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 journalArticle

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

Fingerprint

Ectodermal Dysplasia
Microcephaly
Intellectual Disability
Extremities
Central Nervous System
Phenotype
Bone and Bones
Skin

Keywords

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

ASJC Scopus subject areas

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

Cite this

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance : Delineation of cerebro-dermato-osseous-dysplasia. / Castori, Marco; Pascolini, Giulia; Parisi, Valentina; Sana, Maria Elena; Novelli, Antonio; Nürnberg, Peter; Iascone, Maria; Grammatico, Paola.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 4, 01.04.2015, p. 842-851.

Research output: Contribution to journalArticle

Castori, Marco ; Pascolini, Giulia ; Parisi, Valentina ; Sana, Maria Elena ; Novelli, Antonio ; Nürnberg, Peter ; Iascone, Maria ; Grammatico, Paola. / Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance : Delineation of cerebro-dermato-osseous-dysplasia. In: American Journal of Medical Genetics, Part A. 2015 ; Vol. 167, No. 4. pp. 842-851.
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