developmental bone diseases


Summary: Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES.

Top Publications

  1. Colvin J, Bohne B, Harding G, McEwen D, Ornitz D. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet. 1996;12:390-7 pubmed
    ..Our results demonstrate that Fgfr3 is essential for normal endochondral ossification and inner ear development...
  2. Francomano C, McIntosh I, Wilkin D. Bone dysplasias in man: molecular insights. Curr Opin Genet Dev. 1996;6:301-8 pubmed
    ..The recognition of these phenomena has initiated the analysis of the relationship between disease phenotype and gene...
  3. Gelb B, Willner J, Dunn T, Kardon N, Verloes A, Poncin J, et al. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am J Hum Genet. 1998;62:848-54 pubmed
    ..This patient represents the first case of paternal uniparental disomy of chromosome 1 and provides conclusive evidence that paternally derived genes on human chromosome 1 are not imprinted...
  4. Tacconi P, Ferrigno P, Cocco L, Cannas A, Tamburini G, Bergonzi P, et al. Sclerosteosis: report of a case in a black African man. Clin Genet. 1998;53:497-501 pubmed
    ..This seems to be the first case of the disease in a black African individual, with no known relationship with Dutch ancestry...
  5. Passos Bueno M, Wilcox W, Jabs E, Sertié A, Alonso L, Kitoh H. Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat. 1999;14:115-25 pubmed
    ..In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions...
  6. Bi W, Huang W, Whitworth D, Deng J, Zhang Z, Behringer R, et al. Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization. Proc Natl Acad Sci U S A. 2001;98:6698-703 pubmed
    ..First, an early step presumably at the stage of mesenchymal condensation of cartilage primordia, and second, a later step preceding the transition of chondrocytes into hypertrophic chondrocytes...
  7. Ornitz D. FGF signaling in the developing endochondral skeleton. Cytokine Growth Factor Rev. 2005;16:205-13 pubmed
    ..In this review, I will focus on the role of FGF signaling in chondrocytes and osteoblasts and how FGFs regulate the growth and development of endochondral bone...
  8. Nishimura G. [Genetic basis for skeletal disease. Radiological approach for genetic skeletal disorders]. Clin Calcium. 2010;20:1175-81 pubmed publisher
    ..However, it is important to realize that a radiological diagnosis of bone dysplasias depends on an overall pattern of skeletal abnormalities rather than single radiological signs, alone or in combination...
  9. Inada M, Miyaura C. [Bone metabolisms of aromatase-knockout mice in male]. Clin Calcium. 2006;16:469-73 pubmed
    ..The complexities for use of estrogen and androgen in bone metabolisms may have distinct or synergistic roles of bone turnover in female and male mice before/after reaching to sexual maturity. ..

More Information

Publications111 found, 100 shown here

  1. Tezeren G, Tukenmez M, Bulut O, Cekin T, Percin S. One-stage combined surgery with or without preoperative traction for developmental dislocation of the hip in older children. J Orthop Surg (Hong Kong). 2006;14:259-64 pubmed
    ..One-stage combined surgery without preoperative traction is effective in the treatment of DDH in older children, and has a lower complication rate, but radiographically the groups did not differ. ..
  2. Singh M, Agrawal A, Tilak V, Singh N. Mucopolysaccharidosis type IV (Morquio syndrome). J Assoc Physicians India. 2007;55:434 pubmed
  3. Lombardi F, Fasciglione G, D Apice M, Vielle A, D Adamo M, Sbraccia P, et al. Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. Clin Genet. 2008;74:374-83 pubmed publisher
    ..These data suggest a possible involvement of MMP-9 in MADA disease, underlying the potential use in diagnosis and therapy. ..
  4. Krejci P, Salazar L, Kashiwada T, Chlebova K, Salasova A, Thompson L, et al. Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. PLoS ONE. 2008;3:e3961 pubmed publisher
    ..Other pathways such as ERK should therefore be considered as central to pathological FGFR3 signaling in cartilage. ..
