Marles-Chudley syndrome
MIM.276822
Autosomal recessive inheritance
Synopsis
ulnar agenesis (absent ulnae)
ulnar dysgenesis
concomitant radial hypoplasia
oligodactyly
hydrops fetalis
endocardial fibroelastosis (EFE)
cardiac calcifications
micrognathia
See also
upper limb development
cardiac histogenesis
References
Wada DA, Szakacs J, Kennedy AM, Hafen BL, Opitz JM, Byrne JL. Probable second fetus with Marles-Chudley syndrome: cardiac calcifications with ulnar deficiency and absent/hypoplastic thumbs. Fetal Pediatr Pathol. 2004 Mar-Jun;23(2-3):159-70. PMID: #15768861#
Marles, S. L.; Chudley, A. E. Ulnar agenesis and endocardial fibroelastosis. Am. J. Med. Genet. 37: 258-260, 1990. PubMed ID : #2248295#