Ulnar agenesis and endocardial fibroelastosis

Abstract

We report on an infant with bilateral ulnar agenesis, radial hypoplasia, oligodactyly, hydrops fetalis, and endocardial fibroelastosis (EFE). The presence of the 2 major malformations and parental consanguinity suggests the possibility of a new autosomal recessive MCA syndrome.

Probable Second Fetus With Marles-Chudley Syndrome: Cardiac Calcifications With Ulnar Deficiency and Absent/Hypoplastic Thumbs

“…In preparing Table 1 on the ulnar dysgeneses (from many sources: Ogino and Kato 1988, Klausner 1900, Lewin and Opitz 1986, Frantz and O'Rahilly 1971, Straub 1965, Temtamy and McKusick 1978, Ogden et al 1976, Grebe 1964, Roth 1914, Warkany 1971, Birch-Jensen 1949, Richieri-Costa and Opitz 1986, the latest Online Mendelian Inheritance in Man-McKusick, [OMIM and MEDLINE= PubMed], we became aware of the paper by Marles and Chudley (1990) which former editor (JMO) had the good sense to publish in the AmericanJournal of Medical Genetics. These authors describe an infant boy born at 34 weeks of gestational age after spontaneous rupture of membranes and otherwise normal pregnancy.…”