01 January 2005
A case of univentricular heart associated with trisomy 13
Ridvan Duran, Ülfet Vatansever, Betül Acunas, Fulya Öz PuyanCase Rep Clin Pract Rev 2005; 6:230-232 :: ID: 428467
Abstract
Background: Trisomy 13 (Patau Syndrome) occurs in approximately 1 in 5.000 live births. It is rarely compatible with life, and prolonged survival is scarce. Anomalies often involve the urogenital, cardiac, craniofacial, and central nervous systems. Cardiovascular malformations are invariably present,
the leading malformation being an infundibular ventricular septal defect often in combination
with dextroposition of the aorta and abnormalities of the semilunar valves.
Case Report: We report a male newborn infant with wide saggital suture and anterior fontanel (3X4 cm); short neck; low-set hairline and auricles; bilateral microphthalmos; cleft palate; 11 localized scalp lesions in the parietal region; bilateral polydactyly; hyperconvex, narrow fingernails; bilateral transverse crease on the palm; posterior prominence of the heel; hypoplastic toenails; equinovarus deformity; fibular S-shaped hallucal dermal ridge pattern; single umbilical artery and cavernous hemangiomata; left inguinal hernia; abnormal scrotum and bilateral cryptorchidism. On
his autopsy he had univentricular atrioventricular (AV) connexion. He diagnosed as trisomy 13 on clinical grounds and chromosomal analysis. We lost him at the end of the second day because of severe apnea-bradycardia.
Conclusions: To our knowledge, univentricular AV connexion associated with trisomy 13 has not been previously described.
Keywords: trisomy 13, cardiac defects, univentricular atrioventricular connexion
0
In Press
12 Feb 2024 : Case report
Diagnostic Challenges and Imaging Considerations for Intraparotid Facial Nerve Schwannoma: A Case Report an...Am J Case Rep In Press; DOI: 10.12659/AJCR.942870
12 Feb 2024 : Case report
Erdheim-Chester Disease Occult on Radiographs and CT but Visible on MRI and PETAm J Case Rep In Press; DOI: 10.12659/AJCR.941169
12 Feb 2024 : Case report
Surgical Treatment of Spontaneous Superficial Temporal Artery Arteriovenous Malformation: A Case ReportAm J Case Rep In Press; DOI: 10.12659/AJCR.942839
13 Feb 2024 : Case report
Warfarin Woes: A Rare Case of Hemoperitoneum with Intramural Small Bowel HematomaAm J Case Rep In Press; DOI: 10.12659/AJCR.943519
Most Viewed Current Articles
10 Jan 2022 : Case report
A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...DOI :10.12659/AJCR.935263
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case report
Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19DOI :10.12659/AJCR.936128
Am J Case Rep 2022; 23:e936128
05 Mar 2022 : Case report
Acute Limb Ischemia After Self-Injection of Crushed Morphine Tablets into the Radial Artery: Role of Infrar...DOI :10.12659/AJCR.935336
Am J Case Rep 2022; 23:e935336
02 Apr 2022 : Case report
Infective Endocarditis Caused by Pseudomonas luteola in a Pediatric Patient. A Case Report and Review of Li...DOI :10.12659/AJCR.935743
Am J Case Rep 2022; 23:e935743