Bohring-Opitz Syndrome or C Syndrome spectrum? Report of a Brazilian case. F. B. Piazzon1,3, M. F. F. Soares2, V. F. A. Meloni1 1) Centro de Genética Médica, Universidade Federal de Sao Paulo - UNIFESP, Sao Paulo, Sao Paulo, Brazil; 2) Departamento de Diagnóstico por Imagem, Universidade Federal de Sao Paulo - UNIFESP, Sao Paulo, Sao Paulo, Brazil; 3) Instituto de Genética e Erros Inatos do Metabolismo - IGEIM / UNIFESP, Sao Paulo, Sao Paulo, Brazil.

   Introduction: Bohring et al. [1999] reported a new syndrome in 4 unrelated patients with specific features. Two prior, very similar cases with this new entity were reported in 1975 by Oberklaid and Danks then described as Opitz trigonocephaly (OMIM #211750). The new syndrome consisted of bulging forehead over the metopic suture, frontal nevus flammeus, hypertelorism, exophthalmos or even prominent eyes, upslanting palpebral fissures, and cleft palate and/or lip, as well as flexion deformities of the upper limbs, multiple other anomalies, and severe failure to thrive. In 2000, more cases were characterized and Bohring-Opitz was chosen to name this syndrome (OMIM #605039). Objectives: to describe a 6-month-brazilian girl with the present diagnostic hypothesis. Materials and methods: clinical follow-up with anamnesis and physical examination; subsidiary exams and photographic documentation. Results: in the first appointment the girl was 2 months old, an investigation for the trigonocephaly was initiated; cleft palate, cardiac murmur and other dysmorphic features were also present. The patient had microcephaly with trigonocephaly, exophthalmos, upslanting palpebral fissures and typical deformities on her hands and feet. Global development was delayed. She was fed through a G-tube, which strongly contributed to the failure to thrive. Conclusion: Because of close similarity between both syndromes, Bohring-Opitz syndrome is considered the more severe form of the Opitz trigonocephaly (C syndrome), therefore known as C-like syndrome. This similarity became more plausible, after the discovery of the involvement of a mutation in the TACTILE gene, located at 3q13.3, which encodes the CD96 immunoglobulin, in Bohring-Opitz or C Syndrome patients, that is why it has been suggested that both syndromes can be part of the same clinical spectrum of Opitz trigonocephaly.