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 language | English |
|---|---|
| Pages (from-to) | 842-851 |
| Number of pages | 10 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 167 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 1 2015 |
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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 journal › Article
}
TY - JOUR
T1 - Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance
T2 - Delineation of cerebro-dermato-osseous-dysplasia
AU - Castori, Marco
AU - Pascolini, Giulia
AU - Parisi, Valentina
AU - Sana, Maria Elena
AU - Novelli, Antonio
AU - Nürnberg, Peter
AU - Iascone, Maria
AU - Grammatico, Paola
PY - 2015/4/1
Y1 - 2015/4/1
N2 - 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.
AB - 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.
KW - Alopecia
KW - Atrichia
KW - Ectodermal dysplasia
KW - Intellectual disability
KW - Microcephaly
KW - Syndactyly
KW - Synostosis
UR - http://www.scopus.com/inward/record.url?scp=84925713532&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84925713532&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36983
DO - 10.1002/ajmg.a.36983
M3 - Article
C2 - 25708316
AN - SCOPUS:84925713532
VL - 167
SP - 842
EP - 851
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -