Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: a further case.
نویسندگان
چکیده
We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.
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...
متن کاملEctrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression.
An infant is reported with a complete form of the ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, inherited from his mother, who has a partial expression of the condition, without clefting. This observation stresses the phenotypic variability of the EEC syndrome, which in most cases is inherited as an autosomal dominant with reduced penetrance.
متن کاملHypothalamo−Pituitary Insufficiency Associated with Ectrodactyly−Ectodermal Dysplasia−Clefting Syndrome
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is characterized by ectodermal dysplasia, ectrodactyly and facial clefting with multiple congenital anomalies such as urinary tract anomaly, lacrimal duct obstruction, and hearing loss. This syndrome is a rare disease transmitted by autosomal dominant inheritance with variable penetrance. Clinical expression is variable. In EEC syndrome ...
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 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 ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 26 9 شماره
صفحات -
تاریخ انتشار 1989