Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia.

In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual disability, peculiar facial appearance, congenital atrichia and multiple skeletal anomalies mainly affecting the limbs. Four further sporadic patients and a couple of affected sibs are also reported with a broad clinical variability. Here, we describe a 4-year-old girl strikingly resembling the original report. Phenotype comparison identified a recurrent pattern of multisystem features involving central nervous system, skin and bones in all five sporadic patients (including ours), while the two sibs and a further sporadic case show significant phenotypic divergences. Marked clinical variability within the same entity versus syndrome splitting are discussed and the term “cerebro-dermato-osseous dysplasia” is introduced to define this condition.