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An infant with patau syndrome associated with congenital heart defects
Ubaid Khan1, Ahmad Hussain1, Muhammad Usman1
1Department of Medicine, King Edward Medical University Lahore, Pakistan.
Insights
Patau syndrome, or trisomy 13, is a severe genetic condition with a poor prognosis. This case highlights common Patau syndrome features like cleft lip/palate and congenital heart defects, emphasizing the need for genetic counseling.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- Patau syndrome (trisomy 13) is a severe genetic disorder with high infant mortality.
- The condition is characterized by multiple congenital anomalies.
- Early diagnosis and intervention are crucial but often yield a poor prognosis.
Observation:
- A two-day-old male infant diagnosed with Patau syndrome presented with cleft palate, cleft lip, and congenital clubfoot.
- A pansystolic murmur indicated significant congenital heart abnormalities.
- The infant required surgical intervention for patent ductus arteriosus (PDA), ventricular septal defect (VSD), and atrial septal defect (ASA).
Findings:
- Consistent with Patau syndrome literature, the patient exhibited cleft lip and palate, and congenital heart defects.
- Cardiac abnormalities, including PDA, VSD, and ASA, are frequently reported in up to 80% of trisomy 13 cases.
- Dysmorphic features and limb impairments are characteristic manifestations.
Implications:
- This case underscores the typical clinical presentation of Patau syndrome.
- Highlights the critical need for early detection and management of associated cardiac defects.
- Emphasizes the importance of genetic counseling for families affected by trisomy 13 to improve awareness and understanding of the diagnosis and its implications.
Introduction:
and background: Patau syndrome or trisomy 13 is a clinically severe condition; 85 percent of patients die before reaching the age of one year, and the majority of children die before reaching the age of six months.
Case Presentation:
This report discusses a case of a male infant, two days old diagnosed with Patau syndrome. After birth, his APGAR score was satisfactory. The initial clinical examination revealed cleft palate, cleft lip, and congenital clubfoot. A pansystolic murmur was heard at the left sternal border. The patient was managed according and was referred to a surgeon for pulmonary binding, PDA ligation, VSD closure, and repair of ASA with disbanding of the pulmonary artery.
Clinical Discussion:
Studies have reported that patients with Patau syndrome present with cleft lip and palate, congenital heart defects, omphalocele, and holoprosencephaly. we also discovered dysmorphic characteristics such as the cleft palate and cleft lip, as well as serious congenital cardiac abnormalities. In addition, up to 80% of patients have been documented to have cardiac abnormalities, with patent ductus arteriosus, atrial septal defect, and ventricular septal defect.
Conclusion:
Patau syndrome is the third most common trisomy found in infants. The clinical manifestation of Patau syndrome includes cleft palate, cleft lip, limb impairments, and congenital heart problems. Despite the fact that early diagnosis and management prognosis is poor for patients suffering from Patau syndrome. Genetic counseling may be beneficial not just for increasing awareness of the diagnosis and its implications.
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