title: The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.
abstract: Potocki-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.
authors: Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.
authors: Young Bae
authors: 0000-0002-4664-1941
authors: YB
authors: Sohn
authors: Department of Physical Medicine and Rehabilitation, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.
authors: Shin-Young
authors: 0000-0002-8521-6331
authors: SY
authors: Yim
authors: Green Cross Genome, Yongin, Korea.
authors: Eun-Hae
authors: 0000-0003-3056-0001
authors: EH
authors: Cho
authors: Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea.
authors: Ok-Hwa
authors: 0000-0001-5502-8746
authors: OH
authors: Kim
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000000981:diagnostic imaging / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D011859:Radiography; D035583:Rare Diseases / Q000235:genetics*; D056910:Republic of Korea
keywords: Chromosomal Microarray; Multiple Exostosis; Parietal Foramina; Potocki-Shaffer Syndrome
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