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2015 | 5 | 1 | 29-32
Article title

Prenatal Diagnosis of Holt-Oram Syndrome

Content
Title variants
Languages of publication
EN
Abstracts
EN
Holt-Oram syndrome is a rare genetic syndrome, characterized by upper limb anomalies and congenital heart defects. The overall prenatal detection rate is low. We report a case of fetus with Holt-Oram syndrome with the current review of the literature.
Publisher

Year
Volume
5
Issue
1
Pages
29-32
Physical description
Dates
published
1 - 3 - 2015
received
18 - 2 - 2015
accepted
19 - 3 - 2015
online
30 - 12 - 2015
Contributors
  • Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute, hanna.moczulska@op.pl
  • Department of Genetics, Polish Mother's Memorial Hospital Research Institute
  • Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute
  • Department of Diagnoses and Prevention Fetal Malformations Medical University of Lodz, Poland
References
  • 1. Barisic I, Boban L, Greenlees R, Garne E, Wellesley D, Calzolari E, Addor MC, Arriola L, Bergman JE, Braz P, Budd JL, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, McDonnell B, Nelen V, Pierini A, Queisser-Wahrendorf A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen- Dumoulin C, Dolk H.: Holt-Oram syndrome: a registrybased study in Europe. Orphanet J Rare Dis. 2014, 25: 9:156 .[WoS][Crossref]
  • 2. Brons JT, van Geijn HP, Wladimiroff JW, van der Harten JJ, Kwee ML, Sobotka-Plojhar M, Arts NF.: Prenatal ultrasound diagnosis of the Holt-Oram syndrome. Prenat Diagn. 1988, 3 (8): 175-181
  • 3. Law KM, Tse KT.: Prenatal sonographic diagnosis of familial Holt-Oram syndrome associated with type B interrupted aortic arch. Hong Kong Med J. 2008, 4 (14): 317-320
  • 4. GeneReviews http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245183/#CR27
  • 5. Sunagawa S, Kikuchi A, Sano Y, Kita M, Ono K, Horikoshi T, Takagi K, Kawame H.: Prenatal diagnosis of Holt-Oram syndrome: role of 3-D ultrasonography. Congenit Anom (Kyoto) 2009, 1 (49): 38-41
  • 6. Sepulveda W, Enriquez G, Martinez JL, Mejia R.: Holt-Oram syndrome: contribution of prenatal 3-dimensional sonography in an index case. J Ultrasound Med. 2004, 23(7): 983-987
  • 7. Paladini D, Tiesi M, Buffi D, Tuo G, Marasini M.: Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus. Ultrasound Obstet Gynecol. 2014, 4 (43): 475-476
Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.-psjd-doi-10_12847_03155
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