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Article: A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?

TitleA patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?
Authors
Tan, TYWhitelaw, CSavarirayan, R
KeywordsAxial mesodermal dysplasia complex
Intellectual disability
Mullerian abnormalities
Multicystic dysplastic kidney
MURCS
Issue Date2007
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.lww.com/product/?0962-8827
Citation
Clinical Dysmorphology, 2007, v. 16 n. 4, p. 271-273 How to Cite?
DOI: http://dx.doi.org/10.1097/MCD.0b013e32827425d2
AbstractWe report a 15-year-old girl with features of the MURCS (Mullerian abnormalities, renal agenesis/ectopy and cervicothoracic somite dysplasia) association and birth defects not typically associated with MURCS. In addition to seizures and intellectual disability, she has cortical brain heterotopia, bilateral subclinical cataracts, submucous cleft palate and patent ductus arteriosus. We propose that this patient represents a more severe form of MURCS, or 'MURCS-plus', which may represent a defect of or insult to mesodermal morphogenesis. © 2007 Lippincott Williams & Wilkins, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/170387
ISSN
0962-8827
2021 Impact Factor: 0.884
2020 SCImago Journal Rankings: 0.318
ISI Accession Number ID
WOS:000249966400010
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorTan, TYen_US
dc.contributor.authorWhitelaw, Cen_US
dc.contributor.authorSavarirayan, Ren_US
dc.date.accessioned2012-10-30T06:07:57Z-
dc.date.available2012-10-30T06:07:57Z-
dc.date.issued2007en_US
dc.identifier.citationClinical Dysmorphology, 2007, v. 16 n. 4, p. 271-273en_US
dc.identifier.issn0962-8827en_US
dc.identifier.urihttp://hdl.handle.net/10722/170387-
dc.description.abstractWe report a 15-year-old girl with features of the MURCS (Mullerian abnormalities, renal agenesis/ectopy and cervicothoracic somite dysplasia) association and birth defects not typically associated with MURCS. In addition to seizures and intellectual disability, she has cortical brain heterotopia, bilateral subclinical cataracts, submucous cleft palate and patent ductus arteriosus. We propose that this patient represents a more severe form of MURCS, or 'MURCS-plus', which may represent a defect of or insult to mesodermal morphogenesis. © 2007 Lippincott Williams & Wilkins, Inc.en_US
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.lww.com/product/?0962-8827en_US
dc.relation.ispartofClinical Dysmorphologyen_US
dc.subjectAxial mesodermal dysplasia complex-
dc.subjectIntellectual disability-
dc.subjectMullerian abnormalities-
dc.subjectMulticystic dysplastic kidney-
dc.subjectMURCS-
dc.subject.meshAdolescenten_US
dc.subject.meshCataract - Complicationsen_US
dc.subject.meshCervical Vertebrae - Abnormalitiesen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshIntellectual Disability - Complicationsen_US
dc.subject.meshKidney - Abnormalitiesen_US
dc.subject.meshLimb Deformities, Congenital - Complicationsen_US
dc.subject.meshMullerian Ducts - Abnormalitiesen_US
dc.subject.meshSpinal Fusionen_US
dc.titleA patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?en_US
dc.typeArticleen_US
dc.identifier.emailTan, TY:tanty@hku.hken_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1097/MCD.0b013e32827425d2en_US
dc.identifier.pmid17786121-
dc.identifier.scopuseid_2-s2.0-34548450391en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-34548450391&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume16en_US
dc.identifier.issue4en_US
dc.identifier.spage271en_US
dc.identifier.epage273en_US
dc.identifier.isiWOS:000249966400010-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridWhitelaw, C=7004304429en_US
dc.identifier.scopusauthoridSavarirayan, R=7003566196en_US
dc.identifier.issnl0962-8827-

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