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Article: Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review

TitleTwo sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review
Authors
Issue Date2006
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal Of Medical Genetics, Part A, 2006, v. 140 n. 16, p. 1778-1784 How to Cite?
AbstractAdrenal hypoplasia congenita (AHC) is a rare condition and causes primary adrenal insufficiency. X-linked (OMIM 300200) and autosomal recessive (OMIM 240200) forms are recognized. Recently, an association between Intrauterine growth restriction. Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described. We present the clinical features of two sisters with intrauterine growth restriction, AHC, and dysmorphic features. Interesting histopathologic findings of one sister are also presented. We suggest that IMAGe syndrome is the most plausible diagnosis and that autosomal recessive inheritance is likely. We analyzed genes that were postulated candidates for IMAGe syndrome (SF1, DAX-1, and STAR), and no mutations were found. Other cases of IMAGe syndrome are reviewed. © 2006 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/170372
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorTan, TYen_US
dc.contributor.authorJameson, JLen_US
dc.contributor.authorCampbell, PEen_US
dc.contributor.authorEkert, PGen_US
dc.contributor.authorZacharin, Men_US
dc.contributor.authorSavarirayan, Ren_US
dc.date.accessioned2012-10-30T06:07:52Z-
dc.date.available2012-10-30T06:07:52Z-
dc.date.issued2006en_US
dc.identifier.citationAmerican Journal Of Medical Genetics, Part A, 2006, v. 140 n. 16, p. 1778-1784en_US
dc.identifier.issn1552-4825en_US
dc.identifier.urihttp://hdl.handle.net/10722/170372-
dc.description.abstractAdrenal hypoplasia congenita (AHC) is a rare condition and causes primary adrenal insufficiency. X-linked (OMIM 300200) and autosomal recessive (OMIM 240200) forms are recognized. Recently, an association between Intrauterine growth restriction. Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described. We present the clinical features of two sisters with intrauterine growth restriction, AHC, and dysmorphic features. Interesting histopathologic findings of one sister are also presented. We suggest that IMAGe syndrome is the most plausible diagnosis and that autosomal recessive inheritance is likely. We analyzed genes that were postulated candidates for IMAGe syndrome (SF1, DAX-1, and STAR), and no mutations were found. Other cases of IMAGe syndrome are reviewed. © 2006 Wiley-Liss, Inc.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_US
dc.relation.ispartofAmerican Journal of Medical Genetics, Part Aen_US
dc.subject.meshAdrenal Glands - Abnormalitiesen_US
dc.subject.meshAdrenal Insufficiency - Congenital - Diagnosis - Geneticsen_US
dc.subject.meshFatal Outcomeen_US
dc.subject.meshFemaleen_US
dc.subject.meshFinger Phalanges - Abnormalities - Radiographyen_US
dc.subject.meshFollow-Up Studiesen_US
dc.subject.meshGenes, Recessiveen_US
dc.subject.meshGenes, X-Linkeden_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMetacarpal Bones - Abnormalities - Radiographyen_US
dc.subject.meshRibs - Abnormalities - Radiographyen_US
dc.subject.meshSiblingsen_US
dc.subject.meshSyndromeen_US
dc.subject.meshUltrasonography, Prenatalen_US
dc.titleTwo sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature reviewen_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.doi10.1002/ajmg.a.31365en_US
dc.identifier.pmid16835919-
dc.identifier.scopuseid_2-s2.0-33746658040en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33746658040&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume140en_US
dc.identifier.issue16en_US
dc.identifier.spage1778en_US
dc.identifier.epage1784en_US
dc.identifier.isiWOS:000239405000010-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridJameson, JL=7102436615en_US
dc.identifier.scopusauthoridCampbell, PE=36824890300en_US
dc.identifier.scopusauthoridEkert, PG=7004242081en_US
dc.identifier.scopusauthoridZacharin, M=7003745883en_US
dc.identifier.scopusauthoridSavarirayan, R=7003566196en_US

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