Truncus arteriosus

Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (<I>i.e.</I> truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).

Total: 3

(per page)

PMID (PMCID)
29843537	MIXED_SAMPLE	Adult
	Antenatal Diagnosis of Fetal Retinoid Syndrome at 20 Weeks of Gestation: A Case Report.
	Erenel H, Ozel A, Oztunc F, Kizilkilic O, Comunoglu N, Uludag S, Madazli R. Fetal Pediatr Pathol. 2018;37(4):282-286.
	Ultrasound examination revealed hypertelorism, cerebellar hypoplasia, vermian agenesis, truncus arteriosus, anotia, thymic aplasia, corpus callosum hypoplasia.
24357125	MIXED_SAMPLE	Infant
	Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.
	Oehl-Jaschkowitz B, Vanakker OM, De Paepe A, Menten B, Martin T, Weber G, Christmann A, Krier R, Scheid S, McNerlan SE, McKee S, Tzschach A. Am J Med Genet A. 2014;164A(3):620-6.
	While some clinical problems such as intestinal malrotation, cryptorchidism, and ectopic kidney were only observed in single patients, all three patients had mild intellectual disability, congenital heart defects (truncus arteriosus, pulmonary atresia, atrial septal defect, and/or ventricular septal defect), brachydactyly, hypertelorism, broad nasal bridge, and thin upper lips.
20949503	MIXED_SAMPLE	Infant, Newborn
	Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome.
	Dundar M, Kiraz A, Tasdemir S, Akalin H, Kurtoglu S, Hafo F, Cine N, Savli H. Am J Med Genet A. 2010;152A(11):2791-5.
	Clinical features include short stature, hypertelorism, low set ears, cleft lip with cleft palate, short neck, truncus arteriosus, micropenis, clubfoot, over riding toes on right foot, four digits on left foot and growth delay.