Você conhece esta síndrome? / Do you know this syndrome?
An. bras. dermatol
;
85(4): 573-575, jul.-ago. 2010. ilus, tab
Article
in Portuguese
| LILACS
| ID: lil-560596
RESUMO
A síndrome de ectrodactilia, displasia ectodérmica e fenda lábio-palatina (EEC) corresponde a uma rara anomalia genética congênita, de herança autossômica dominante, penetrância e expressividade variáveis, associada à mutação no cromossomo 7 ou translocação entre cromossomos 7 e 9, determinada essencialmente pelas características que a denominam. Relata-se caso de paciente de 35 anos, acometido por estigmas sindrômicos, desde o nascimento, com história familiar e sem fenda lábio-palatina.
ABSTRACT
Ectrodactyly - ectodermal dysplasia - cleft lip/palate syndrome (EEC) is a rare autosomal dominant genetic disorder, with variable expression and penetrance. This congenital disorder is associated either with a mutation in chromosome 7 or with a translocation between chromosomes 7 and 9, reflected primarily in the abnormalities listed in its name. This case report describes a 35-year-old male with syndromic stigmata since birth and no cleft lip/palate. Four relatives are also affected by the condition.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Hyperpigmentation
/
Mouth Mucosa
/
Nail Diseases
Type of study:
Diagnostic study
Limits:
Female
/
Humans
Language:
Portuguese
Journal:
An. bras. dermatol
Journal subject:
Dermatology
Year:
2010
Type:
Article
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