  5. Smith A, Mehta S, Bullen P, Clayton Smith J. Osteocraniostenosis: a further case report documenting the antenatal findings. Clin Dysmorphol. 2007;16:117-20 pubmed
    ..Subsequent postnatal investigations confirmed the diagnosis of osteocraniostenosis. These antenatal findings have not been documented previously. We discuss both the antenatal and postnatal findings of this condition. ..
  6. Carrera I, Hammond G, Sullivan M. Computed tomographic features of incomplete ossification of the canine humeral condyle. Vet Surg. 2008;37:226-31 pubmed publisher
    ..IOHC is clearly defined by CT, and it should be considered in larger Spaniel breeds, with a chronic forelimb lameness or HCF. ..
  7. Johnsen K, Goll R, Reikeras O. Acetabular dysplasia in the Sami population: a population study among Sami in north Norway. Int J Circumpolar Health. 2008;67:147-53 pubmed
    ..A high prevalence of hip dysplasia was found in this Sami-dominant area. No significant association could be found between low back pain and dysplasia. ..
  8. Wise L, Winkelmann C. Micro-computed tomography and alizarin red evaluations of boric acid-induced fetal skeletal changes in Sprague-Dawley rats. Birth Defects Res B Dev Reprod Toxicol. 2009;86:214-9 pubmed publisher
  9. Theodorou S, Theodorou D, Sartoris D. Imaging characteristics of neoplasms and other lesions of the jawbones: part 2. Odontogenic tumor-mimickers and tumor-like lesions. Clin Imaging. 2007;31:120-6 pubmed
    ..In addition to imaging findings, thorough physical examination and, often, histologic analysis of biopsy specimens are required. ..
  10. Timoney P, Darcy F, McCreery K, Reardon W, Brosnahan D. Characterization of optical coherence topography findings in Kenny-Caffey syndrome. J AAPOS. 2007;11:291-3 pubmed
    ..6) We report two cases of Kenny-Caffey syndrome with an ellipsoid macular fold orientated horizontally involving the fovea and document this unusual feature with optical coherence topography (OCT). ..
  11. Deniz F, Koseoglu R. Osteopathia striata with cranial sclerosis and lumbar spinal stenosis. Acta Neurochir (Wien). 2007;149:811-5; discussion 815 pubmed
    ..This coexistence has not been previously reported in the medical literature. The possible mechanisms of this clinical association is discussed...
  12. Sabharwal S, Badarudeen S, McClemens E, Choung E. The effect of circular external fixation on limb alignment. J Pediatr Orthop. 2008;28:314-9 pubmed publisher
    ..Diagnostic level II. ..
  13. Spiegelberg B, Speigelberg B, Sewell M, Coltman T, Blunn G, Flanagan A, et al. Below-knee amputation through a joint-sparing proximal tibial replacement for recurrent tumour. J Bone Joint Surg Br. 2009;91:815-9 pubmed publisher
  14. Boulanger J, Larbrisseau A. Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience. Can J Neurol Sci. 2005;32:225-31 pubmed
    ..To date, few pediatric series of neurofibromatosis type 1 (NF-1) have been described in the literature even though it is the most frequently encountered phakomatosis...
  15. Chung C, Park M, Choi I, Cho T, Yoo W, Lee K. Morphometric analysis of acetabular dysplasia in cerebral palsy. J Bone Joint Surg Br. 2006;88:243-7 pubmed
    ..The acetabular volume was largest in the control group, smallest in the dislocation group, and intermediate between the two in the subluxation group. ..
  16. Vanden Berg Foels W, Todhunter R, Schwager S, Reeves A. Effect of early postnatal body weight on femoral head ossification onset and hip osteoarthritis in a canine model of developmental dysplasia of the hip. Pediatr Res. 2006;60:549-54 pubmed
    ..These results support the hypothesis that increased birth weight is sufficient to alter the course of hip development and result in measurable degenerative changes at adulthood. ..
  17. Pollock P, Gartside M, Dejeza L, Powell M, Mallon M, Davies H, et al. Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. Oncogene. 2007;26:7158-62 pubmed
    ..The discovery of activating FGFR2 mutations in endometrial carcinoma raises the possibility of employing anti-FGFR molecularly targeted therapies in patients with advanced or recurrent endometrial carcinoma. ..
  18. Ando A, Hatori M, Hosaka M, Hagiwara Y, Kita A, Ochiai T, et al. A patient with focal fibrocartilaginous dysplasia in the distal femur and review of the literature. Tohoku J Exp Med. 2008;215:307-12 pubmed
    ..As far as we know, there have been no descriptions of the bony fragment inside a lucent defect of the lesion. Radiological features may vary in the early phase of FFCD. ..
  19. Kugimiya F, Takato T, Chung U, Kawaguchi H, Nakamura K. [BMP mutant animals]. Nihon Rinsho. 2005;63 Suppl 10:414-7 pubmed
  20. Lauten S. Nutritional risks to large-breed dogs: from weaning to the geriatric years. Vet Clin North Am Small Anim Pract. 2006;36:1345-59, viii pubmed
    ..Management of health, including proper nutrition, exercise, and weight control, provides the best opportunity for successful aging of large- and giant-breed dogs. ..
  21. Johnsen K, Goll R, Reikeras O. Acetabular dysplasia as an aetiological factor in development of hip osteoarthritis. Int Orthop. 2009;33:653-7 pubmed publisher
    ..Only age had a statistically significant influence on OA. In this middle-aged Sámi population, there is no evidence for the influence of AD on the development of hip OA. ..
  22. Pye G. Shoulder dysplasia in koalas (Phascolarctos cinereus) at San Diego Zoo. J Zoo Wildl Med. 2009;40:453-7 pubmed
    ..Where shoulder and hip radiographs were both available (n = 60), 92% of individuals had correlation between the degree of shoulder and hip dysplasia...
  23. Yang C, Yang L, Wan M, Cao X. Generation of a mouse model with expression of bone morphogenetic protein type II receptor lacking the cytoplasmic domain in osteoblasts. Ann N Y Acad Sci. 2010;1192:286-91 pubmed publisher
    ..This study provides an in vivo tool to study the role of BMPRII in BMP/Smad signaling and the regulation of this pathway by PTH and Wnts. ..
  24. Koëter S, Pakvis D, van Loon C, van Kampen A. Trochlear osteotomy for patellar instability: satisfactory minimum 2-year results in patients with dysplasia of the trochlea. Knee Surg Sports Traumatol Arthrosc. 2007;15:228-32 pubmed
    ..In our opinion, the key to a successful treatment of patellofemoral instability is to successfully distinguish the anatomic deficiencies and to correct the anatomical abnormality. ..
  25. Phadke S, Patil S, Kumari N, Krishnani N. Spondylothoracic dysplasia: prenatal diagnosis and the problems of nosologic overlap. Am J Med Genet A. 2007;143A:899-902 pubmed
  26. Quenum Miraillet G, Malan V, Martinovic J, Encha Razavi F, Aral B, Texier I, et al. Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia. Prenat Diagn. 2008;28:69-71 pubmed publisher
  27. Flück C, Pandey A, Huang N, Agrawal V, Miller W. P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. Endocr Dev. 2008;13:67-81 pubmed publisher
    ..Thus, the impact of POR mutations on drug metabolism by hepatic P450s requires further investigation. ..
  28. Biant L, Bruce W, Assini J, Walker P, Walsh W. Primary total hip arthroplasty in severe developmental dysplasia of the hip. Ten-year results using a cementless modular stem. J Arthroplasty. 2009;24:27-32 pubmed publisher
    ..Six hips had osteolysis in Gruen zones 1 or 7 but none around or distal to the sleeve. The 10-year results of the S-ROM stem used in patients with osteoarthritis secondary to severe DDH are excellent. ..
  29. Tazi E, Essadi I, Serraj K, Ichou M, Errihani H. [Sacrum histoplasmosis 10 years after NHL of the sacrum: a case report]. Cancer Radiother. 2009;13:337-9 pubmed publisher
    ..The clinical and radiological investigations suggested a lymphomatous relapse but the pathological study showed histoplasmosis. Antifungal treatment was started with an encouraging evolution. ..
