Xenbase Image ID: 150174

Fig. 2. Clinical findings in families with mutations in GLI2. (a) Pedigrees of four families (nos. 1-4) who have individuals with GLI2 loss-of-function mutations (*). Probands are indicated by an arrow, HPE is indicated by red symbols, hypopituitarism is indicated by orange symbols, and polydactyly is indicated by blue symbols. (b) Proband in family 1 with severe midfacial hypoplasia, bilateral cleft lip and palate, postaxial polydactyly, and pituitary hypoplasia (arrow). (c) Proband in family 2 with extreme midfacial hypoplasia, pseudomedian cleft lip, and severe growth retardation. (d) Deceased sibling in family 4 with midface hypoplasia bilateral cleft lip and palate, and absent pituitary and brain findings consistent with HPE (data not shown). (e) Proband in family 4 with midface hypoplasia, repaired cleft lip and palate, postaxial polydactyly, and absent pituitary on MRI (data not shown). The deceased male in the first generation of family 4 is reported to have had cleft lip and cleft palate in addition to polydactyly. These pedigrees are consistent with autosomal dominant transmission of a null GLI2 disease susceptibility gene. Image published in: Roessler E et al. (2003) Copyright © 2003. Image reproduced with permission of the publisher and the copyright holder. This is an Open Access article distributed under the terms of the Creative Commons Attribution License. Larger Image Printer Friendly View

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