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Article: Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature

TitlePrenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature
Authors
Issue Date2005
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, 2005, v. 138 A n. 4, p. 369-373 How to Cite?
AbstractGomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies. It has been reported in ten. patients, five of whom are Brazilian. Rhombencephalosynapsis is a rare sporadic cerebellar anomaly comprising fusion of the cerebellar hemispheres with agenesis of the cerebellar vermis. Rhombencephalosynapsis is a constant feature of Gomez-Lopez-Hernandez syndrome. We present the clinical and imaging findings of a Caucasian male infant with Gomez-Lopez-Hernandez syndrome. Rhombencephalosynapsis was diagnosed with fetal magnetic resonance imaging (MRI) after an abnormally shaped small cerebellum was detected by antenatal ultrasound (US). Gomez-Lopez-Hernandez syndrome was diagnosed at age 6 weeks when parietal alopecia was noted. Prenatal imaging studies of Gomez-Lopez-Hernandez syndrome have not been published before. When rhombencephalosynapsis is diagnosed prenatally, the clinical features of Gomez-Lopez-Hernandez syndrome should be sought at postnatal review. Gomez-Lopez-Hernandez syndrome and isolated rhombencephalosynapsis may have a common etiology. © 2005 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/170351
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.authorMcgillivray, Gen_US
dc.contributor.authorGoergen, SKen_US
dc.contributor.authorWhite, SMen_US
dc.date.accessioned2012-10-30T06:07:44Z-
dc.date.available2012-10-30T06:07:44Z-
dc.date.issued2005en_US
dc.identifier.citationAmerican Journal Of Medical Genetics, 2005, v. 138 A n. 4, p. 369-373en_US
dc.identifier.issn1552-4825en_US
dc.identifier.urihttp://hdl.handle.net/10722/170351-
dc.description.abstractGomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies. It has been reported in ten. patients, five of whom are Brazilian. Rhombencephalosynapsis is a rare sporadic cerebellar anomaly comprising fusion of the cerebellar hemispheres with agenesis of the cerebellar vermis. Rhombencephalosynapsis is a constant feature of Gomez-Lopez-Hernandez syndrome. We present the clinical and imaging findings of a Caucasian male infant with Gomez-Lopez-Hernandez syndrome. Rhombencephalosynapsis was diagnosed with fetal magnetic resonance imaging (MRI) after an abnormally shaped small cerebellum was detected by antenatal ultrasound (US). Gomez-Lopez-Hernandez syndrome was diagnosed at age 6 weeks when parietal alopecia was noted. Prenatal imaging studies of Gomez-Lopez-Hernandez syndrome have not been published before. When rhombencephalosynapsis is diagnosed prenatally, the clinical features of Gomez-Lopez-Hernandez syndrome should be sought at postnatal review. Gomez-Lopez-Hernandez syndrome and isolated rhombencephalosynapsis may have a common etiology. © 2005 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 Geneticsen_US
dc.subject.meshAbnormalities, Multiple - Pathologyen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMagnetic Resonance Imaging - Methodsen_US
dc.subject.meshSyndromeen_US
dc.titlePrenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literatureen_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.30967en_US
dc.identifier.pmid16158443-
dc.identifier.scopuseid_2-s2.0-27444438899en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-27444438899&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume138 Aen_US
dc.identifier.issue4en_US
dc.identifier.spage369en_US
dc.identifier.epage373en_US
dc.identifier.isiWOS:000232937800011-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridMcGillivray, G=8985369800en_US
dc.identifier.scopusauthoridGoergen, SK=6701843821en_US
dc.identifier.scopusauthoridWhite, SM=35480530300en_US

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