  30. Gavrankapetanovic I, Cobeljic G, Bajin Z, Vukasinovic Z, Gavrankapetanovic F. Developmental dysplasia of the hip in cerebral palsy--surgical treatment. Int Orthop. 2007;31:561-8 pubmed
    ..8%) were classified in the first three groups and 24 hips (63.2%) in the last three groups. This analysis suggests that these surgical procedures could be applied in treating DDH in CP. ..
  31. Yaniv M, Becker T, Goldwirt M, Khamis S, Steinberg D, Weintroub S. Prevalence of bowlegs among child and adolescent soccer players. Clin J Sport Med. 2006;16:392-6 pubmed
    ..The prevalence was more pronounced among players aged 13 years or older. Further research is needed to explore the rationale of this phenomenon. ..
  32. Kumagi M, Ikeda S, Uchida K, Ono T, Tsumara H. Total knee replacement for osteoarthritis of the knee with congenital dislocation of the patella. J Bone Joint Surg Br. 2007;89:1522-4 pubmed
    ..One knee had deep infection. There was one dislocated patella which was repositioned, and walking ability was improved in all knees. We believe that the rotational alignment of a prosthesis is as important as the soft-tissue surgery. ..
  33. Okuda T, Fujita T, Kaneuji A, Miaki K, Yasuda Y, Matsumoto T. Stage-specific sagittal spinopelvic alignment changes in osteoarthritis of the hip secondary to developmental hip dysplasia. Spine (Phila Pa 1976). 2007;32:E816-9 pubmed
    ..With aging, patients with OA maintained the lumbar lordotic angle and did not develop a posterior sacral slope angle. ..
  34. Contreras M, Ries W, Shanmugarajan S, Arboleda G, Singh I, Singh A. Factors that affect postnatal bone growth retardation in the twitcher murine model of Krabbe disease. Biochim Biophys Acta. 2010;1802:601-8 pubmed publisher
  35. Park S, Gordon J, Luhmann S, Dobbs M, Schoenecker P. Outcome of hemiepiphyseal stapling for late-onset tibia vara. J Bone Joint Surg Am. 2005;87:2259-66 pubmed
    ..Hemiepiphyseal stapling is particularly effective in patients who are ten years of age or younger. Therapeutic Level IV. ..
  36. Oh C, Thacker M, MacKenzie W, Riddle E. Coxa vara: a novel measurement technique in skeletal dysplasias. Clin Orthop Relat Res. 2006;447:125-31 pubmed
    ..We present a novel measurement technique to determine the degree of coxa vara deformity in children with delayed or absent ossification of the capital femoral epiphysis. ..
  37. Beales P, Bland E, Tobin J, Bacchelli C, Tuysuz B, Hill J, et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007;39:727-9 pubmed
    ..Knockdown of ift80 in zebrafish resulted in cystic kidneys, and knockdown in Tetrahymena thermophila produced shortened or absent cilia...
  38. Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, et al. Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Am J Med Genet A. 2007;143A:3280-5 pubmed
    ..We report on a case with Raine syndrome born to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings. ..
  39. Baldridge D, Shchelochkov O, Kelley B, Lee B. Signaling pathways in human skeletal dysplasias. Annu Rev Genomics Hum Genet. 2010;11:189-217 pubmed publisher
  40. Deger S, Tabar G, Sermet B, Tanyeri H, Kurklu E. Dental findings and rehabilitation in familial osteodysplasia (Anderson type): a case report. Oral Dis. 2006;12:208-12 pubmed
    ..Awareness of the syndromal features, especially of spontaneous fractures, would detect the limitations for dental interventions and treatment planning. ..
  41. Basiratnia M, Fallahzadeh M. Schimke immuno-osseous dysplasia. Saudi Med J. 2007;28:457-60 pubmed
    ..It is emphasized that this disorder should be considered in children with steroid resistant nephrotic syndrome and bone dysplasia. ..
  42. Yamanaka M, Ishijima M, Tokita A, Sakamoto Y, Kaneko H, Maezawa K, et al. Association of oestrogen receptor gene polymorphism with the long-term results of rotational acetabular osteotomy. Int Orthop. 2009;33:1155-64 pubmed publisher
    ..The PvuII polymorphism in the ER gene was associated with the postoperative result of an RAO, while no association was observed between the AD with VDR and ER gene polymorphisms. ..
