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New ocular finding in Baraitser-Winter syndrome.

08:00 EDT 9th October 2017 | BioPortfolio

Summary of "New ocular finding in Baraitser-Winter syndrome."

Baraitser-Winter syndrome was first described as a syndrome of mental retardation with bilateral ptosis, iris coloboma, widely spaced eyes, broad epicanthus, flattened nasal bridge, hypertelorism, and short stature (Baraitser and Winter, 1988; Baraitser-Winter- iris co, 2016). In a recent review of 42 cases, the phenotypic spectrum has broadened including high-arched eyebrows, short upturned nose tip, long philtrum, cleft lip and palate, abnormally shaped ears, deafness, congenital heart defects, microphthalmia, metopic ridge, microcephaly, pachygyria, progressive joint stiffness, epilepsy, syndactyly, and dystonia, among other less reported signs (Baraitser and Winter, 1988; Ganesh et al., 2005; Abou Henedy et al., 2011; Verloes et al., 2015). The syndrome is due to a variant on either ACTB or ACTG1 genes (Di Donato et al., 2013; Rivière et al., 2012). We report a 3-year-old girl with short stature, mild developmental delay and intellectual disability, minor brain anomalies and very few dysmorphic features including unusual stroma of the irises and corectopia. Exome sequencing reported a de novo pathogenic variant on the ACTB gene. The present report adds a new ocular finding to the phenotypic spectrum which may be mild.

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Name: European journal of medical genetics
ISSN: 1878-0849
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