Craniodiaphyseal dysplasia is a rare hereditary bone dysplasia characterized by craniofacial hyperostosis anddiaphyseal dysplatic changes. We reviewed the clinical, radiologic and laboratory features of one such case.
Bone Diseases, Developmental ; Hyperostosis

Delayed presentation of Developmental Dysplasia of Hip (DDH) comes with challenges in treatment as well as high surgical cost. Therefore the objective of this study is to quantify the economic impact of management of late presentation of DDH during a last 3-year period. We conducted a retrospective study with analysis of DDH cases managed between years 2012 to 2014. Early and late presentations of DDH were identified and cost management for both was estimated. Out of twenty-four DDH cases, thirteen cases fulfilled the inclusion criteria. All were female with majority of them presenting with unilateral DDH predominantly of the left hip. Most patients presented after age of six months and the principal complaint was abnormal or limping gait. The grand total cost for managing DDH during the three years period was USD 12,385.51, with 86% of the amount having been used to manage late presentation of DDH that was mostly contributed by the cost of surgery. We concluded that delayed presentation of DDH contributes heavily to high national expenditure. Early detection of DDH cases with systematic neonatal screening may help to minimize the incidence of the late presenting DDH and subsequently reduce the economic burden to the government.
Bone Diseases, Developmental

No abstract available.
Bone Diseases, Developmental ; Craniofacial Abnormalities ; Hyperostosis ; Hypertelorism

Osteofibrous dysplasia is a kind of innocent bone tumor derived from fibrous tissue. Its pathogens has not been identified, it rarely affects the temporal bone, its clinical manifestations mainly is hearing loss. Imageological examination, for example, CT and MRI, is valuable for the diagnosis of this disease,the histopathological evidence is absolutely necessary to make definite diagnosis. Surgery is an effective method to treat the fibrous dysplasia of temporal bone.
Adult ; Bone Diseases, Developmental ; Female ; Fibrosis ; Humans ; Temporal Bone ; pathology

Craniodiaphyseal dysplasia is a rare hereditary bone dysplasia, transmitted as autosomal recessive trait. This disorder is defined by Gorlin in 1969 as one of a family of severe bone disorders called "Craniotubular bone dysplasia", which is charaterized by massive and generalized hyperostosis and sclerosis, especially involving the skull facial bones. The major clinical features include marked craniofacial changes associated with bony overgrowth such as an enlarged head circumference, cranial nerve palsies and severe facial distortion. We experienced a case of craniodiaphyseal dysplasia in 2 year-9 month-old female patient who presented with typical clinical manifestation and radiologic findings nearly identical to those described by Gorlin. This is the first description of this rare disease in the Korean literature. Thus, we report a case of craniodiaphyseal dysplasia with brief related literature.
Bone Diseases, Developmental ; Cranial Nerve Diseases ; Facial Bones ; Female ; Head ; Humans ; Hyperostosis ; Rare Diseases ; Sclerosis ; Skull

Craniodiaphyseal dysplasia is a rare hereditary bone dysplasia, transmitted as autosomal recessive trait. This disorder is defined by Gorlin in 1969 as one of a family of severe bone disorders called "Craniotubular bone dysplasia", which is charaterized by massive and generalized hyperostosis and sclerosis, especially involving the skull facial bones. The major clinical features include marked craniofacial changes associated with bony overgrowth such as an enlarged head circumference, cranial nerve palsies and severe facial distortion. We experienced a case of craniodiaphyseal dysplasia in 2 year-9 month-old female patient who presented with typical clinical manifestation and radiologic findings nearly identical to those described by Gorlin. This is the first description of this rare disease in the Korean literature. Thus, we report a case of craniodiaphyseal dysplasia with brief related literature.
Bone Diseases, Developmental ; Cranial Nerve Diseases ; Facial Bones ; Female ; Head ; Humans ; Hyperostosis ; Rare Diseases ; Sclerosis ; Skull

Adult ; Bone Diseases, Developmental ; Female ; Humans ; Osteitis Fibrosa Cystica ; Temporal Bone

Humans ; Adamantinoma/surgery* ; Bone Diseases, Developmental ; Bone Neoplasms/surgery* ; Tibia/surgery*

Melorheostosis is a rare disease, belonging to the sclerotic bone dysplasia group. Initially described by Leri and Joanny in 1922, its etiology remains unknown. Onset is usually insidious, with deformity of the extremity, pain, limb stiffness, and limitation of motion in the joints. The typical radiographic appearance consists of irregular hyperostotic changes of the cortex, resembling melted wax dripping down one side of a candle. Treatment is usually symptomatic and conservative; however, conservative treatment is unsatisfactory due to functional issues when involving the distal extremity. We report on two cases of melorheostosis with synovial chondromatosis of the foot treated by mass excision.
Ankle ; Bone Diseases, Developmental ; Chondromatosis, Synovial* ; Congenital Abnormalities ; Extremities ; Foot* ; Joints ; Melorheostosis* ; Rare Diseases

There is much confusion in orthopedic literature regarding the nature and significance of the so-called acetabular labrum in congenital dislocation of the hip. This experiment describes an animal model in which the relationship between eversion of the acetabular labrum and acetabular dysplasia with degeneration of the articular cartilage was studied. The acetabulum gradually become shallower and more vertically oriented and the femoral head gradually subluxed, but never dislocated. The radiographic appearance of the hip dysplasia was very similar to that seen in human beings. The animals remained asymptomatic without clinically visible signs of hip abnormality throughout the study. It was clearly demonstrated that there was substantial amounts of degenerative change in the articular cartilages of the subluxed hip with no evidence of degenerative change radiologically. It could be concluded that excision of the acetabular labrum should be avoided during open reduction of congenital dislocation of the hip.
Acetabulum/pathology* ; Animal ; Bone Diseases, Developmental/etiology* ; Dogs ; Hip Dislocation/complications* ; Osteoarthritis/etiology*