Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.

ABSTRACT:

Background

Delays in diagnosing rare genetic disorders often arise due to limited awareness and systemic challenges in primary care. This case highlights the importance of a holistic approach to patient care, encompassing timely detection and comprehensive evaluation of clinical features.

Methods

We report the case of a 21-year-old Ecuadorian male with facial and hand dysmorphias, cardiomegaly, pulmonary hypertension, and patent ductus arteriosus (PDA). Whole-exome sequencing, performed using the Illumina NextSeq platform. We extensively analyzed over 100 genes linked to congenital structural heart diseases.

Results

The genetic findings provided a definitive diagnosis of Craniofacial-Deafness-Hand Syndrome, an extremely rare autosomal dominant condition, but found no

SUBMITTER: Saenz Hinojosa S 

PROVIDER: S-EPMC11754966 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature