Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
نویسندگان
چکیده
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand-split foot-ectodermal dysplasia-cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis.
منابع مشابه
سندرم Ectrodactyly– ectodermal dysplasia clefting: گزارش مورد به همراه علائم دهانی
Objectives: Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is a rare syndrome with features of ectrodactyly, ectodermal dysplasia and cleft lip/palate. This study presents an Iranian case with classic features and oral complications. Case: We report a 20-year old female with all manifestations of this syndrome. The simultaneous presence of these three malformations is extremely r...
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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature n...
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The combination of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (EEC syndrome) is a rare type of congenital anomaly. It usually occurs as an autosomal-dominant trait or less commonly in a sporadic form. In this complex, multiple congenital anomaly syndrome, any of the three cardinal manifestations may present with variable expressions.
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Ectrodactyly, Ectodermal dysplasia and Cleft lip/palate (EEC) syndrome is a rare combination of multiple congenital anomalies. Although the anomalies are diverse, the underlying problem arise from early embryonic ectodermal tissue defects or insults. We report a case of a baby boy who was born at 33 weeks of gestation with EEC syndrome. He died five months later of aspiration pneumonia. The man...
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