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Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome in a family

  • Anil Kumar Gaur EMAIL logo , Rajendra Sharma , Amit Subhash Mhambre and Sudhir Mishra
Published/Copyright: August 14, 2014

Abstract

The combination of ectrodactyly, ectodermal dysplasia, and cleft lip/palate is known as EEC syndrome. This disorder is characterized by deformities of fingers and toes (ectrodactyly), anomalies of hair, teeth, nails, nasolacrimal ducts, sweat glands, etc. (ectodermal dysplasia), and cleft lip/palate. Other less common findings include abnormalities of eyes and genitourinary anomalies, etc. In the patient, having ectrodactyly hand function depends on the type and severity of deformities. The function can be improved to a variable extent by surgery or assistive devices, aids, or appliances. We present a case of a 17-year-old with EEC that had familial presentation as the mother of the patient was also affected. The boy had hand function, which was enough for routine work, however, he wanted improvement in his hands to do fine work. His mother had almost normal hand function. The hand function of the boy improved with aids.


Corresponding author: Dr. Anil Kumar Gaur, Department of Physical Medicine and Rehabilitation, All India Institute of Physical Medicine and Rehabilitation, K.K. Marg, Haji Ali, Mahalaxmi, Mumbai 400034, India, Phone: +91-9969114253, Fax: +91-2223532737, E-mail:

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Received: 2014-1-10
Accepted: 2014-5-13
Published Online: 2014-8-14
Published in Print: 2015-2-1

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