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. 2021 May 12;7(20):eabf2066. doi: 10.1126/sciadv.abf2066

Fig. 1. Facial photographs of affected individuals with SMARCA5 variants showing dysmorphisms.

Fig. 1

Individual identifiers correlate with those in table S1. Note the similarities in facial appearance with blepharophimosis, short palpebral fissures, periorbital fullness, epicanthal folds, wide and/or high nasal bridge, short and/or flat philtrum, thin upper lip, and arched eyebrows. Individual 1: 3.7-year-old male; individual 4: 18-year-old male; individual 5: 39-year-old female; individual 7: 9.5-year-old female; individual 10: 3-year-old male; individual 11: 3.6-year-old male. Photo credits: M. A. Deardorff, Children’s Hospital Los Angeles; A. Kurolap and D. Tiosano, Ruth Rappaport Children’s Hospital; M. J. M. Nowaczyk, McMaster University; Y. Huang, University of California, Los Angeles; N. Boy, University Hospital Heidelberg.