Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate.
Pediatr Dermatol
; 39(3): 481-482, 2022 May.
Article
em En
| MEDLINE
| ID: mdl-35181938
ABSTRACT
Aplasia cutis congenita (ACC) was diagnosed in a newborn with dysmorphic facial features, oligodactyly of the bilateral feet, and hip instability. The neonate's clinical abnormalities in addition to genetic testing confirmed a diagnosis of trichorhinophalangeal syndrome (TRPS) type II. The possibility of concurrent Adams-Oliver syndrome (AOS) is raised.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dermatoses do Couro Cabeludo
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Displasia Ectodérmica
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Síndrome de Langer-Giedion
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Deformidades Congênitas dos Membros
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Humans
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Newborn
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Estados Unidos