Importance of ultrasound investigation in the early prenatal diagnosis of an Oral-Facial-Digital Syndrome Type I: a new case report
Keywords:
Oral-Facial-Digital, syndrome, ultrasound, prenatal diagnosis, mutation
Abstract
We report a case of a 29 year old female. Ultrasound examination showed a fetus with: cleft lip and cleft palate, ocular hypertelorism, polydactyly and polycystic kidney. Amniocentesis was performed and the fetal chromosomal analysis indicated a normal cytogenetic female, karyotype: 46XX. Further genetic investigations were done. After genetical counseling the parents decided to terminate the pregnancy. The autopsy confirmed the ultrasound findings.
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References
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2. Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R,Ballabio A, Franco B. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet. 2001 Mar;68(3):569-76. Epub 2001 Feb 13. [PubMed]
3. Gedeon AK, Oley C, Nelson J, Turner G, Mulley JC. Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85. Am J Med Genet. 1999 Feb 12;82(4):352-4. [PubMed]
4. Thauvin-Robinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y et al. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet 2006; 43: 54-61. [PubMed]
5. Thauvin-Robinet C, Rousseau T, Durand C, Laurent N, Maingueneau C, Faivre L, Sagot P, Nivelon-Chevallier A. Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly. Prenat Diagn. 2001 Jun;21(6):466-70.
6. Juric-Sekhar G, Adkins J, Doherty D, Hevner RF. Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia. Acta Neuropathol. 2012 May;123(5):695-709. doi: 10.1007/s00401-012-0951-2. Epub 2012 Feb 14.
7. Morleo M, Franco B. Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders. J Med Genet. 2008 Jul;45(7):401-8. doi: 10.1136/jmg.2008.058305. Epub 2008 May 7.
8. Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792.
9. Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R,Ballabio A, Franco B. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet. 2001 Mar;68(3):569-76. Epub 2001 Feb 13. [PubMed]
10. Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dollé P, Franco B. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet. 2006 Jan;38(1):112-7. Epub 2005 Nov 27. [PubMed]
11. Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):318-25. doi: 10.1002/ajmg.c.30224. [PubMed]
12. Romio L, Wright V, Price K, Winyard PJ, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA. OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. J Am Soc Nephrol. 2003 Mar;14(3):680-9. [PubMed]
13. Stoll C, Sauvage P. Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene. Ann Genet. 2002 Apr-Jun;45(2):59-62. [PubMed]
14. Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Héron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrometype 1: a French and Belgian collaborative study. J Med Genet. 2006 Jan;43(1):54-61. [PubMed]
15. Thauvin-Robinet C, Rousseau T, Durand C, Laurent N, Maingueneau C, Faivre L, Sagot P, Nivelon-Chevallier A. Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly. Prenat Diagn. 2001 Jun;21(6):466-70.
16. Toriello HV, Franco B. Oral-Facial-Digital Syndrome Type I. 2002 Jul 24 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
CITATION
DOI: 10.17511/ijmrr.2016.i01.018
Published: 2016-01-31
How to Cite
1.
Albu D-F, Albu C-C, Albu S-D. Importance of ultrasound investigation in the early prenatal diagnosis of an Oral-Facial-Digital Syndrome Type I: a new case report. Int J Med Res Rev [Internet]. 2016Jan.31 [cited 2024Nov.23];4(1):118-21. Available from: https://ijmrr.medresearch.in/index.php/ijmrr/article/view/440
Section
Case Report
OAI - Open Archives Initiative
