Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome)
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چکیده
منابع مشابه
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
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) w...
متن کاملEctrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
The Ectrodactyly-Ectodermal Dysplasia-Clefting syndrome is also known as the EEC syndrome. The word ectrodactyly is derived from the Greek, and means congenital absence of all or part of a finger or toe. While both hands and both feet are usually involved, exceptions have been noted in that one hand may be normal and, rarely, all extremities are normal. Tear ducts are abnormal in most affected ...
متن کاملSiblings Affected by Ectrodactyly-ectodermal Dysplasia and Cleft Lip/palate (eec) Syndrome Presenting Normal Parents: Germline Mosaicism?
OBJECTIVE EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents. CASE DESCRIPTION The patient was the third son of young and healthy parents. ...
متن کاملEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of “Incomplete syndrome”
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...
متن کاملEctrodactary, ectodermal dysplasia, and cleft lip-palate syndrome.
The EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip-palate) is a rare disorder inherited as an autosomal dominant trait or can occur sporadically. We describe a case of this syndrome with chronic ocular surface disorder secondary to abnormalities of ocular adnexia.
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ژورنال
عنوان ژورنال: Contemporary Clinical Dentistry
سال: 2012
ISSN: 0976-237X
DOI: 10.4103/0976-237x.96831