Melorheostosis is a very rare sclerosing bone disease with pain, joint stiffness, and limitation of motion. Its characteristic on radiography is a dense bone formation along the side of the bone, resembling the flow of candle grease. Various conservative or surgical methods have been practiced in treating pain and deformities. This is a report on the successful treatment result of six cases of melotheostosis, involving the metatarsal, metacarpal, clavicle, and tibia, which weretreated by conservative and operative treatment methods.
Arthralgia ; Bone Diseases ; Clavicle ; Congenital Abnormalities ; Melorheostosis* ; Metatarsal Bones ; Osteogenesis ; Radiography ; Tibia

We present here the case of a 12-year-old boy who had Klippel-Feil syndrome with renal, cardiac and multiple skeletal anomalies, and we show the relevent three-dimensional computed tomography images. Our patient had a triple renal pelvis, mitral valve prolapsus, multiple cervical vertebrae fusions, cervical ribs, hypoplasia of the right thumb, spina bifida of L5, lumbalization at the right side of S1 and a sacral curved defect. In this study, we discuss the atypical clinical features and the diagnostic value of three-dimensional CT for evaluating the skeletal anomalies of the Klippel-Feil syndrome cases.
*Tomography, X-Ray Computed ; Male ; Klippel-Feil Syndrome/*radiography ; Imaging, Three-Dimensional ; Humans ; Child ; Bone and Bones/abnormalities/radiography

We reviewed clinical manifestation of 12 patients from three Korean families. They showed mild to moderate bone fragility, and suggested an autosomal dominant inheritance pattern. Significant intrafamilial phenotype variability was obvious. Clinical, radiological, and histopathologic characteristics that distinguished this subtype from others include ossification of interosseous membrane of the forearm with radial head dislocation, hyperplastic callus formation, no evidence of type I collagenopathy and an abnormal histopathologic pattern. Severity of the interosseous membrane ossification was correlated with increasing age (p<0.01) and the radial head dislocation was thought to be a developmental problem rather than a congenital problem. Four children who had bisphosphonate treatment showed improved bone mineral density, radiological changes, and biochemical responses. Osteogenesis imperfecta type V was a distinctive subtype of osteogenesis imperfecta, which caused mild to moderate disability clinically.
Range of Motion, Articular ; Pedigree ; Osteogenesis Imperfecta/genetics/*pathology/physiopathology ; Middle Aged ; Male ; Infant ; Humans ; Fractures, Bone/radiography ; Female ; Family Health ; Dislocations/radiography ; Child, Preschool ; Child ; Bone and Bones/abnormalities/*radiography ; Aged ; Adult

Solid freeform techniques are revolutionising technology with great potential to fabricate highly organized biodegradable scaffolds for damaged tissues and organs. Scaffolds fabricated via Solid freeform (SFF) techniques have more pronounced effect in bone tissue engineering. SFF techniques produce various types of scaffolds from different biomaterials with specific pore size, geometries, orientation, interconnectivity and anatomical shapes. Scaffolds needs to be designed from such biomaterials which can attach directly to natural tissues and mimic its properties, so ideally mechanical properties of scaffolds should be same as that of regenerating tissues for best results. The scaffolds designed without optimized mechanical properties would lead to the reduced nutrition diffusion within tissue engineered constructs (TECs) causing tissue necrosis. These scaffolds are mainly processed from ceramics and polymers like calcium phosphate, polydioxane, €-polycaprolactone, polylactic and polyglycolic acids etc. While, hydrogel scaffolds provide bridge for encapsulated cells and tissues to integrate with natural ECM. Likewise, 2D images from radiography were not sufficient for the prediction of the brain structure, cranial nerves, vessel and architecture of base of the skull and bones, which became possible using the 3D prototyping technologies. Any misrepresentation can lead to fatal outcomes. Biomodelling from these techniques for spinal surgery and preoperative planning are making its way toward successful treatment of several spinal deformities and spinal tumor. In this review we explored laser based and printing SFF techniques following its methodologies, principles and most recent areas of application with its achievements and possible challenges faced during its applications.
Biocompatible Materials ; Bone and Bones* ; Brain ; Calcium ; Ceramics ; Congenital Abnormalities ; Cranial Nerves ; Diffusion ; Fatal Outcome ; Hydrogel ; Necrosis ; Polyglycolic Acid ; Polymers ; Printing, Three-Dimensional ; Radiography ; Skull

Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many countries but not in Korea. We examined a three-year old Korean girl who had the typical clinical features of HVDRR including rickets, hypocalcemia, hypophosphatemia, elevated serum calcitriol level and secondary hyperparathyroidism. The girl and her father were both heterozygous for the 719 C-to-T (I146T) mutation in exon 4, whereas she and her mother were both heterozygous for 754 C-to-T (R154C) mutation in exon 5 of the VDR gene. In this familial study, we concluded that the girl had compound heterozygous mutations in her VDR gene which caused HVDRR. This is the first report of a unique mutation in the VDR gene in Korea.
Asian Continental Ancestry Group/*genetics ; Base Sequence ; Bone and Bones/abnormalities/radiography ; Child, Preschool ; DNA Mutational Analysis ; Exons ; Female ; Heterozygote ; Humans ; Hypophosphatemic Rickets, X-Linked Dominant/*genetics/radiography ; Point Mutation ; Receptors, Calcitriol/*genetics ; Republic of Korea

OBJECTIVETo analyze the clinical manifestations, bone X-ray findings and genetic analysis results of three short-limb inherited short stature diseases: achondroplasia (ACH), hypochondroplasia (HCH) and pseudoachondroplasia (PSACH).

