BILATERALLY CLEFT-LIP, LIMB DEFECTS, AND HEMATOLOGICAL MANIFESTATIONS- ROBERTS-SYNDROME VERSUS TAR SYNDROME

We report on a 13-year-old patient followed since birth. He is the onl y offspring of young, non-consanguineous German parents, His mother ha s an isolated left cleft of lip and a cleft palate. At birth, our pati ent presented with bilaterally cleft lip/cleft palate, phocomelia of u pper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as int ermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non- random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syn drome (MIM 274000), Such clinical constellations may be key observatio ns to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations. (C) 1998 Wiley-Lis s, Inc.