Indian Journal of Dermatology, Venereology and Leprology
Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
Vol. 73, No. 1, 2007, pp. 46-48
Bioline Code: dv07013
Full paper language: English
Document type: Research Article
Document available free of charge
Indian Journal of Dermatology, Venereology and Leprology, Vol. 73, No. 1, 2007, pp. 46-48
© Copyright 2007 Indian Journal of Dermatology, Venereology and Leprology.
Case Report - EEC syndrome sans clefting: Variable clinical presentations in a family|
Thakkar Sejal, Marfatia Yogesh
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.
EEC syndrome, Ectrodactyly, Intrafamilial variations
Alternative site location: http://www.ijdvl.com