A Case of One Stage Correction of Pterygium Colli and Ptosis with Epicnathal Fold in Pediatric Ullrich-Noonan Syndrome
Journal of the Korean Cleft Palate-Craniofacial Association
;
: 136-138, 2005.
Artigo
em Coreano
| WPRIM
| ID: wpr-220666
ABSTRACT
Ullrich-Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with unusual faces and multiple malformations. These patients proved to have phenotypes of Turner syndrome with normal karyotyes, which is important feature that distinguishes Noonan from Turner syndrome. Typical features are triangular shaped face, hypertelorism, down slanting eyes, ptosis, strabismus, amblyopia, refractive errors, low set ears with thickened helices, high nasal bridge and webbed neck. A 5-year old female was admitted to our center for a surgical intervention of the known webbed neck deformity, ipsilateral upper eyelid ptosis and bilateral epicanthal fold. She had normal karyotye(46, XX) without further abnormality on physical examination. We corrected the webbed neck deformity, ptosis and epicanthal fold simultaneously with satisfactory result.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Exame Físico
/
Erros de Refração
/
Anormalidades Congênitas
/
Síndrome de Turner
/
Blefaroptose
/
Pterígio
/
Ambliopia
/
Estrabismo
/
Orelha
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Cleft Palate-Craniofacial Association
Ano de publicação:
2005
Tipo de documento:
Artigo
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