The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses
Journal of Korean Medical Science
; : 214-217, 2015.
Article
ي En
| WPRIM
| ID: wpr-141142
المكتبة المسؤولة:
WPRO
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)x1]. 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.
Key words
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Chromosomes, Human, Pair 11
/
Developmental Disabilities
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Exostoses, Multiple Hereditary
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Chromosome Deletion
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Chromosome Mapping
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Craniofacial Abnormalities
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Oligonucleotide Array Sequence Analysis
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Chromosome Disorders
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Rare Diseases
/
Republic of Korea
نوع الدراسة:
Prognostic_studies
المحددات:
Child
/
Humans
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Male
البلد/الأقليم حسب الموضوع:
Asia
اللغة:
En
مجلة:
Journal of Korean Medical Science
السنة:
2015
نوع:
Article