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.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.

Total: 2

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PMID (PMCID)
22318985	FEMALE	Infant
	Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.
	Breckpot J, Thienpont B, Bauters M, Tranchevent LC, Gewillig M, Allegaert K, Vermeesch JR, Moreau Y, Devriendt K. Am J Med Genet A. 2012;158A(3):574-80.
	We have performed array comparative genomic hybridization in a normally developing girl with growth delay, microcephaly, and truncus arteriosus, and have identified a novel recurrent 22q11 deletion that spans LCR22-4 and partially affects the common 22q11.2 deletion syndrome and the distal 22q11 deletion syndrome.
6982660	MIXED_SAMPLE	Infant, Newborn
	Terminal deletion of the long arm of chromosome 10 : q26 to qter. Case report and review of literature.
	Taysi K, Strauss AW, Yang V, Padmalatha C, Marshall RE. Ann Genet. 1982;25(3):141-4.
	The clinical findings in the patient included intrauterine growth retardation, microcephaly, truncus arteriosus type 1, respiratory distress and craniofacial dysmorphism.