Prenatal diagnosis of Holt-Oram syndrome
Objectives: To detect common congenital disorders in Holt-Oram syndrome. Case presentation: We present a case of a 32 years old primigravida pregnant woman affected by Holt-Oram syndrome referred to our institution for second trimester routine anatomy scan. The ultrasound reported a bilateral aplasia radii, slightly curved ulna and bilateral twisted hand with four digital rays. A significant enlargement of the right atrium without tricuspid regurgitation was also detected. The patient refused the amniocentesis and the postnatal evaluation confirmed the diagnosis of Holt-Oram syndrome. Conclusions: Holt-Oram syndrome is an autosomal dominant genetic condition. It is characterized by abnormalities in the bones of the upper limb and congenital heart malformation. The mutation can be inherited, but most cases result from a new mutation in patients without family history of the disorder.
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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Prenatal diagnosis of Holt-Oram syndrome ; volume:11 ; number:1 ; year:2022 ; extent:03
Case reports in perinatal medicine ; 11, Heft 1 (2022) (gesamt 03)
- Urheber
- DOI
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10.1515/crpm-2021-0058
- URN
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urn:nbn:de:101:1-2022071514182399513913
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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15.08.2025, 07:20 MESZ
Datenpartner
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Foreste, Virginia
- Riccardi, Carla
- Zizolfi, Brunella
- Gallo, Alessandra
- Di Spiezio Sardo, Attilio
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