Treacher Collins Syndrome associated with foot deformity and genital anomalies Ayak deformitesi ve genital anomali ile birliktelik gösteren Treacher Collins Sendromu
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چکیده
19 T reacher Collins syndrome is an autosomal dominant genetic disorder and affects mainly the head and face. The incidence is estimated to range from 1 in 40 000 to in 70 000 live births. The patients with TCS have usually characteristic bilateral facial anomalies (1). This article reports a case of Treacher Collins syndrome with the presence of genital anomalies and foot abnormality that has not been previously described clinically in this disorder.
منابع مشابه
Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is a genetic disease that alters the development of bones and other tissues in the face, and presents variable expressivity. At least three genes TCOF1, POLR1D, and POLR1C were recognized to be at the origin of this syndrome which may be inherited through either an autosomal dominant or autosomal recessive pattern. TCS changes can be divided into otological, opht...
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Özet İlk olarak 1958 yılında Cantrell, Haller ve Ravitch tarafından tanımlanan Cantrell sendromu, ektopia kordis ile birlikte diyafragma, orta hat karın duvarı ve perikardı etkileyen nadir görülen bir anomalidir. Cantrell sendromu sıklıkla intrakardiyak defektler ile birliktelik göstermektedir. Kompleks kardiyak anomali prognozu belirlemede önemli bir role sahiptir. Çeşitli derecelerde birçok s...
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Treacher Collins syndrome (Mandibulofacial dysostosis) is characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle. Hypoplasia of the facial bones may be the first indicator of the disorder. We present a case report of Treacher Collins syndrome with their ...
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Treacher Collins syndrome is a congenital disorder with bilaterally symmetric anomalies of the structures developing from the first and second branchial arches. The ocular and orbital features are an obligatory component for the diagnosis. We presented a case of typical, complete syndrome and also reviewed the varied ophthalmological manifestations of the disease in the literature. Antimongoloi...
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تاریخ انتشار 2006