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Congenital corneal opacities as a new feature in an unusual case of White-Sutton syndrome.
Villalba, Maria Fernanda; Chang, Ta Chen.
Afiliación
  • Villalba MF; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.
  • Chang TC; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida. Electronic address: t.chang@med.miami.edu.
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.
Asunto(s)

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

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