  43. Gartland A, Mason Savas A, Yang M, MacKay C, Birnbaum M, Odgren P. Septoclast deficiency accompanies postnatal growth plate chondrodysplasia in the toothless (tl) osteopetrotic, colony-stimulating factor-1 (CSF-1)-deficient rat and is partially responsive to CSF-1 injections. Am J Pathol. 2009;175:2668-75 pubmed publisher
  44. Cassart M. Suspected fetal skeletal malformations or bone diseases: how to explore. Pediatr Radiol. 2010;40:1046-51 pubmed publisher
    ..We will therefore describe the respective role of two-dimensional (2-D) US, three-dimensional (3-D) US and CT in the antenatal assessment of skeletal malformations. ..
  45. Brueton R. The aetiology of angular deformities of the lower limb in children in Malawi: a review of 35 patients. Trop Doct. 2006;36:122-5 pubmed
    ..Among the valgus patients, eight had extremes of physiological knock knee and five had valgus bowing of the femora or tibiae. ..
  46. Wise L, Winkelmann C. Evaluation of hydroxyurea-induced fetal skeletal changes in Dutch belted rabbits by micro-computed tomography and alizarin red staining. Birth Defects Res B Dev Reprod Toxicol. 2009;86:220-6 pubmed publisher
  47. Shintani S, Ooshima T. [Genetic basis for skeletal disease. Dental management of patients with bone diseases]. Clin Calcium. 2010;20:1259-65 pubmed publisher
    ..In this article, dental management of the patients with bone diseases such as X-linked hypophosphatemic rickets, osteogenesis imperfecta, and hypophosphatasia was presented. ..
  48. Stevenson D, Viskochil D, Schorry E, Crawford A, D Astous J, Murray K, et al. The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Genet Med. 2007;9:409-12 pubmed
    ..Clarification of this diagnostic criterion is important for the clinician and for research protocols. Appropriate interpretation will improve understanding of the natural history and pathophysiology of neurofibromatosis type 1...
  49. Nguyen J, Gatewood J, Beall D, Herndon W, Puffinberger W, Ly J, et al. Longitudinal epiphyseal bracket. J Okla State Med Assoc. 2007;100:380-2 pubmed
    ..We describe a two-month-old patient in whom plain film and MR imaging demonstrated bilateral bracketed first metatarsals with associated hallux varus deformities. Bilateral bracket excision was performed with excellent clinical results...
  50. Zhou Y, Yu Z, Ren W, Mu X. [Establishment of diagnostic criteria for cranio-orbito-zygomatic hypoplasia with computer-assisted measurement]. Zhonghua Zheng Xing Wai Ke Za Zhi. 2008;24:93-7 pubmed
    ..To establish the quantitative diagnostic criteria for cranio-orbito-zygomatic deformity (COZD)...
  51. Lavelle W, Shovlin J, Drvaric D. Reliability of the metaphyseal-diaphyseal angle in tibia vara as measured on digital images by pediatric orthopaedic surgeons. J Pediatr Orthop. 2008;28:695-8 pubmed publisher
    ..The use of digital images poses another variable in the reliability of the MDA as digital images are used more commonly...
  52. Elliott A, Kibria L, Reed M. The developmental spectrum of proximal radioulnar synostosis. Skeletal Radiol. 2010;39:49-54 pubmed publisher
    ..We investigated the hypothesis that posterior congenital dislocation of the radial head and proximal radioulnar fusion are different clinical manifestations of the same primary developmental abnormality...
  53. Arendse R, Brink P, Beighton P. Hereditary bone dysplasia with pathological fractures and nodal osteoarthropathy. Skeletal Radiol. 2009;38:1197-203 pubmed publisher
    ..It was not possible for molecular studies to be undertaken. Pedigree data were consistent with autosomal dominant transmission, and this disorder appeared to be a previously undocumented heritable skeletal dysplasia...
