Tricuspid atresia

Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV, see this term), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)(see these terms).

Micrognathia

Developmental hypoplasia of the mandible.

Total: 1

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PMID (PMCID)
6974525	MIXED_SAMPLE	Infant, Newborn
	Terminal deletion of the long arm of chromosome 4. Report of a case of 46, XY, del(4)(q31) and review of 4q- syndrome.
	Yu CW, Chen H, Baucum RW, Hand AM. Ann Genet. 1981;24(3):158-61.
	The infant had hypertelorism, epicanthal folds, depressed nasal bridge, short nasal septum with upturned nose, bilateral open cleft lip and palate, retro- and micrognathia, low set, malformed ear, short neck, distally placed nipples, a sacral dimple, hypospadias, dysplastic nails, overriding toes, simian creases, patterns on interdigital and hypothenar areas, hypoplasia of gallbladder, and cardiac defects consisting of tricuspid atresia, left sided vena cava and anomalous aortic arch.