BLEFAROFIMOSIS, PALADAR HENDIDO Y CARDIOPAT\ucdA CONG\uc9NITA ASOCIADA A D\uc9FICIT COGNITIVO, S\ucdNDROME DE BLEFAROFIMOSIS TIPO OHDO

El S\uedndrome Blefarofimosis tipo Ohdo est\ue1 constituido por m\ufaltiples malformaciones cong\ue9nitas, entre ellas; blefarofimosis, ptosis palpebral e hipoplasia dental, adem\ue1s de retardo en el crecimiento, discapacidad intelectual y auditiva. Se presenta el caso de una escolar femenina, de 11 a\uf1os que presenta dismorfias faciales entre las que destaca blefarofimosis y paladar hendido. Presenta, adem\ue1s, antecedentes de cardiopat\ueda cong\ue9nita y retardo global del desarrollo, de padres aparentemente sanos, los cuales niegan isonimia. Se discuten los hallazgos y se comparan las caracter\uedsticas de la paciente con respecto a la bibliograf\ueda. Se han descrito menos de 30 pacientes en todo el mundo, lo cual hace el diagnostico de este s\uedndrome un hallazgo interesante. La sospecha diagn\uf3stica en vida intrauterina o temprana es fundamental para disminuir repercusiones en la calidad y esperanza de vida de los pacientes, la importancia de hacer un diagn\uf3stico temprano conlleva oportunamente al asesoramiento gen\ue9tico y multidisciplinario pertinente. Palabras clave: blefarofimosis, paladar hendido, discapacidad intelectual. ABSTRACT The Ohdo blepharophimosis syndrome is constituted by multiple congenital malformations, among them; Blepharophimosis, palpebral ptosis and dental hypoplasia, as well as retarded growth, intellectual and auditory disability. We present the case of an 11 - year - old schoolgirl with facial dysmorphia, including Blepharophimosis and Cleft Palate. It also presents antecedents of congenital heart disease and global developmental delay, of apparently healthy parents, who deny isonimia. The findings are discussed and the characteristics of the patient compared to the literature are compared. Fewer than 30 patients have been described worldwide, making the diagnosis of this syndrome an interesting finding. Diagnostic suspicion in intrauterine or early life is essential to reduce the impact on quality and life expectancy of patients, the importance of making an early diagnosis leads timely to relevant genetic and multidisciplinary advice. Key words: blepharophimosis, cleft palate, intellectual disability.