Osteoid osteoma is a benign bone tumor that rarely involves joints. Although there are several reports of arthroscopic osteoid osteoma excisions, to our knowledge, there are no reports of this type of treatment for osteoid osteoma in carpal bones. We report two cases of arthroscopic (a person who had a pain in the left wrist and the other one with carpal tunnel syndrome) with excision of oste...

Acampomelic campomelic dysplasia (CD) is a type of CD (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The be...

Campomelic dysplasia (CD) is a rare, neonatal human chondrodysplasia characterized by bowing of the long bones and often associated with male-to-female sex-reversal. Patients present with either heterozygous mutations in the SOX9 gene or chromosome rearrangements mapping at least 50 kb upstream of SOX9. Whereas mutations in SOX9 ORF cause haploinsufficiency, the effects of translocations 5' to ...

introduction: non-ossifying fibroma (nof) is a relatively common benign and non-neoplastic lesion in long bones of children and adolescents. as far as very few cases of nof have been reported in jaws and what was managed to be found regarding all reported cases having occurred only in the mandible, in this article we are going to report a case of maxillary nof in a 38-year-old female.

INTRODUCTION Osteogenesis imperfect (OI) is a heterogeneous and complex connective tissue disorder that manifests with low bone density and fragility. More than 15 types of OI have been distinguished on a clinical and molecular basis, but the classical clinical classification previously proposed in Types 1-4 with the recent inclusion of Type 5 appears to be more suitable. The diagnosis is mainl...

It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In such cases, a pregnancy may unexpectedly reveal hidden problems and special needs. A 28 year old primigravida was referred to us at 17 weeks for counselling with an undiagnosed skeletal dysplasia with specific skeletal anomalies suggesting the collagen 2 disorder, spondy...