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.
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Bibliographic citation
-
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)
- Creator
- DOI
-
10.1515/crpm-2021-0058
- URN
-
urn:nbn:de:101:1-2022071514182399513913
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:20 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Foreste, Virginia
- Riccardi, Carla
- Zizolfi, Brunella
- Gallo, Alessandra
- Di Spiezio Sardo, Attilio
Other Objects (12)
Prenatal diagnosis of amniotic band syndrome
Prenatal Diagnosis of Loeys–Dietz Syndrome
Prenatal diagnosis of thrombocytopenia-absent radius syndrome
Prenatal Diagnosis of Gómez-López-Hernández Syndrome
Prenatal diagnosis of congenital high airway obstruction syndrome
A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
Prenatal diagnosis of Caudal Regression Syndrome : a case report
Prenatal diagnosis of Neu-Laxova syndrome: a case report
Prenatal Diagnosis and Fetal Sonographic Features of Swyer Syndrome
Prenatal diagnosis of nail patella syndrome: A case report
Prenatal diagnosis and management of Van der Woude syndrome
Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples
Prenatal diagnosis of amniotic band syndrome
Prenatal Diagnosis of Loeys–Dietz Syndrome
Prenatal diagnosis of thrombocytopenia-absent radius syndrome
Prenatal Diagnosis of Gómez-López-Hernández Syndrome
Prenatal diagnosis of congenital high airway obstruction syndrome
A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
Prenatal diagnosis of Caudal Regression Syndrome : a case report
Prenatal diagnosis of Neu-Laxova syndrome: a case report
Prenatal Diagnosis and Fetal Sonographic Features of Swyer Syndrome
Prenatal diagnosis of nail patella syndrome: A case report
Prenatal diagnosis and management of Van der Woude syndrome
Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples
Prenatal diagnosis of amniotic band syndrome
Prenatal Diagnosis of Loeys–Dietz Syndrome
Prenatal diagnosis of thrombocytopenia-absent radius syndrome
Prenatal Diagnosis of Gómez-López-Hernández Syndrome
Prenatal diagnosis of congenital high airway obstruction syndrome
A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
Prenatal diagnosis of Caudal Regression Syndrome : a case report
Prenatal diagnosis of Neu-Laxova syndrome: a case report
Prenatal Diagnosis and Fetal Sonographic Features of Swyer Syndrome
Prenatal diagnosis of nail patella syndrome: A case report
Prenatal diagnosis and management of Van der Woude syndrome