Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review.

ABSTRACT:

Background

Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final diagnosis cannot be made until pathology is completed after birth. Here, we present a case of disseminated form IM (DFIM) with a diagnosis established on prenatal genetic grounds.

Case presentation

A woman at 23 weeks of gestation was referred for ultrasound evaluation of fetal kidney abnormality. Generalized masses in the skin and muscle of the fetus developed at 28 weeks. Prenatal genetic testing identified the pathogenic heterozygous variant c.1681C > T (p.R561C) of the PDGFRB gene inherited from the asymptomatic father. Intrauterine demise occurred at 31 w

SUBMITTER: Lu Y 

PROVIDER: S-EPMC10416477 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature