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.

Parathyroid hypoplasia

Developmental hypoplasia of the parathyroid gland.

Total: 2

(per page)

PMID (PMCID)
2667458	FEMALE	Infant, Newborn
	Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.
	Dallapiccola B, Marino B, Giannotti A, Valorani G. Ann Genet. 1989;32(2):92-6.
	Partial monosomy of 22q, resulting from a de novo unbalanced translocation t(X;22)(q28;q11) was detected in a newborn female with manifestations of the DiGeorge anomaly including multiple anomalies, type I truncus arteriosus, T-cell abnormalities, thymic aplasia and parathyroid hypoplasia noted on postmortem examination.
6693120	MIXED_SAMPLE	Infant
	Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.
	Greenberg F, Crowder WE, Paschall V, Colon-Linares J, Lubianski B, Ledbetter DH. Hum Genet. 1984;65(4):317-9.
	The family history revealed a previous sib with Type I truncus arteriosus, thymic aplasia, and parathyroid hypoplasia noted on postmortem examination, consistent with DiGeorge syndrome.