Neonate with Microphthalmia, Cleft Lip and Palate, Omphalocele, Polydactyly, Atrial Septal Defect and Patent Ductus Arteriosus: A Likely Case of Patau Syndrome
DOI:
https://doi.org/10.70844/jmhrp.2025.2.1.36Keywords:
Patau syndrome, Trisomy 13, Congenital anomalies, Cleft lip and palate, Omphalocele, Postaxial polydactyly, Atrial Septal Defect (ASD), Patent Ductus Arteriosus (PDA), Neonatal surgery, Genetic disorders, Chromosomal abnormalities, Craniofacial anomalies, Multidisciplinary care, Neonatal outcomes, Family counseling, Pediatric congenital disorders, Abdominal wall defects, Microphthalmia, Cardiac anomalies, Rural healthcare, Yemen case reportAbstract
This report describes a one-day-old female neonate presenting with multiple congenital anomalies, including bilateral microphthalmia, cleft lip and palate, omphalocele, unilateral polydactyly, Atrial Septal Defect (ASD), and Patent Ductus Arteriosus (PDA). The omphalocele was surgically repaired shortly after birth. These features are characteristic of Patau syndrome (Trisomy 13), a rare chromosomal disorder caused by an extra copy of chromosome 13. Genetic testing is ongoing to confirm the diagnosis. This case underscores the importance of early recognition, multidisciplinary care, and family counseling for neonates with severe congenital malformations.
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Published
2025-02-06
How to Cite
Algutaini, S. A., & Sreiwy , A. A. (2025). Neonate with Microphthalmia, Cleft Lip and Palate, Omphalocele, Polydactyly, Atrial Septal Defect and Patent Ductus Arteriosus: A Likely Case of Patau Syndrome. Journal of Medical Health Research and Psychiatry, 2(1), 1–3. https://doi.org/10.70844/jmhrp.2025.2.1.36