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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



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ID: 334852.0, MPI für molekulare Genetik / Research Group Development and Disease
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.
Authors:Castori, Marco; Brancati, Francesco; Mingarelli, Rita; Mundlos, Stefan; Dallapiccola, Bruno
Language:English
Research Context:Funded by: Italian Ministry of Health grant Ricerca Corrente 2006
Date of Publication (YYYY-MM-DD):2007-02-01
Title of Journal:American Journal of Medical Genetics/ Part A
Journal Abbrev.:Am. J. Med. Genet.
Volume:143
Issue / Number:2
Start Page:195
End Page:199
Copyright:© 2007 Wiley-Liss, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description:We report on a 2-year-old girl affected by an isolated form of brachydactyly type B (BDB)-like malformation of the limbs consistent with Cooks syndrome (CS). A literature review was carried out in an attempt to delineate the CS clinical spectrum and separate it from BDB. The two conditions can be differentiated on clinical, radiological, and genetic grounds. In particular, CS shows a characteristic pattern of ungueal and phalangeal anomalies. In the hands, all rays are involved to a similar extent with bulbous tips. The feet are generally more severely affected than the hands. Involvement of the nails appears to be a primary feature and not secondary to phalangeal hypo/aplasia. Also, radial and ulnar rays are similarly affected. The CS clinical spectrum is expanded to include ungueal tumor-like lesions, observed in the present patient.
Free Keywords:apical dystrophy • BDB • Cooks syndrome • dorsoventral patterning • ectrodactyly • ROR2
Comment of the Author/Creator:email: Bruno Dallapiccola (dallapiccola@css-mendel.it)
Correspondence to Bruno Dallapiccola, CSS-Mendel Institute, Viale Regina Margherita, 261, 00198 Rome, Italy.
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.IRCCS-C.S.S. San Giovanni Rotondo and C.S.S.-Mendel Institute, Rome, Italy;
2.Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy;
3.Institute for Medical Genetics, Charité, Berlin, Germany.
Identifiers:ISSN:0148-7299
DOI:10.1002/ajmg.a.31433
URL:http://www3.interscience.wiley.com/cgi-bin/fulltex...
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