Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Rita Xu + 641 word(s) 641 2020-12-15 07:34:08

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, R. Otopalatodigital Syndrome Type 2. Encyclopedia. Available online: https://encyclopedia.pub/entry/4853 (accessed on 28 September 2026).
Xu R. Otopalatodigital Syndrome Type 2. Encyclopedia. Available at: https://encyclopedia.pub/entry/4853. Accessed September 28, 2026.
Xu, Rita. "Otopalatodigital Syndrome Type 2" Encyclopedia, https://encyclopedia.pub/entry/4853 (accessed September 28, 2026).
Xu, R. (2020, December 24). Otopalatodigital Syndrome Type 2. In Encyclopedia. https://encyclopedia.pub/entry/4853
Xu, Rita. "Otopalatodigital Syndrome Type 2." Encyclopedia. Web. 24 December, 2020.
Otopalatodigital Syndrome Type 2
Edit

Otopalatodigital syndrome type 2 is a disorder primarily involving abnormalities in skeletal development.

genetic conditions

References

  1. Batra P, Ryan FS, Witherow H, Calvert ML. Distraction in a case ofotopalatodigital syndrome type II. Int J Paediatr Dent. 2006 Jul;16(4):286-91.
  2. Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI. Otopalatodigitalsyndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical,pathological, and molecular findings. Am J Med Genet A. 2007 May15;143A(10):1120-5.
  3. Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C,Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P,Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Otopalatodigitalspectrum disorders: refinement of the phenotypic and mutational spectrum. J HumGenet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37.
  4. Murphy-Ryan M, Babovic-Vuksanovic D, Lindor N. Bifid tongue, corneal clouding,and Dandy-Walker malformation in a male infant with otopalatodigital syndrometype 2. Am J Med Genet A. 2011 Apr;155A(4):855-9. doi: 10.1002/ajmg.a.33901.
  5. Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C,Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, CordierMP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P.Fetal phenotypes in otopalatodigital spectrum disorders. Clin Genet. 2016Mar;89(3):371-7. doi: 10.1111/cge.12679.
  6. Robertson S. X-Linked Otopalatodigital Spectrum Disorders. 2005 Nov 30[updated 2019 Oct 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1393/
  7. Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, SchwartzCE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum DisordersClinical Collaborative Group. Localized mutations in the gene encoding thecytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr;33(4):487-91.
  8. Robertson SP. Otopalatodigital syndrome spectrum disorders: otopalatodigitalsyndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.Eur J Hum Genet. 2007 Jan;15(1):3-9.
More
Upload a video for this entry
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 757
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes No
Academic Video Service