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The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.

DC Field Value Language
dc.contributor.authorSohn, YB-
dc.contributor.authorYim, SY-
dc.contributor.authorCho, EH-
dc.contributor.authorKim, OH-
dc.date.accessioned2017-04-25T06:06:32Z-
dc.date.available2017-04-25T06:06:32Z-
dc.date.issued2015-
dc.identifier.issn1011-8934-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/13915-
dc.description.abstractPotocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)×1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.-
dc.language.isoen-
dc.subject.MESHChild-
dc.subject.MESHChromosome Deletion-
dc.subject.MESHChromosome Disorders/diagnosis-
dc.subject.MESHChromosome Disorders/diagnostic imaging-
dc.subject.MESHChromosome Disorders/genetics-
dc.subject.MESHChromosome Mapping-
dc.subject.MESHChromosomes, Human, Pair 11/diagnostic imaging-
dc.subject.MESHChromosomes, Human, Pair 11/genetics-
dc.subject.MESHCraniofacial Abnormalities/genetics-
dc.subject.MESHDevelopmental Disabilities/genetics-
dc.subject.MESHExostoses, Multiple Hereditary/diagnosis-
dc.subject.MESHExostoses, Multiple Hereditary/diagnostic imaging-
dc.subject.MESHExostoses, Multiple Hereditary/genetics-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMuscle Hypotonia/genetics-
dc.subject.MESHOligonucleotide Array Sequence Analysis-
dc.subject.MESHRadiography-
dc.subject.MESHRare Diseases/genetics-
dc.subject.MESHRepublic of Korea-
dc.titleThe first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.-
dc.typeArticle-
dc.identifier.pmid25653495-
dc.identifier.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310950/-
dc.contributor.affiliatedAuthor손, 영배-
dc.contributor.affiliatedAuthor임, 신영-
dc.type.localJournal Papers-
dc.identifier.doi10.3346/jkms.2015.30.2.214-
dc.citation.titleJournal of Korean medical science-
dc.citation.volume30-
dc.citation.number2-
dc.citation.date2015-
dc.citation.startPage214-
dc.citation.endPage217-
dc.identifier.bibliographicCitationJournal of Korean medical science, 30(2). : 214-217, 2015-
dc.identifier.eissn1598-6357-
dc.relation.journalidJ010118934-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Journal Papers > School of Medicine / Graduate School of Medicine > Physical Medicine & Rehabilitation
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