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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.

Treacher- Collins Syndrome unusually in siblings