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 CASE REPORT
Year : 2007  |  Volume : 73  |  Issue : 1  |  Page : 46--48

EEC syndrome sans clefting: Variable clinical presentations in a family


Department of Dermatology, Medical College, Vadodara, Gujarat, India

Correspondence Address:
Sejal Thakkar
C-82, Smruti Society, Refinery Road, Gorwa, Vadodara - 390 016
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0378-6323.30653

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Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly), epiphora, hair changes and deafness with variable involvement in each family member.






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Online since 15th March '04
Published by Wolters Kluwer - Medknow