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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Fig. 2

Clinical features of the syndrome in family CSA108. a Phenotype of syndromic cataract in CSA108.01. Slit-lamp photographs showing posterior polar oil droplet cataract with posterior lenticonus. b Dental abnormalities in CSA108.01 (left) and CSA108.02 (right). c Facial features in CSA108.01 (left) and CSA108.02 (right). In particular, note flat mid-face in both, and short philtrum, long/narrow chin and upturned ear lobules in CSA108.01

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