Prenatal Diagnosis of Holt-Oram Syndrome

• Autorzy: Hanna Moczulska , Maria Respondek-Liberska
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

EN

Holt-Oram syndrome; fetal echocardiography; enlargement of the right atrium; prenatal diagnosis

• Czasopismo: Prenatal Cardiology
• Rocznik: 2015
• Tom: 5
• Numer: 1
• Strony: 29-32

Daty

wydano

2015-03-01

otrzymano

2015-02-18

zaakceptowano

2015-03-19

online

2015-12-30

Twórcy

autor

Hanna Moczulska

• Department of Prenatal Cardiology, Polish Mother's Memorial Hospital Research Institute,
• Department of Genetics, Polish Mother's Memorial Hospital Research Institute

autor

Maria Respondek-Liberska

• 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

Identyfikatory

DOI

10.12847/03155