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

Sohn YB, Yim SY, Cho EH, Kim OH - J. Korean Med. Sci. (2015)

Bottom Line: Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.

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.

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Related in: MedlinePlus

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.
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Figure 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.

Mentions: An 8-yr-old boy was referred to the department of medical genetics on February 25, 2014 for severe global developmental delay and multiple exostosis detected in radiologic check up. The patient was born to healthy nonconsanguineous Korean parents after 40 weeks gestation with birth weight of 2,400 g (<3 percentile). He had no perinatal problem. His developmental delay was noted when he was 3 month of age because of incomplete eye contact and head control. Physical examination revealed hypotonia, ptosis, nystagmus and microcephaly with craniosynostosis. Given the child's developmental delay and craniofacial dysmorphism, peripheral blood chromosome analaysis was done and the karyotype was 46,XY. At the age of 8 month, He had expansion cranioplasty for craniosynostosis. His developmental delay became profound. At 45 months, he could neither sit alone nor saying a meaningful word. Surgery for strabismus was performed. When he was at age 5 yr, he received Korean-Wechsler Preschool and Primary Scale of Intelligence (K-WPPSI) testing. His full-scale Intelligence Quotient (IQ) composited score of less than 30, considered severe intellectual disability. By Social Maturity Scale (SMS), his social quotient (SQ) was 17.8 and social age was measured as 0.91 yr. At 6 yr, protrusions of the right wrist and knee were noted. Skeletal survey revealed multiple exostoses throughout the long bones (Fig. 1). However, the underlying cause of the multiple exostoses was not found at that time. At 8 yr, the progression of multiple exostoses was noted and the patient had thoroughly re-evaluated the clinical data and radiographs taken from the age of 4 months. Initial skull radiographs and 3D reconstructed image showed premature craniosynostosis of the coronal suture and large biparietal foramina (Fig. 2A). Brain MRI revealed cortical atrophy with mild ventriculomegaly. Because of premature craniosynostosis, he received expansion cranioplasty of the coronal suture at age 6 months. Follow-up skull examination at age 8 yr showed persistent biparietal foramina but much decreased in size (Fig. 2B). Physical examination at age 6 yr, his growth was severely retarded, height was 96 cm (<3 percentile), weight was 15.7 kg (<3 percentile), and head circumference was 45 cm (<3 percentile). Facial features showed sparse eyebrows, nystagmus, prominent nasal bridge, hypoplastic nare, down turned mouth and high arched palate. The patient was hypotonic. He could not sit or walk alone. Review of the chart, diagnosis was craniosynostosis and mental retardation only.


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

Sohn YB, Yim SY, Cho EH, Kim OH - J. Korean Med. Sci. (2015)

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.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4310950&req=5

Figure 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.
Mentions: An 8-yr-old boy was referred to the department of medical genetics on February 25, 2014 for severe global developmental delay and multiple exostosis detected in radiologic check up. The patient was born to healthy nonconsanguineous Korean parents after 40 weeks gestation with birth weight of 2,400 g (<3 percentile). He had no perinatal problem. His developmental delay was noted when he was 3 month of age because of incomplete eye contact and head control. Physical examination revealed hypotonia, ptosis, nystagmus and microcephaly with craniosynostosis. Given the child's developmental delay and craniofacial dysmorphism, peripheral blood chromosome analaysis was done and the karyotype was 46,XY. At the age of 8 month, He had expansion cranioplasty for craniosynostosis. His developmental delay became profound. At 45 months, he could neither sit alone nor saying a meaningful word. Surgery for strabismus was performed. When he was at age 5 yr, he received Korean-Wechsler Preschool and Primary Scale of Intelligence (K-WPPSI) testing. His full-scale Intelligence Quotient (IQ) composited score of less than 30, considered severe intellectual disability. By Social Maturity Scale (SMS), his social quotient (SQ) was 17.8 and social age was measured as 0.91 yr. At 6 yr, protrusions of the right wrist and knee were noted. Skeletal survey revealed multiple exostoses throughout the long bones (Fig. 1). However, the underlying cause of the multiple exostoses was not found at that time. At 8 yr, the progression of multiple exostoses was noted and the patient had thoroughly re-evaluated the clinical data and radiographs taken from the age of 4 months. Initial skull radiographs and 3D reconstructed image showed premature craniosynostosis of the coronal suture and large biparietal foramina (Fig. 2A). Brain MRI revealed cortical atrophy with mild ventriculomegaly. Because of premature craniosynostosis, he received expansion cranioplasty of the coronal suture at age 6 months. Follow-up skull examination at age 8 yr showed persistent biparietal foramina but much decreased in size (Fig. 2B). Physical examination at age 6 yr, his growth was severely retarded, height was 96 cm (<3 percentile), weight was 15.7 kg (<3 percentile), and head circumference was 45 cm (<3 percentile). Facial features showed sparse eyebrows, nystagmus, prominent nasal bridge, hypoplastic nare, down turned mouth and high arched palate. The patient was hypotonic. He could not sit or walk alone. Review of the chart, diagnosis was craniosynostosis and mental retardation only.

Bottom Line: Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.

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.

Show MeSH
Related in: MedlinePlus