Radioulnar Synostosis, Radial Ray Abnormalities, And Severe Malformations In The Male

Manouvrier et al. (2000) described a possibly X-linked dominant syndrome of radioulnar synostosis and radial ray abnormalities with severe malformations in the male and milder features in females. A male fetus of 14 weeks' gestation had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. The females, who were judged to be heterozygous carriers, were in 3 generations. The mother of the proband fetus had radioulnar synostosis and bilateral triphalangeal thumb. A female first cousin of the proband fetus had bilateral thumb aplasia and moderate brachymesophalangy of the fifth fingers. The maternal grandmother of the proband fetus had bilateral radioulnar synostosis, right I-II syndactyly, and left triphalangeal thumb.