  54. El Mowafi H, El Sherbiny M, Abou ElGhar M, Hafez A. Acetabular coverage in bladder exstrophy: role of 3-dimensional computed tomography. Acta Orthop Belg. 2005;71:410-3 pubmed
    ..The CEA angle ranged from 15 to 25 degrees. Acetabular coverage in bladder exstrophy patients is deficient during the first 5 years of life. Although it gradually improves over time, it does not reach to normal value...
  55. Phadke S, Ramirez M, Difeo A, Martignetti J, Girisha K. Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. Clin Dysmorphol. 2007;16:95-100 pubmed
    ..We conclude that pamidronate does not improve peripheral osteolysis in multicentric osteolysis and nodular arthropathy caused by mutation in matrix metalloproteinase 2 gene...
  56. de Macena Sobreira N, Alves M, Alvarez Perez A, Brunoni D, Cernach M. Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. Clin Dysmorphol. 2008;17:145-8 pubmed publisher
    ..The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis...
  57. Malghem J, Maldague B, Lecouvet F, Koutaissoff S, Vande Berg B. [Plain radiography of the knee: the articular surfaces]. J Radiol. 2008;89:692-7; quiz708-10 pubmed
    ..Occasionally, very subtle bone abnormalities can be recognized in cases of cartilaginous, subchondral or even meniscal lesions. However, these focal abnormalities are not constant, and their visualization is somewhat anecdotal...
  58. Singh S, Goyal R, Rastogi A, Gupta K, Kumar S, Agrawal N. Pseudopuberty and juvenile hypothyroidism. J Pediatr Endocrinol Metab. 2008;21:521 pubmed
  59. Chen E, Paladin A, Phillips G, Raske M, Vega L, Peterson D, et al. Semicircular canal dehiscence in the pediatric population. Int J Pediatr Otorhinolaryngol. 2009;73:321-7 pubmed publisher
  60. Fitzpatrick N, Smith T, O Riordan J, Yeadon R. Treatment of incomplete ossification of the humeral condyle with autogenous bone grafting techniques. Vet Surg. 2009;38:173-84 pubmed publisher
    ..To report clinical experience with autogenous bone grafting, with and without metallic implants, for treatment of lameness attributed to incomplete ossification of the humeral condyle (IOHC)...
  61. Sibinski M, Woźniakowski B, Drobniewski M, Synder M. Secondary gleno-humeral joint dysplasia in children with persistent obstetric brachial plexus palsy. Int Orthop. 2010;34:863-7 pubmed publisher
    ..Shoulder function and in particular, passive, external rotation are closely associated with the degree of deformity of the glenoid, as well as with the extent of posterior humeral head dislocation...
  62. Crawford A, Schorry E. Neurofibromatosis update. J Pediatr Orthop. 2006;26:413-23 pubmed
    ..4%; and plexiform neurofibromas, 25%. The orthopedic complications can be managed, but only rarely are they cured. Current developments in molecular genetics are exciting and give hope to more positive outcomes...
  63. Halanski M, Iskandar B, Nemeth B, Noonan K. The coconut condyle: occipital condylar dysplasia causing torticollis and leading to c1 fracture. J Spinal Disord Tech. 2006;19:295-8 pubmed
    ..We believe this congenital anomaly to be the cause of his original head tilt and also predisposed him to C1 fracture and worsening head tilt...
  64. Hampton B, Harris W. Primary cementless acetabular components in hips with severe developmental dysplasia or total dislocation. A concise follow-up, at an average of sixteen years, of a previous report. J Bone Joint Surg Am. 2006;88:1549-52 pubmed
    ..We believe that this cup had excellent fixation at a long duration of follow-up of sixteen years in this highly selected set of patients with difficult hip problems...
  65. Feldman D, Madan S, Ruchelsman D, Sala D, Lehman W. Accuracy of correction of tibia vara: acute versus gradual correction. J Pediatr Orthop. 2006;26:794-8 pubmed
    ..Gradual deformity correction is a more accurate treatment method of tibia vara than acute correction...
