Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report.
Eur J Ophthalmol
; 32(1): NP66-NP70, 2022 Jan.
Article
en En
| MEDLINE
| ID: mdl-33147988
ABSTRACT
INTRODUCTION:
Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) (OMIM 164180) is a rare syndrome affecting eyes, skin, and central nervous system, and it is usually associated with microphthalmia. CASE DESCRIPTION A 4-day old baby boy was referred to our hospital for the evaluation of buphthalmos in the left eye. His clinical evaluation was remarkable for oculocerebrocutaneous syndrome with congenital glaucoma in the left eye and microphthalmos in the right eye.CONCLUSION:
Our report represents the first case of oculocerebrocutaneous syndrome associated with unilateral congenital glaucoma so far in the literature.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Cutáneas
/
Anomalías Múltiples
/
Anomalías del Ojo
/
Hidroftalmía
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Eur J Ophthalmol
Asunto de la revista:
OFTALMOLOGIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Arabia Saudita