Publication:
Cardiac involvement in costello syndrome: Evaluation of six cases

dc.contributor.authorUysal, Fahrettin
dc.contributor.authorBostan, Özlem Mehtap
dc.contributor.authorSemizel, Evren
dc.contributor.authorAkaltun, Filiz
dc.contributor.authorÜner, Gülcan
dc.contributor.authorÇil, Ergün
dc.contributor.buuauthorUYSAL, FAHRETTİN
dc.contributor.buuauthorBOSTAN, ÖZLEM MEHTAP
dc.contributor.buuauthorAkaltun, Filiz
dc.contributor.buuauthorÜner, Gülcan
dc.contributor.buuauthorÇİL, ERGÜN
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Kardiyoloji Anabilim Dalı.
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı Anabilim Dalı.
dc.contributor.orcid0000-0001-7707-2174
dc.contributor.orcid0000-0003-3516-0082
dc.contributor.researcheridCCJ-6951-2022
dc.contributor.researcheridAAG-8558-2021
dc.contributor.researcheridAAH-4421-2021
dc.contributor.researcheridAAG-9324-2021
dc.contributor.researcheridGHF-4123-2022
dc.date.accessioned2024-09-26T11:47:37Z
dc.date.available2024-09-26T11:47:37Z
dc.date.issued2013-08-01
dc.description.abstractIntroduction: Costello syndrome is probably an autosomal dominant inherited disorder that is characterized by postnatal growth retardation, developmental delay, coarse facies, loose skin, nonprogressive cardiomyopathy and friendly behavior. The aim of this study was to evaluate a variety of clinical findings and cardiac involvement of six patients diagnosed as Costello syndrome.Materials and Methods: Six cases that had a typical features of Costello syndrome admitted to pediatric cardiology department due to cardiac murmur between 2002-2013 years were evaluated. Their complaints, clinical findings, treatments and clinical courses were examined.Results: Three of the patients were male and the mean age of patients was 34 +/- 12 months (7 months to 11 years). All of the cases had coarse faces, deep palmar and plantar creases, hypertelorism, epicanthal folds, depressed nasal bridges and cardiac murmur at auscultation. Congenital heart disease was found in all patients. Five patients had pulmonary stenosis and balloon pulmonary valvuloplasty was performed in 3 of these patients. Atrial septal defect was detected in 3 patients and 1 of the patient had hypertrophic cardiomyopathy. Mental retardation was found in 2 patients.Conclusions: Costello syndrome must be keep in mind in all patients with psychomotor retardation, coarse faces, sparse hairs, deep palmar and plantar creases, phenotypical features resembling a storage disease especially in association with pulmonary stenosis and hypertrophic cardiomyopathy.
dc.identifier.doi10.4274/Jcp.11.44153
dc.identifier.endpage67
dc.identifier.issn1304-9054
dc.identifier.issue2
dc.identifier.startpage63
dc.identifier.urihttps://doi.org/10.4274/Jcp.11.44153
dc.identifier.urihttps://guncelpediatri.com/articles/doi/Jcp.11.44153
dc.identifier.urihttps://hdl.handle.net/11452/45318
dc.identifier.volume11
dc.identifier.wos000422262900004
dc.indexed.wosWOS.ESCI
dc.language.isoen
dc.publisherGalenos Yayıncılık
dc.relation.journalGuncel Pediatri-Journal of Current Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCostello syndrome
dc.subjectCardiomyopathy
dc.subjectPulmonary valve stenosis
dc.subjectCoarse facies
dc.subjectStorage disease
dc.subjectPediatrics
dc.titleCardiac involvement in costello syndrome: Evaluation of six cases
dc.typeArticle
dspace.entity.typePublication
relation.isAuthorOfPublication3f01723b-f726-41a2-8b35-aafd1a9b1703
relation.isAuthorOfPublication11a8d258-960b-43e2-afd8-14f539da4b93
relation.isAuthorOfPublicationc1290103-4e68-434d-8c8b-4ad9bab13f02
relation.isAuthorOfPublication.latestForDiscovery3f01723b-f726-41a2-8b35-aafd1a9b1703

Files

Original bundle

Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
Uysal_vd_2013.PDF
Size:
592.65 KB
Format:
Adobe Portable Document Format

Collections