Universität zu Köln

Castori, Marco ORCID: 0000-0002-6069-0993, Pascolini, Giulia ORCID: 0000-0002-2440-7441, Parisi, Valentina, Sana, Maria Elena, Novelli, Antonio ORCID: 0000-0002-9037-4297, Nuernberg, Peter, Iascone, Maria and Grammatico, Paola (2015). Microcephaly, Ectodermal Dysplasia, Multiple Skeletal Anomalies, and Distinctive Facial Appearance: Delineation of Cerebro-Dermato-Osseous-Dysplasia. Am. J. Med. Genet. A, 167 (4). S. 842 - 852. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

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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. (c) 2015 Wiley Periodicals, Inc.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Castori, Marco UNSPECIFIED orcid.org/0000-0002-6069-0993 UNSPECIFIED Pascolini, Giulia UNSPECIFIED orcid.org/0000-0002-2440-7441 UNSPECIFIED Parisi, Valentina UNSPECIFIED UNSPECIFIED UNSPECIFIED Sana, Maria Elena UNSPECIFIED UNSPECIFIED UNSPECIFIED Novelli, Antonio UNSPECIFIED orcid.org/0000-0002-9037-4297 UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Iascone, Maria UNSPECIFIED UNSPECIFIED UNSPECIFIED Grammatico, Paola UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-408410
DOI:	10.1002/ajmg.a.36983
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	167
Number:	4
Page Range:	S. 842 - 852
Date:	2015
Publisher:	WILEY-BLACKWELL
Place of Publication:	HOBOKEN
ISSN:	1552-4833
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MENTAL-RETARDATION; ODONTOTRICHOMELIC SYNDROME; TETRAMELIC DEFICIENCIES; CLEFT LIP/PALATE; SHORT STATURE; MUTATIONS; ALOPECIA; PHENOTYPE; PVRL1 Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/40841