EEC syndrome sans clefting: variable clinical presentations in a family.
Indian J Dermatol Venereol Leprol
;
2007 Jan-Feb; 73(1): 46-8
Article
in English
| IMSEAR
| ID: sea-53019
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Syndrome
/
Tooth Abnormalities
/
Female
/
Humans
/
Male
/
Ectodermal Dysplasia
/
Foot Deformities
/
Hand Deformities
/
Child
/
Adult
Language:
English
Journal:
Indian J Dermatol Venereol Leprol
Year:
2007
Type:
Article
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