RT Journal Article
SR Electronic
T1 Robinow syndrome without mesomelic 'brachymelia': a report of five cases.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 350
OP 354
DO 10.1136/jmg.23.4.350
VO 23
IS 4
A1 M D Bain
A1 R M Winter
A1 J Burn
YR 1986
UL http://jmg.bmj.com/content/23/4/350.abstract
AB A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic brachymelia and dwarfism and the other with generalised shortening of the limbs. An attempt is also made to distinguish between the phenotype of autosomal dominant and recessive cases on the basis of the familial cases in this paper and other reported cases.