EEC syndrome sans clefting: variable clinical presentations in a family.

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Date
2007-01-23
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Abstract
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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Thakkar S, Marfatia Y. EEC syndrome sans clefting: variable clinical presentations in a family. Indian Journal of Dermatology, Venereology and Leprology. 2007 Jan-Feb; 73(1): 46-8
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https://imsear.searo.who.int/handle/123456789/53019
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Indian Journal of Dermatology, Venereology and Leprology