A case report by scientist parents of a paediatric patient diagnosed with Marfan syndrome at 24 weeks of pregnancy

Marfan syndrome (MFS, OMIM #154700) is an autosomal dominant disorder that presents a challenging diagnosis due to its wide clinical variability. The prenatal diagnosis of the syndrome is rare and often associated with unfavourable prognoses, such as early mortality. This case report, written by scientist parents, aims to document the clinical journey, management, and development of a paediatric patient diagnosed with Marfan syndrome at 24 weeks of gestation. In the immediate postpartum period, the patient did not show any severe warning signs, such as tachypnoea or prostration. The initial findings included mild dilation of the aortic and pulmonary roots, funnel chest, downward-slanting palpebral fissures, and elongated fingers. Subsequent multidisciplinary follow-up revealed motor delays, hypotonia, and orofacial alterations. Despite the repercussions of Marfan syndrome, the patient's overall health is positive, and their development is consistent with what is expected for childhood. This case report offers a humanised and multidisciplinary perspective on the patient's journey, highlighting the importance of early diagnosis, access to healthcare services, and information to redefine the course of clinical histories, offering hope to other families.