EEC syndrome
نویسندگان
چکیده
منابع مشابه
EEC syndrome: A rare entity
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...
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 کاملThe EEC syndrome and its ocular manifestations.
The EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip and palate) is a rare disorder with autosomal dominant inheritance, variable expression, and in some families lack of penetrance. We present the findings in five cases with emphasis on the ocular findings. Lacrimal surgery was performed on three patients with good results in each case. We also report t...
متن کاملDilemmas in counselling: the EEC syndrome.
A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot with 3/4 syndactyly. The dilemmas faced by the genetic counsellor are discussed...
متن کاملEEC syndrome without ectrodactyly: report of two new families.
In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short philtrum, and broad nasal tip.
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ژورنال
عنوان ژورنال: Indian Journal of Ophthalmology
سال: 2007
ISSN: 0301-4738
DOI: 10.4103/0301-4738.30725