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.

Adactyly

The absence of all phalanges of all the digits of a limb and the associated soft tissues.


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(per page)
PMID (PMCID)
25898814
(4896393)
 MIXED_SAMPLE Infant, Newborn
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
Esplin ED, Chaib H, Haney M, Martin B, Homeyer M, Urban AE, Bernstein JA.
Am J Med Genet A. 2015;167(6):1360-4.
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
25898814
(4896393)
 MIXED_SAMPLE Infant, Newborn
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
Esplin ED, Chaib H, Haney M, Martin B, Homeyer M, Urban AE, Bernstein JA.
Am J Med Genet A. 2015;167(6):1360-4.
The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly.