Pediatric

Absence of tibia is a rare birth defect characterized by a deficiency of the tibia while the other bones of the lower leg relatively intact. The deficiency may occur in one or both legs.  The right side is more commonly affected [72%]. Bilateral occurrence is found in about 30%. The absence of tibia could be […]

The juvenile spondyloarthritis is a group of HLA- B27 associated disorders which includes juvenile ankylosingspondylitiss and others. These are similar to adult spondyloarthropathies and juvenile onset means that these start before age 16. In the adult form, inflammatory low back pain is the predominant clinical symptom but the juvenile onset spondyloarthritis has peripheral enthesitis and […]

Congenital pseudarthrosis of tibia is an uncommon disease with clinical presentations ranging from simple anterolateral tibial angulation to complete non-union with extensive bone defects. It is a rare disease, with an estimated frequency of 1/150,000 births. Pseudarthrosis means false joint.  A relationship with type 1 neurofibromatosis or von Recklinghausen’s disease is known but exact pathophysiology […]

Cleidocranial dysostosis or dysplasia is a genetically transmitted skeletal dysplasia affecting mainly membranous bones. It is a relatively rare condition, first described by Marie and Fenton in 1897. The condition that primarily affects the development of the membranous bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the […]

Dysplasia epiphysealis hemimelica or Trevor disease rare, a non-hereditary disease characterized by osteochondromas arising from the epiphyses. The incidence is about 1 in 1 million. Males are three times more commonly affected than females. The condition was first described in 1926 by Mouchet and Belot and then by Trevor in 1950. The term dysplasia epiphysealis […]

Transient synovitis is the self-limiting painful hip condition that occurs due to inflammation of the synovium of the hip for a transient period. Other named of transient synovitis of the hip are toxic synovitis, irritable hip, transitory coxitis, coxitis fugax, acute transient epiphysitis, coxitis serosa simplex, phantom hip disease and observation hip. It is a […]

Dysplasia spondyloepophysealis congenita is characterized by a short-trunk type of dwarfism with the involvement of the spine and limb epiphyses, particularly the proximal ones. The radiological changes can be identified at birth, though the child may not always be diagnosed clinically at birth. Clinical Features of Dysplasia Spondyloepophysealis Congenita Dwarfism is present both in the […]

Dysplasia epiphysealis multiplex is an uncommon, but not rare developmental abnormality characterized by irregularity in the density and configuration of epiphyses with minimal involvement of the spine. The condition is not recognizable at birth and often does not present until the ages of 6 or 7 years with bilateral symmetrical abnormalities. The number of epiphyses […]

Dysplasia epiphysealis punctata is a rare condition characterized by the presence of stippled epiphyses at birth in association with other connective tissue disturbances. It is also known under a variety of names such as chondrodystrophia foetalis calcificans, stippled epiphyses, or congenital multiple epiphyseal dysplasia. It is also called Conradi Disease. Two main forms are recognized […]