Home > D. Systemic pathology > Genetic and developmental anomalies > Marles-Chudley syndrome

Marles-Chudley syndrome

MIM.276822

Friday 3 February 2006

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#