Microcephaly, unusual nose, cutaneous syndactyly, and mental retardation.

摘要

We followed over a prolonged period of time a girl who showed marked postnatal growth retardation, microcephaly, very distinct facial features, and developmental delay. Extensive additional studies that included a skeletal survey, brain imaging, chromosome analysis in leukocytes and fibroblasts, sequencing of several candidate genes, and CGH array failed to provide an explanation. The girl may represent a hitherto unreported entity, which should be recognizable by colleagues as a result of the unusual facial features