Congenital corneal opacities as a new feature in an unusual case of White-Sutton syndrome.
J AAPOS
; 26(5): 265-268, 2022 10.
Article
en En
| MEDLINE
| ID: mdl-35948257
A 2-week-old girl presented with bilateral congenital corneal opacities. Additional systemic manifestations included microcephaly, patent foramen ovale, and poor feeding. Patient and parents underwent whole exome sequencing trio analysis that revealed a de novo pathogenic variant in POGZ (p.Val1150GlyfsX8), which is causative of the White-Sutton syndrome. This rare genetic condition is usually associated with intellectual and developmental delay, facial dysmorphism, strabismus, refractive error, and retinal changes. To our knowledge, this is the first reported case of White-Sutton syndrome presenting with congenital corneal opacities.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías del Ojo
/
Opacidad de la Córnea
/
Discapacidad Intelectual
/
Microcefalia
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
Idioma:
En
Revista:
J AAPOS
Asunto de la revista:
OFTALMOLOGIA
/
PEDIATRIA
Año:
2022
Tipo del documento:
Article
Pais de publicación:
Estados Unidos