Our beautiful son will be four in July. He has some clinical features of GS (bifid and fused ribs, macrocephaly, Sprengel shoulder), plus height on 99th percentile, low tone, ?concave sternum, arachnoid cyst and two alterations to the PTCH1 gene 'that have not been seen before', one of which my husband also has. We have been advised that at present this is all inconclusive and that a diagnosis of GS cannot be definitively ruled in or out.
Our son had a complex febrile seizure last May and this Saturday had his first non fever related seizure. This has raised our anxiety levels again that something else is going on.
Has anyone else had an experience of inconclusive genetic testing?