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

Marco Castori, Giulia Pascolini, Valentina Parisi, Maria Elena Sana, Antonio Novelli, Peter Nürnberg, Maria Iascone, Paola Grammatico

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)842-851
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number4
DOIs
Publication statusPublished - Apr 1 2015

Keywords

  • Alopecia
  • Atrichia
  • Ectodermal dysplasia
  • Intellectual disability
  • Microcephaly
  • Syndactyly
  • Synostosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

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