File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: A novel syndrome

TitleObesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: A novel syndrome
Authors
Issue Date2007
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, 2007, v. 143 n. 2, p. 114-118 How to Cite?
AbstractWe describe in two brothers an apparently novel syndrome comprising obesity, congenital hypothyroidism, neonatal colitis, cardiac biventricular hypertrophy, craniosynostosis, and developmental delay. The first brother presented with neonatal colitis and congenital hypothyroidism and died at age 5 weeks of fulminant colitis. The second brother presented neonatally with the same condition, but survived and subsequently developed severe obesity, sagittal and coronal synostosis, and developmental delay. Both pregnancies had been complicated by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome). Exhaustive genetic and metabolic investigations have failed to provide a unifying pathogenesis. This unique combination of manifestations appears to represent a new syndrome with probable autosomal recessive or X-linked recessive inheritance. © 2006 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/170382
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.authorAmor, DJen_US
dc.date.accessioned2012-10-30T06:07:55Z-
dc.date.available2012-10-30T06:07:55Z-
dc.date.issued2007en_US
dc.identifier.citationAmerican Journal Of Medical Genetics, Part A, 2007, v. 143 n. 2, p. 114-118en_US
dc.identifier.issn1552-4825en_US
dc.identifier.urihttp://hdl.handle.net/10722/170382-
dc.description.abstractWe describe in two brothers an apparently novel syndrome comprising obesity, congenital hypothyroidism, neonatal colitis, cardiac biventricular hypertrophy, craniosynostosis, and developmental delay. The first brother presented with neonatal colitis and congenital hypothyroidism and died at age 5 weeks of fulminant colitis. The second brother presented neonatally with the same condition, but survived and subsequently developed severe obesity, sagittal and coronal synostosis, and developmental delay. Both pregnancies had been complicated by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome). Exhaustive genetic and metabolic investigations have failed to provide a unifying pathogenesis. This unique combination of manifestations appears to represent a new syndrome with probable autosomal recessive or X-linked recessive inheritance. © 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.meshCardiomegaly - Genetics - Metabolism - Pathologyen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshColitis - Genetics - Pathologyen_US
dc.subject.meshCraniosynostoses - Genetics - Metabolism - Pathologyen_US
dc.subject.meshDevelopmental Disabilities - Genetics - Metabolism - Pathologyen_US
dc.subject.meshFatal Outcomeen_US
dc.subject.meshHumansen_US
dc.subject.meshHypothyroidism - Genetics - Metabolism - Pathologyen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshInfant, Prematureen_US
dc.subject.meshInfant, Premature, Diseases - Genetics - Metabolism - Pathologyen_US
dc.subject.meshMaleen_US
dc.subject.meshObesity - Genetics - Metabolism - Pathologyen_US
dc.subject.meshSiblingsen_US
dc.subject.meshSyndromeen_US
dc.titleObesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: A novel syndromeen_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.31548en_US
dc.identifier.pmid17163533-
dc.identifier.scopuseid_2-s2.0-33845995878en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33845995878&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume143en_US
dc.identifier.issue2en_US
dc.identifier.spage114en_US
dc.identifier.epage118en_US
dc.identifier.isiWOS:000243357600003-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridAmor, DJ=7004097069en_US

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats