Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene.
J Pediatr Ophthalmol Strabismus
; 57: e8-e11, 2020 Jan 24.
Article
en En
| MEDLINE
| ID: mdl-31978233
ABSTRACT
A 4-month-old male infant with frontometaphyseal dysplasia and de novo FLNA gene mutation died of complications of disease. Post-mortem examination revealed accessory iris membranes. This is the first report in the literature of accessory iris membranes in a confirmed case of FLNA mutation and phenotypic anomalies consistent with frontometaphyseal dysplasia. [J Pediatr Ophthalmol Strabismus. 2020;57e8-e11.].
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
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Iris
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Filaminas
/
Frente
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
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Infant
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Male
Idioma:
En
Revista:
J Pediatr Ophthalmol Strabismus
Año:
2020
Tipo del documento:
Article