Bone and Bones ; pathology ; Humans ; Immunologic Deficiency Syndromes ; diagnosis ; Osteochondrodysplasias ; diagnosis

Child, Preschool ; Dwarfism ; congenital ; diagnosis ; Humans ; Male ; Osteochondrodysplasias ; congenital

Child ; Humans ; Karyotyping ; Male ; Osteochondrodysplasias ; classification ; diagnosis ; genetics

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.

Adolescent ; China ; Female ; Humans ; Male ; Osteochondrodysplasias ; diagnosis ; pathology ; Pedigree

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

OBJECTIVEX-linked spondyloepiphyseal dysplasia tarda (SEDL) is a rare osteochondrodysplasia caused by mutations of SEDL gene, which usually onset in late childhood without systemic complications. In this study, we have provided prenatal diagnosis for an affected family with a combined strategy including direct sequencing, fetal-sex identification and microsatellite linkage analysis.

METHODSTwo amniotic fluid samples from carrier gravida and 7 blood samples from individuals in this SEDL pedigree were obtained. Genomic DNA was extracted from the samples using standard phenol-chloroform method. SRY and AMEL genes were employed to assess fetal sex. Microsatellite DXS16 was genotyped for linkage analysis. A pathogenic mutation of the SEDL gene was identified by bi-directionally direct sequencing of the third exon as well as its exon/intron boundaries.

RESULTSTwo male fetuses were confirmed by fetal-sex assessment. The mutation of the SEDL gene was identified as a nucleotide substitution of the splice acceptor site in intron 2, IVS2-2A>C. DNA sequencing indicated that one fetus is hemizygote carrying the mutation, whilst another is not a carrier. Linkage analysis was identical with the sequencing results. Follow-up also confirmed the result of prenatal diagnosis.

CONCLUSIONFetal-sex assessment combined with microsatellite linkage analysis and bi-directionally direct sequencing is a more accurate and ready strategy for prenatal diagnosis of families affected with SEDL.

Tracheobronchopathia osteochondroplastica (TO) is a rare and benign disorder of unknown cause affecting the large airways. It is characterized by the presence of multiple osseous and cartilaginous nodules in the submucosa of the trachea and main bronchi that is characterized by the progression of submucosal bone and/or cartilage including nodules through the lumen of trachea and bronchus. We present four cases that were diagnosed TO while investigating for the causes of hemoptysis and chronic cough. We plan to emphasize TO in differential diagnosis in proper patients.
Adult ; Female ; Humans ; Male ; Middle Aged ; Osteochondrodysplasias ; diagnosis ; Tracheal Diseases ; diagnosis

Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Osteochondrodysplasias ; diagnosis ; diagnostic imaging ; surgery ; Radiography ; Young Adult

A case of Maffucci's syndrome, which was considered to be a first case reported in Korean literature, was presented with review of literatures. The patient, 17 years old Korean girl, had muliple cutaneous cavernous type hemangioma on the right foot and ankle area with an enchondroma in the third toe which showed slight shortening of length and abnormality on bone X-ray study. Authors presented this case with the results of histopathological examination of the skin and bones and right side femoral angiography for establishment of the diagnosis.
Adolescent ; Angiography ; Ankle ; Chondroma ; Diagnosis ; Female ; Foot ; Hemangioma ; Humans ; Osteochondrodysplasias* ; Skin ; Toes