Endocardial fibroelastosis

Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.

Oligodactyly

A developmental defect resulting in the presence of fewer than the normal number of digits.

Total: 2

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PMID (PMCID)
15768861	FEMALE	Adult
	Probable second fetus with Marles-Chudley syndrome: cardiac calcifications with ulnar deficiency and absent/hypoplastic thumbs.
	Wada DA, Szakacs J, Kennedy AM, Hafen BL, Opitz JM, Byrne JL. Fetal Pediatr Pathol. 2004;23(2-3):159-70.
	In 1990 Marles and Chudley reported on an infant with absent ulnae and concomitant radial hypoplasia, oligodactyly, hydropsfetalis, and apparent endocardial fibroelastosis (EFE) and, on the basis of phenotype and parental consanguinity, postulated autosomal recessive inheritance.
2248295	MALE
	Ulnar agenesis and endocardial fibroelastosis.
	Marles SL, Chudley AE. Am J Med Genet. 1990;37(2):258-60.
	We report on an infant with bilateral ulnar agenesis, radial hypoplasia, oligodactyly, hydrops fetalis, and endocardial fibroelastosis (EFE).