Prenatal diagnosis of Holt-Oram syndrome.

ABSTRACT:

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 mutati

SUBMITTER: Foreste V 

PROVIDER: S-EPMC11800680 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature