title: Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.
abstract: In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual disability, distinctive 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 the central nervous system, and skin and bones in five sporadic patients (including ours), while the two sibs and a further sporadic case show significant phenotypic divergence. Marked clinical variability within the same entity versus syndrome splitting is discussed and the term "cerebro-dermato-osseous dysplasia" is introduced to define this condition.
authors.affiliation: Department of Molecular Medicine, Division of Medical Genetics, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Giulia
authors.initials: G
authors.lastname: Pascolini
authors.forename: Valentina
authors.initials: V
authors.lastname: Parisi
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Sana
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.forename: Maria
authors.initials: M
authors.lastname: Iascone
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000505:Alopecia / Q000175:diagnosis; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000175:diagnosis; D019066:Facies; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008831:Microcephaly / Q000000981:diagnostic imaging*; D011859:Radiography; D013576:Syndactyly / Q000000981:diagnostic imaging; D013577:Syndrome
keywords: alopecia; atrichia; ectodermal dysplasia; intellectual disability; microcephaly; syndactyly; synostosis