iosr-JDMS   Volume-12 ~ Issue-2

Abstract: Treacher- Collins Syndrome (TCS) is a rare autosomal dominant disorder of craniofacial morphogenesis. The frequency of TCS is 1 in 50,000 live births. Approximately half of cases arise as a result of sporadic mutation; the rest are familial. TCS is caused by a mutation in a TCOFI gene on chromosomes 5q31.3-32. The severely affected persons show classic physical characteristics and mildly affected may escape the diagnosis. Till now cases with familial or genetic background with variable expression were reported. We have disscussed this syndrome unusually in siblings.

[1]. Eeraveni R., Singh B D, Kamarthi N, Patel M, JainM, Oral and Systemic Manifestations of Treacher Collins- Franceschetti Syndrome (Mandibulofacial Dysostosis): A Case Report. JIDA,Dec4(12),2010,545-546. [2]. Neville BW, Damm DD,Allen CM, Bouquot JE, Developmental defects of the oral and maxillofacial region, in Oral and maxillofacial pathology(second edition).42-43. [3]. Martelli H, Ricardo D, Roseli T. M, Orofacial features of Treacher Collins, Med Oral Cir Bucal, July1,14(7)2009,344348. [4]. Lungarotti, M. S., Marinelli, D., Mariani, T., Calabro, A. Multiple congenital anomalies associated with apparently normal maternal intake of vitamin A: a phenocopy of the isotretinoin syndrome? Am. J. Med. Genet, 27,1987, 245-248. [5]. Marsh, K. L., Dixon, J., Dixon, M. J, Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. Hum. Molec. Genet., 7,1998,1795-1800. [6]. Li, C., Mernagh, J., Bourgeois, J, Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene. Clin. Dysmorph, 18,2009, 63-66. [7]. Bowman, M., Oldridge, M., Archer, C., O'Rourke, A., McParland, J., Brekelmans, R., Seller, A., Lester, T, Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. Europ. J. Hum. Genet, 20,2012, 769-777. [8]. Shafer WG,Hine HK, Barnet M. Levy. Diseases of bone and joints, in A Textbook of Oral Pathology , (fourth edition, Saunders Elsevier Publication,2009) 681-682.

Abstract: Trigemino cardiac reflex (TCR) is a sudden physiological response due to the pressure effect or stretching of the largest cranial nerve, the trigeminal nerve.TCR is a triad of bradycardia ,bradypnea and gastric motility changes due to the efferent activation of the vagal nerve in response to the pressure distribution in V5.TCR was originally called as oculo cardiac reflex ( OCR ) and the terminology was changed because the response is not only limited to the ophthalmic branch ,but for the entire nerve V5.Activation of TCR is seen in post traumatic patients and during surgical manipulation in cranio facial surgeries.TCR is more common in children with orbital fractures and in extra ocular surgeries. It is well documented in cases of ophthalmic injuries and ocular surgeries. It is imperative to know about this sudden physiological response in maxillofacial surgery which is bound to happen with any oral surgical procedures ranging from extractions, elevation of palatal flaps to maxillary disimpactions.

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Abstract: Background: Anencephaly is a neural tube defect which is due to the defective closure of cranial neuropore. It is associated with other systemic anomalies in most of the cases. This study was undertaken to determine the incidence of anencephaly among congenital malformations at autopsy, associated systemic anomalies, maternal age and sex of the fetus.

Keywords:- Anencephaly, Spinabifida, Omphalocele, Craniospinal rachinoschisis,

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[6]. Kaneko, Kotaro J.; Kohn, Matthew J.; Liu, Chengyu; Depamphilis, Melvin L. " Transcription factor TEAD2 is involved in neural tube closure". Genesis 2007: 45 (9): 577–87.

Abstract: Introduction: Community acquired pneumonia (CAP) is a common health problem seen in all age groups. The risk increases with increase in the age. It has very high morbidity and mortality. Smokings, COPD, older age are risk factors for CAP. Gram negative organisms are more commonly associated with older age. Once the culture reports are obtained, the treatment has to be changed according to the identified organism.

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