TREACHER COLLINS SYNDROME. TREACHER COLLINS SYNDROME /MANDIBULOFACIAL DYSOSTOSIS /FRANCESCHETTI-ZWAHLEN-KLEIN SYNDROME / ZYGOAUROMANDIBULAR DYSPLASIA IS AN AUTOSOMAL DOMINANT CONGENITAL DISORDER CHARACTERISED BY CRANIOFACIAL DEFORMITIES INVOLVING EYES,EARS AND CHEEK BONES WITH NORMAL INTELLIGENCE. THE SYNDROME WAS NAMED AFTER EMINENT BRITISH OPHTHALMOLOGIST EDWARD TREACHER COLLINS WHO DESCRIBED IT. EMBRYOLOGY CRANIOFACIAL DYSMORPHIC IS DUE TO FAILURE OF NEURAL CREST CELLS TO MIGRATE INTO THE FIRST AND SECOND BRANCHIAL ARCHES LEADING TO HYPOPLASIA /APLASIA OF THE MUSCULOSKELETAL DERIVATIVES OF THESE ARCHES. THE CRITICAL PERIOD IS BETWEEN 6-7TH WEEK OF EMBRYO NALGONDA DEVELOPMENT. INHERITANCE OF TCS IS AUTOSOMAL DOMINANT WITH COMPLETE PENETRATE AND VARIABLE EXPRESSIVITY. TCS OCCURS DUE TO MUTATIONS IN TCOF1,POLR1CAND POLR1C GENES. CLINICAL FEATURES FACE CHARACTERISTIC DYSMORPHIC FACIES OF TCS ARE SYMMETRICAL AND BILATERAL. DOWNWARD SLOPING PALPEBRAL FISSURES. DEPRESSED CHEEK BONES. MALFORMED PINNA. DOWN TURNED MOUTH. RECEDING CHIN. SKULL HYPOPLASTIC MALAR BONES,ZYGOMATIC PROCESS OF FRONTAL BONE,LATERAL PTERYGIUM PLATES,PARANASAL SINUSES AND MANDIBULAR CONDYLES. MASTOIDS ARE NOT PNEUMATIZED. CRANIAL BASE IS PROGRESSIVELY KYPHOTIC. EYES DOWNWARD SLOPING PALPEBRAL FISSURES. COLOBOMA IN THE OUTER THIRD OF LOWER LID EARS MALFORMED PINNA. MEATAL ATRESIA STENOSIS /ATRESIA OF EXTERNAL AUDITORY CANAL. APLASIA /HYPOPLASIA OF MALLEUS, INCUS AND STAPES ANKYLOSIS OF STAPES CONDUCTIVE HEARING LOSS. MOUTH AND THROAT. CLEFT PALATE. APLASIA /HYPOPLASIA OF PAROTID. PHARYNGEAL HYPOPLASIA IS A CONSTANT FINDING. MENTAL STATUS NORMAL INTELLIGENCE. DEVELOPMENTAL DELAY DUE TO UNDIAGNOSED HEARING LOSS. DYSFUNCTIONAL SYMPTOMS. RETRO POSITIONED HYPOPLASTIC TONGUE. DIFFICULTIES IN FEEDING AND SWALLOWING. CONDUCTIVE HEARING LOSS. IMPAIRED VISION. PRENATAL DIAGNOSIS MIDTRIMESTER ULTRASOUND CAN DETECT FACIAL DYSMORPHOLIGY. FETAL CELLS VIA CHORIONIC VILLUS SAMPLING AT 10 WEEKS. AMNIOCENTESIS AT 16 WEEKS. POSTNATAL ASSESSMENT. OXYGEN SATURATION BY PULSE OXIMETER. ASSESSMENT OF FEEDING EFFICIENCY. AUDIOLOGICAL TESTING. NEUROOPHTHALMOLOGICAL ASSESSMENT. CRANIOFACIAL CT SCAN. GENETIC DIAGNOSIS BY GENETICIST. TREATMENT MULTIDISCIPLINARY APPROACH. AIRWAY INADEQUACY -TRACHEOSTOMY. SWALLOWING DIFFICULTY -GASTROSTOMY. CONDUCTIVE HEARING LOSS -HEARING AIDS. SURGICAL CORRECTION OF DEFORMITIES DONE ACCORDING TO PHYSIOLOGICAL NEED AND DEVELOPMENT. .

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very good stuff for Pg students..

good illustration, thanks mam

welcome, doctor
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Thanks for fine information madam

welcome, doctor
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Good Revision.

hope it's helpful
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Nice post .

thank you, doctor
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We had diagnosed one during our Ophthalmology PG training and written a paper in Indian Journal of Ophthalmology way back in 1992-93.

but there are many persons with typical facies doctor . disease with variable expressivity
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Useful and informative.

thank you, doctor
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thanks for sharing this informative post.....

welcome, doctor
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Nice illustrations and helpful informative on TC syndrome. ..thanQ. Madam. ..

welcome, doctor
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quick revision to all the syndromes

I think it's easy to understand
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