716-e727. doi: 10.1542/neo.21-11-e716. PMID: 33139509
Heling KS, Chaoui R, Hartung J, Kirchmair F, Bollmann R
Fetal Diagn Ther 1999 Jan-Feb;14(1):47-52. doi: 10.1159/000020888. PMID: 10072651
Shimada Y, Sato K, Abe E, Suzuki T, Ishihara Y
Spine (Phila Pa 1976) 1995 Jun 1;20(11):1295-300. doi: 10.1097/00007632-199506000-00019. PMID: 7660240
MACKENZIE DC, HAM JM, HYSLOP RS
Aust N Z J Surg 1965 Feb;34:171-7. PMID: 14271059
EVANS AR
J Clin Pathol 1965 Jan;18(1):54-62. doi: 10.1136/jcp.18.1.54. PMID: 14247705Free PMC Article

Therapy

Rosa RF, Michelon L, Masiero Á, Faria AE, De Souza VF, Dietrich C, Targa LV, Provenzi VO, Pires SR, Zen PR
Birth Defects Res A Clin Mol Teratol 2016 Mar;106(3):208-12. Epub 2016 Feb 15 doi: 10.1002/bdra.23484. PMID: 26875914
Kilani M, Hammami S, Darmoul M, Haddad S, Ben Nsir A, Mnari W, Hattab MN
Arch Pediatr 2016 Mar;23(3):279-82. Epub 2015 Dec 24 doi: 10.1016/j.arcped.2015.11.023. PMID: 26724980
Aguilar S, Louis C, Hicks J, Zage P, Russell H
J Pediatr Hematol Oncol 2014 Mar;36(2):e75-7. doi: 10.1097/MPH.0b013e318290c39e. PMID: 23652876
Tajiri T, Souzaki R, Kinoshita Y, Tanaka S, Koga Y, Suminoe A, Hara T, Kohashi K, Oda Y, Masumoto K, Ohira M, Nakagawara A, Taguchi T
J Pediatr Surg 2010 Dec;45(12):2312-6. doi: 10.1016/j.jpedsurg.2010.08.025. PMID: 21129536
Orgel HA, Hamburger RN, Mendelson LM, Miller JR, Kung FH
Cancer 1977 Sep;40(3):994-7. doi: 10.1002/1097-0142(197709)40:3<994::aid-cncr2820400305>3.0.co;2-5. PMID: 198094

Prognosis

Minakova E, Lang J
Neoreviews 2020 Nov;21(11):e716-e727. doi: 10.1542/neo.21-11-e716. PMID: 33139509
Jnah AJ, Evans SK, Sewell K, Trembath A
Neonatal Netw 2019 Nov 1;38(6):341-347. doi: 10.1891/0730-0832.38.6.341. PMID: 31712398
Shimada Y, Sato K, Abe E, Suzuki T, Ishihara Y
Spine (Phila Pa 1976) 1995 Jun 1;20(11):1295-300. doi: 10.1097/00007632-199506000-00019. PMID: 7660240
Hrabovsky E, Jones B
Am J Dis Child 1979 Jan;133(1):73-5. doi: 10.1001/archpedi.1979.02130010079015. PMID: 760517
EVANS AR
J Clin Pathol 1965 Jan;18(1):54-62. doi: 10.1136/jcp.18.1.54. PMID: 14247705Free PMC Article

Clinical prediction guides

Minakova E, Lang J
Neoreviews 2020 Nov;21(11):e716-e727. doi: 10.1542/neo.21-11-e716. PMID: 33139509
Jnah AJ, Evans SK, Sewell K, Trembath A
Neonatal Netw 2019 Nov 1;38(6):341-347. doi: 10.1891/0730-0832.38.6.341. PMID: 31712398
Starchenko II, Dyachenko LV, Prylutskyi ОK, Vynnyk NI, Filenko BM
Exp Oncol 2019 Jun;41(2):179-181. doi: 10.32471/exp-oncology.2312-8852.vol-41-no-2.13321. PMID: 31262150
Kume A, Morikawa T, Ogawa M, Yamashita A, Yamaguchi S, Fukayama M
Int J Clin Exp Pathol 2014;7(11):8198-204. Epub 2014 Oct 15 PMID: 25550872Free PMC Article
Komuro H, Imaizumi S, Hirata A, Matsumoto M, Kikuchi A, Hanada R, Yamamoto K
Pediatr Surg Int 1998 Nov;14(1-2):86-8. doi: 10.1007/s003830050444. PMID: 9880706

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