TAR Syndrome, a Rare Case Report with Cleft Lip/Palate

Abstract

TAR (Thrombocytopenia-Absent Radius) is a clinicallydefined syndrome characterized by hypomegakarocytic thrombocytopenia and bilateral absence of radius in the presence of both thumbs . We describe a female neonate as a rare case of TAR syndrome with orofacial cleft. Bone marrow aspiration of the patient revealed a cellular marrow with marked reduction of megakaryocytes. Our clinical observation is consistent with TAR syndrome. However, other syndromes with cleft lip/palate and radial aplasia like Roberts syndrome (tetraphocomelia), Edwards syndrome and Fanconi and sc phocomelia (which has less degree of limb reduction) should be considered. Our cytogenetic study excludes other overlapping chromosomal syndromes. RBM8A analysis may reveal nucleotide alteration, leading to definite diagnosis. Our objective is adding this cleft lip and cleft palate to the literature regarding TAR syndrome. - Eva Klopocki, Harald Schulz, Gabriele Straub,Judith Hall,Fabienne Trotier, et al(February 2007) ;Complex inheritance pattern Resembeling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia-Absent Radius Syndrome.The American Journal of Human Genetics 80:232-240