Czasopismo
Tytuł artykułu
Warianty tytułu
Języki publikacji
Abstrakty
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.
Czasopismo
Rocznik
Tom
Numer
Strony
29-32
Opis fizyczny
Daty
wydano
2015-03-01
otrzymano
2015-02-18
zaakceptowano
2015-03-19
online
2015-12-30
Twórcy
autor
- 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
autor
- Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute
- Department of Diagnoses and Prevention Fetal Malformations Medical University of Lodz, Poland
Bibliografia
- 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
Typ dokumentu
Bibliografia
Identyfikatory
DOI
Identyfikator YADDA
bwmeta1.element.-psjd-doi-10_12847_03155