EEC syndrome sans clefting: variable clinical presentations in a family.
Indian J Dermatol Venereol Leprol
;
2007 Jan-Feb; 73(1): 46-8
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Síndrome
/
Anormalidades Dentárias
/
Feminino
/
Humanos
/
Masculino
/
Displasia Ectodérmica
/
Deformidades do Pé
/
Deformidades da Mão
/
Criança
/
Adulto
Idioma:
Inglês
Revista:
Indian J Dermatol Venereol Leprol
Ano de publicação:
2007
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS