RT Journal Article
SR Electronic
T1 Orofaciodigital syndrome with mesomelic limb shortening.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 189
OP 192
DO 10.1136/jmg.21.3.189
VO 21
IS 3
A1 J Burn
A1 C Dezateux
A1 C M Hall
A1 M Baraitser
YR 1984
UL http://jmg.bmj.com/content/21/3/189.abstract
AB Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Homozygosity for a recessive gene defect is probable. The phenotype resembles, but is distinct from, the orofaciodigital syndromes delineated to date. We suggest that this condition be labelled OFD IV.