Microcephaly, Ectodermal Dysplasia, Multiple Skeletal Anomalies, and Distinctive Facial Appearance: Delineation of Cerebro-Dermato-Osseous-Dysplasia

作者：Castori Marco^*; Pascolini Giulia; Parisi Valentina; Sana Maria Elena; Novelli Antonio; Nuernberg Peter; Iascone Maria; Grammatico Paola

来源：American Journal of Medical Genetics, Part A, 2015, 167A(4): 842-851.

DOI：10.1002/ajmg.a.36983

• alopecia
• atrichia
• ectodermal dysplasia
• intellectual disability
• microcephaly
• syndactyly
• synostosis

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.

• 出版日期2015-4