A new case of Okamoto syndrome.
Clin Dysmorphol
; 14(2): 85-87, 2005 Apr.
Article
em En
| MEDLINE
| ID: mdl-15770130
ABSTRACT
We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome. Okamoto syndrome is a recently described distinctive multiple congenital anomaly syndrome encompassing the above features for which an etiologic factor has not yet been identified. Our patient also had idiopathic splenomegaly and non-specific MRI changes in the brain, not reported in the first two cases.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Fissura Palatina
/
Hidronefrose
/
Hipotonia Muscular
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Clin Dysmorphol
Assunto da revista:
TERATOLOGIA
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Estados Unidos