This study evaluated audiological and electrophysiological profiles in 13 patients with holoprosencephaly. All patients had imaging evaluation by magnetic resonance imaging and molecular screening for the genes SHH, GLI2, and SIX3. Each patient underwent clinical (otological and vestibular antecedents, otoscopy) and instrumental (tympanometry, auditory brainstem response-ABR) evaluation to compare hearing and the electrophysiological profile possibly occurring in patients with these mutations. To our knowledge there are no systematic studies correlating molecular/ imaging and evoked potentials in patients with HPE. Here, we discuss the audiological and electrophysiological profiles of patients and the possible role of the genes studied on the overall findings. ß 2006 Wiley-Liss, Inc.

Front onasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs. No systematic studies describing hearing in this condition were found. Aim:To evaluate hearing sensitivity and sound stimulus conduction from cochlea to brainstem in patients with clinical signs of FND.Methods: 21 patients with isolated or syndromic FND were submitted to a clinical (otological/ vestibular antecedents and otoscopy) and instrumental (pure tone and speech audiometry, tympanometry and brainstem auditory evoked response) hearing evaluation.Design: A clinical, cross-sectional observational prospective study. Results:Hearing thresholds were normal in 15 (70%) patients, abnormal in 5 (25%), mostly with conductive hearing loss; one patient did not cooperate with testing. The tympanometric curve was type A in 30 (72%) ears, type C in 5 (12%), type As in 4 (9%) and type B in 3 (7%). The auditory brainstem response (ABR) showed no abnormalities. Conclusion:Patients with FND showed no abnormalities in the auditory system from cochlea to brainstem in this study. Mild conductive hearing loss found in some is probably related to cleft palate. Further evaluation of hearing pathways at higher levels is recommended. Braz J Otorhinolaryngol. 2011;77(5):611-5. ORIGINAL ARTICLE BJORL

Congenital malformations involving the face, oral cavity, and digits are the main findings in the oro-facio-digital (OFD) syndromes. Various eye anomalies and central nervous system involvement have also been reported in this condition. Here we report on a Brazilian boy with features belonging to the clinical spectrum of the OFD syndromes. He also had additional findings of periventricular nodular heterotopia (PVNH), asymmetric limb involvement, and microphthalmia. This unusual pattern of anomalies has not been reported previously and appears to be unique.

porque depois de muitos dias o acharás.Reparte com sete, e ainda até com oito, porque não sabes que mal haverá sobre a terra. Ao meu querido "chefe", Dr. Richieri, que abraçou este trabalho e me deu a oportunidade maravilhosa de conviver diariamente com uma das pessoas que mais admiro. Agradeço infinitamente pelo privilégio de ter seu nome em meus trabalhos, de tê-lo tido como chefe do setor onde desenvolvi esse trabalho, de sempre ter aprendido com ele muito mais do que eu esperava.À minha pequena grande amiga, Dr a Lucilene Arilho Ribeiro, por ter idealizado a pesquisa com Holoprosencefalia, tornando impossível não dizer que, sem sua dedicação, esse trabalho não existiria. Muito mais que isso, devo agradecê-la pelas horas intermináveis de conversa, das quais sobrevinham ora lágrimas ora boas risadas.Por detrás dessa face meiga e desse porte delicado, esconde-se uma pessoa forte, determinada e equilibrada; por isso devo dizer que é um privilégio tê-la como amiga e ter desfrutado de sua companhia numa fase que tanto necessitei. Ela trouxe, além de valiosos conhecimentos, muita alegria e união ao nosso ambiente de trabalho, tornando a realização desse estudo não só mais fácil como muito mais prazerosa.

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