UNUSUAL TRAITS ASSOCIATED WITH ROBINOW-SYNDROME

We report on some members of two unrelated families showing the charac teristic features of Robinow syndrome. In a consanguineous Kuwaiti fam ily, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, r edundant skin folds, severe normocytic anaemia, repeated infection, in creased percentage of total T cells and CD4 positive population, reduc ed percentage of CD8 positive cells, and EMG abnormality. In a Pakista ni family with a high degree of multigenerational consanguinity, a sin gle case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis , tricuspid atresia, ASD, VSD, double outlet right ventricle, and righ t atrial isomerism. This report suggests that the disease profile of R obinow syndrome may be extended to accommodate the unusual traits ment ioned above. The association of the Robinow phenotype with congenital heart disease in case 2 of this report is consistent with the previous ly reported finding that congenital heart disease, particularly involv ing the right side of the heart, may be a prominent component of Robin ow syndrome in a subset of patients.