No abstract available.
Humans ; Osteochondrodysplasias*

Maffuci's syndrome is characterized by defects in cartilage bone formation (dyschondroplasia) with subcutaneous multiple vascular hemangiomas, and often with enchondromas. More than 120 cases of this syndrome, which was first described by Maffucci in 1881, has been reported. But intracranial tumors are rare complication of this syndrome. In this paper we describe the 6th case in the world report of Maffucci's syndrome complicated by an intracranial tumor, which was confirmed histologically as a chondroma, and review the literature with regard to this rare complication of Maffucci's syndrome.
Cartilage ; Chondroma* ; Hemangioma ; Osteochondrodysplasias ; Osteogenesis ; Sphenoid Bone

Tracheobronchopathia osteochondroplastica (TO) is a rare benign disease of trachea characterized by numerous osseocartilaginous nodules protruding into the tracheobronchial lumen. The etiology of TO is unknown; however, an association with upper respiratory diseases such as atrophic rhinitis has been suggested. The authors report a case of TO with atrophic rhinitis with related literatures.
Osteochondrodysplasias ; Rhinitis, Atrophic ; Trachea ; Tracheal Diseases

Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings are characterized by narrow intervertebral disc spaces and moderate epiphyseal dysplasia of long bones. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2, the disease-causing gene of SEDT. This is the first Korean report with SEDT confirmed by genetic testing.
Frameshift Mutation ; Genetic Testing ; Humans ; Intervertebral Disc ; Osteochondrodysplasias ; Thorax

Tracheobronchopathia osteochondroplastica (TO) is an uncommon benign disease of an unknown etiology and it affects the cartilaginous walls of large airways. Most cases of TO have been reported to involve the lower two-thirds of the trachea and the proximal bronchi. Unlike the usual cases of TO, exclusive bronchial involvement and the formation of a solitary mass are very rare. We experienced an unusual case that had exclusive bronchial involvement and the formation of a solitary mass and this all mimicked lung malignancy. After surgical resection, we were finally able to diagnose the mass as bronchopathia osteochondroplastica.
Bronchi ; Cartilage Diseases ; Lung ; Lung Neoplasms ; Osteochondrodysplasias ; Trachea ; Tracheal Diseases

OBJECTIVE: To explore the genetic basis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome. METHODS: Whole exome sequencing and Sanger sequencing were carried out to detect potential pathogenic variants associated with the syndrome. The function of candidate variant was verified by Western blotting. RESULTS: A novel homozygous variant, c.1222delG of the DYM gene was detected in the two affected siblings, for which both parents were heterozygous carriers. The variant has caused replacement of Asp by Met at amino acid 408 and generate a premature stop codon p.Asp408Metfs*10. Western blotting confirmed that the variant can result in degradation of the mutant DYM protein, suggesting that it is a loss of function variant. CONCLUSION The homozygous c.1222delG frameshift variant of the DYM probably underlay the Dyggve-Melchior-Clausen syndrome in the two affected siblings. Above findings has enabled clinical diagnosis and genetic counseling for the family.
China ; Dwarfism/genetics* ; Humans ; Intellectual Disability ; Osteochondrodysplasias/genetics* ; Pedigree

Cochlear Implantation ; Cochlear Implants ; Forehead/abnormalities* ; Humans ; Mutation ; Osteochondrodysplasias/genetics*

Humans ; East Asian People ; Genetic Profile ; Mutation ; Osteochondrodysplasias/genetics*

OBJECTIVE: To analyze the clinical features and genotype of a child with Schmid type metaphyseal chondrodysplasia. METHODS: Clinical data of the child and her parents was collected. The child was subjected to high-throughput sequencing, and candidate variant was verified by Sanger sequencing of her family members. RESULTS: Whole exome sequencing revealed that the child has harbored a heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene, which was not found in either of her parents. The variant was not found in the HGMD and ClinVar databases, and was rated as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION The heterozygous c.1772G>A (p.C591Y) variant of the COL10A1 gene probably underlay the Schmid type metaphyseal chondrodysplasia in this child. Genetic testing has facilitated the diagnosis and provided a basis for genetic counselling and prenatal diagnosis for this family. Above finding has also enriched the mutational spectrum of the COL10A1 gene.
Humans ; Child ; Female ; Mutation ; Osteochondrodysplasias/diagnosis* ; Heterozygote ; Molecular Biology

OBJECTIVETo analyze the clinical manifestation, diagnosis and treatment of Schwartz-Jampel syndrome (SJS).

METHODThe clinical data, including demographic, laboratory tests (creatase, creatine kinase, etc.) and electromyography of 4 children with SJS were analyzed.

RESULTAll the 4 patients were male. The age of onset was from 0.5 to 1.25 years (average 0.83 years). The onset of 4 patients was insidious, the age to see doctor was from 2.17 to 10 years (average 5.92 years), body height was less than the third percentile rank in the children of same age and gender, they presented with facial expression stiffness, microstomia, difficult in opening mouth, blepharophimosis, limbs stiffness and, so formed a characteristic phenotype. Investigations showed the creatase in serum increased, creatine kinase (CK): 229 - 1039 U/L (normal value < 200 U/L), Creatine Kinase MB (CK-MB): 30 - 45 U/L (normal value < 25 U/L), lactate dehydrogenase (LDH): 455 - 716 U/L (normal value < 240 U/L). General myotonia potential was found in electromyography, osteoarticular deformities in medical imaging, and muscle biopsy in 2 patients showed type I muscle fibers differed in size and were disproportionate. All the patients took oral vitamin B, and received rehabilitation training, 1 patient took carbamazepine for 1 month, blepharophimosis and limbs stiffness was improved.

CONCLUSIONSJS is a rare autosomal recessive inherited disease. Clinical manifestations of SJS are characteristic facies, skeletal abnormalities, generous myotonia and short stature. Carbamazepine is effective for treatment.