Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations of metaphyses, and delayed bone age. We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. This suggests the etiology of this disorder may be abnormal cartilage metabolism.
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View Article and Find Full Text PDF[Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
May 2024
Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276000, China.
Objective: To explore the clinical features and genetic etiology of a child with SPONASTRIME dysplasia (SD).
Methods: A 9-month-old female who had presented at the Linyi People's Hospital in August 2022 for short stature was selected as the study subject. Clinical data of the child were collected, and whole exome sequencing (WES) was carried out.
A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type.
Clin Dysmorphol
July 2021
Department of Medical Genetics, School of Medicine.
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
Hum Mol Genet
November 2020
Division of Medical Genetics, Fondazione IRCCS, Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Article Synopsis
- - SPONASTRIME dysplasia is a rare genetic disorder characterized by short stature, limb shortening, and distinctive facial features, linked to mutations in the TONSL gene, which plays a vital role in DNA repair.
- - A study on a 9-year-old girl with this condition revealed two novel mutations in TONSL, which were predicted to disrupt protein function and stability.
- - Further experiments showed that her cells had an increased rate of chromosomal breaks and problems with cell division, highlighting the disease's underlying genetic issues and paving the way for potential new treatments.
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Am J Hum Genet
March 2019
Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul 03080, Republic of Korea. Electronic address:
SPONASTRIME dysplasia is a rare, recessive skeletal dysplasia characterized by short stature, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis. No causative genetic alterations for SPONASTRIME dysplasia have yet been determined. Using whole-exome sequencing (WES), we identified bi-allelic TONSL mutations in 10 of 13 individuals with SPONASTRIME dysplasia.
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