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. Author manuscript; available in PMC: 2015 Apr 30.
Published in final edited form as: Hum Genet. 2014 Apr 20;133(8):1023–1039. doi: 10.1007/s00439-014-1443-3

Figure 1. Images of the affected siblings LR05-054a1 and LR05-054a2.

Figure 1

(a–c). Patient LR05-054a1 at 16 months of age.

(d). Patient LR05-054a2 at 2 years of age showing microcephaly, low sloping forehead, proportionately large ears and nose, a prominent nose, micrognathia, and severe growth deficiency.

(e). T1-weighted mid-sagittal and (f). T2-weighted axial brain MRI images of LR05-054a1 at 17 days of life show severe microcephaly, with low-sloping forehead, severely simplified gyral pattern with virtually no gyri in the frontal region, mildly increased extra-axial space, and disproportionately small cerebellar vermis.