A. Megarbane et al., 4 SIBS WITH DISLOCATED ELBOWS, BOWED TIBIAE, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL-RETARDATION - A NEW MCA MR SYNDROME/, Journal of Medical Genetics, 35(9), 1998, pp. 755-758
We report four sibs with an MCA/MR syndrome whose parents were first c
ousins. The sibs had mental retardation, microcephaly, hearing problem
s, cataract, and multiple osseous malformations, such as dislocated el
bows, bowed tibiae, and scoliosis. Review of published reports and the
use of the London Dysmorphology Database suggest that this family pre
sents a new syndrome.