Congenital alacrima is an autosomal dominant disorder showing markedly deficient lacrimation and punctate corneal epithelial erosions. The G (Opitz-Frias) syndrome is also an autosomal dominant disorder characterised by hypertelorism, hypospadias, stridor, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima.
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Dundar, M., Erkiliç, K., Demiryilmaz, F. et al. Congenital alacrima in a patient with G (Opitz Frias) syndrome. Hum Genet 97, 540–542 (1996). https://doi.org/10.1007/BF02267083
- Internal Medicine
- Metabolic Disease
- Autosomal Dominant Disorder
- Epithelial Erosion