J Korean Med Sci.  2015 Feb;30(2):214-217. 10.3346/jkms.2015.30.2.214.

The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses

  • 1Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.
  • 2Department of Physical Medicine and Rehabilitation, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.
  • 3Green Cross Genome, Yongin, Korea.
  • 4Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea. kimoh5828@gmail.com


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.


Potocki-Shaffer Syndrome; Chromosomal Microarray; Multiple Exostosis; Parietal Foramina

MeSH Terms

Chromosome Deletion
Chromosome Disorders/diagnosis/*genetics/radiography
Chromosome Mapping
Chromosomes, Human, Pair 11/genetics/radiography
Craniofacial Abnormalities/genetics
Developmental Disabilities/genetics
Exostoses, Multiple Hereditary/diagnosis/*genetics/radiography
Muscle Hypotonia/genetics
Oligonucleotide Array Sequence Analysis
Rare Diseases/*genetics
Republic of Korea


  • Fig. 1 Skeletal survey of long bones at age 6 yr. Multiple exostoses (arrows) of the metadiaphyseal portion of the humerus (A), wrists (B), and proximal femora (C) and at the distal femora and proximal tibia and fibula are evident.

  • Fig. 2 Serial changes of biparietal foramena in the skull. Frontal (A) and Lateral (B) radiographs taken at age 4 months. Large biparietal foramina are noted (arrows). 3-D reconstruction image (C) of the skull at age 4 months shows enlarged biparietal foramina acrossing midline (arrows). Follow up skull 3-D reconstruction image (D) at age 8 yr shows persistent biparietal foramina (arrows).

  • Fig. 3 Result of chromosomal microarray. The red bar indicates an 8.6 Mb deletion at 11p11.2p12 including EXT2, ALX4, and PHF21A.


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