A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome

PURPOSE: To report a case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome (BWS). OBSERVATIONS: An 8-month-old girl known case of BWS, due to hypomethylation of the DMR2 (KCNQ1OT1) on chromosome 11p15.5, with features of macroglossia, neonatal hypoglycaemia and...

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Detalles Bibliográficos
Autores principales: Alnefaie, Maram, Jefri, Mona, Almahmoudi, Fayqah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220324/
https://www.ncbi.nlm.nih.gov/pubmed/34189344
http://dx.doi.org/10.1016/j.ajoc.2021.101150
Descripción
Sumario:PURPOSE: To report a case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome (BWS). OBSERVATIONS: An 8-month-old girl known case of BWS, due to hypomethylation of the DMR2 (KCNQ1OT1) on chromosome 11p15.5, with features of macroglossia, neonatal hypoglycaemia and an unusual finding of partial iris hypopegmentaion in her left eye. CONCLUSIONS: This is the first reported case of iris heterochromia in a BWS patient. Further studies are needed to support the association between eye findings and BWS related genetic defects.

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