METHODSThe clinical manifestations, bone X-ray findings, and genetic analysis results of 10 children with genetically confirmed short-limb inherited short stature diseases, including 4 cases of ACH 3 cases of HCH, and 3 cases of PSACH, were analyzed.

RESULTSThe 10 patients had a mean body height of -3.69±1.79 SD, a mean sitting height/standing height ratio of 0.65±0.03, and a mean finger spacing/body height ratio of 0.93±0.04. Four ACH cases and 3 PSACH cases showed typical bone X-ray findings; one HCH case showed a smaller sciatic notch, and another HCH case showed no widening of interpedicular distance. G380R mutation in FGFR3 gene was detected in 3 of 4 ACH cases, and Y278C mutation in the other ACH case, N540K mutation in FGFR3 gene was detected in 3 HCH cases, and heterozygous mutations in COMP gene were detected in 3 PSACH cases.

CONCLUSIONSChildren with ACH and PSACH have severer short stature and skeletal deformities than children with HCH, who have mild, atypical clinical manifestations. Bone X-ray and genetic analysis are helpful for the diagnosis and differential diagnosis of the three diseases. The mutational hotspots in two genes are involved in the three diseases, which is conducive to clinical genetic diagnosis.

Achondroplasia ; diagnostic imaging ; genetics ; Bone and Bones ; abnormalities ; diagnostic imaging ; Child ; Child, Preschool ; Dwarfism ; diagnostic imaging ; genetics ; Female ; Humans ; Limb Deformities, Congenital ; diagnostic imaging ; genetics ; Lordosis ; diagnostic imaging ; genetics ; Male ; Mutation ; Radiography ; Receptor, Fibroblast Growth Factor, Type 3 ; genetics

OBJECTIVETo investigate the clinical characteristics, diagnosis and therapy of Keutel syndrome, and thereby to minimize the misdiagnosis.

METHODData of a case of Keutel syndrome diagnosed at the Provincial Hospital Affiliated to Shandong University were analyzed and related literature were reviewed.

RESULTAn 8-month-26-day-old boy was presented with inspiratory and expiratory stridor and wheezing after movement on lung auscultation. His craniofacial appearance was characterized by midfacial hypoplasia with a broad depressed nasal bridge. The nose was small and flat. A grade 2-3/6 systolic murmur was heard between the second and third ribs at left edge of the sternum. The end phalanges of his fingers were thickened. Chest radiograph showed tracheobronchial cartilage calcification and tracheobronchial stenosis. Echocardiographic examination revealed the right pulmonary stenosis. With endoscopic surgery, antiobstructive and antibiotic therapy clinical symptoms were improved. Three weeks later he died of lung reinfection after he was discharged from our hospital. English literature search with "Keutel syndrome" as the key word at "PubMed" showed 22 articles covering 26 patients, and the clinical symptoms were hearing loss (91%), persistent respiratory symptoms (68%), recurrent otitis media/sinusitis (67%), growth development delay (52%) in turn, and signs were brachytelephalangism (100%), low nasal bridge (95%), midfacial hypoplasia (93%), cardiac murmur (69%), and auxiliary examinations showed abnormal cartilage calcification (100%), pulmonary arterial stenosis (72%), tracheobronchial stenosis (50%).

CONCLUSIONThe diagnosis of Keutel syndrome should be considered in patients with brachytelephalangism, abnormal cartilage calcification, peripheral pulmonary stenosis, and midfacial hypoplasia. Tracheal stenosis was main clinical manifestation in part of patients.

Abnormalities, Multiple ; diagnosis ; diagnostic imaging ; therapy ; Bone and Bones ; diagnostic imaging ; Calcinosis ; diagnosis ; diagnostic imaging ; therapy ; Cartilage ; diagnostic imaging ; Cartilage Diseases ; diagnosis ; diagnostic imaging ; therapy ; Diagnosis, Differential ; Hand Deformities, Congenital ; diagnosis ; diagnostic imaging ; therapy ; Humans ; Infant ; Male ; Pulmonary Valve Stenosis ; diagnosis ; diagnostic imaging ; therapy ; Radiography, Thoracic ; Retrospective Studies ; Tomography, X-Ray Computed ; Tracheal Stenosis ; diagnosis ; diagnostic imaging