  66. Konstantinidou A, Karadimas C, Waterham H, Superti Furga A, Kaminopetros P, Grigoriadou M, et al. Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. Prenat Diagn. 2008;28:309-12 pubmed publisher
    ..The defect is associated with a defect in cholesterol biosynthesis and due to mutations in the gene encoding the lamin B receptor (LBR)...
  67. Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul Neumann L. Czech dysplasia: report of a large family and further delineation of the phenotype. Am J Med Genet A. 2008;146A:1859-64 pubmed publisher
    ..The family provides further evidence for the remarkably uniform manifestation of the clinical and radiological abnormalities and adds hearing loss to the list of major anomalies of Czech dysplasia...
  68. Hotchkiss B, Engels J, Forness M. Hip disorders in the adolescent. Adolesc Med State Art Rev. 2007;18:165-81, x-xi pubmed
    ..The intended audience is primary care physicians and orthopedic surgeons who may have limited exposure to some of these conditions...
  69. Cheshier S, Kalani M, Pendakaur A, Higgins D, Kahn D, Shendel S, et al. Two-year-old girl with cervicomedullary junction stenosis and an unknown type of skeletal dysplasia. J Neurosurg Pediatr. 2008;2:200-2 pubmed publisher
    ..She also had prominent bone overgrowth of the superior orbital ridges, resulting in excessive stretching of periorbital skin and an inability to fully close her eyes...
  70. Pereira P, Schneider A, Pannetier S, Heron D, Hanauer A. Coffin-Lowry syndrome. Eur J Hum Genet. 2010;18:627-33 pubmed publisher
    ..2, which encodes RSK2, a growth-factor-regulated protein kinase. RPS6KA3 mutations are extremely heterogeneous and lead to loss of phosphotransferase activity in the RSK2 kinase, most often because of premature termination of translation...
  71. Carney B. Acetabular dysplasia following closed reduction of developmental dislocation of the hip. J Surg Orthop Adv. 2005;14:122-4 pubmed
    ..Following closed reduction, the incidence of acetabular dysplasia was 69% (24 hips). No statistically significant relationship between acetabular dysplasia and age at reduction or presence of the ossific nucleus was demonstrated...
  72. Gleizal A, Revol P, Bouletreau P, Sailhan F, Freidel M, Breton P. [Growth defects of fibular flaps in children]. Rev Stomatol Chir Maxillofac. 2005;106:352-5 pubmed
    ..Mandibular reconstruction with fibula free flap is a challenge in pediatric patients because of the size of the bone and absence of growth without epiphyseal transplantation...
  73. Teszas A, Karteszi J, Kosztolanyi G. [Novel approaches to the background of developmental abnormalities: clinical genetics of transcription factors]. Orv Hetil. 2006;147:697-702 pubmed
    ..In addition, studies of the transcription factors may lead to a better understanding of human embryogenesis...
  74. Sibinski M, Synder M, Pruszczyński B. [Hip joint development after closed reduction, complicated by growth disturbance of the capital femoral epiphysis]. Chir Narzadow Ruchu Ortop Pol. 2006;71:33-6 pubmed
    ..Statistically hips with AVN had worse final results and in cases with good congruity prognosis is often uncertain due to aspherical femoral head and secondary osteoarthrosis. Acetabular development is most often unaffected by AVN...
  75. Ehara H, Utsunomiya Y, Ieshima A, Maegaki Y, Nishimura G, Takeshita K, et al. Martsolf syndrome in Japanese siblings. Am J Med Genet A. 2007;143A:973-8 pubmed
    ..No responses to serum LH and FSH after a gonadotropin-releasing hormone (GnRH) test suggested secondary hypogonadism, that is, hypogonadotropic hypogonadism, due to hypothalamus-pituitary axis insufficiency in both patients...
  76. Wilson N, Scherl S, Cramer K. Complications of high tibial osteotomy with external fixation in adolescent Blount's disease. Orthopedics. 2007;30:848-52 pubmed
    ..Recognition of comorbidities will allow more effective risk stratification and preoperative counseling stressing the importance of compliance, wound, and pin care...
  77. Taleb C, Gouzou S, Mantovani G, Liverneaux P. Treatment of benign bone tumours of the hand using osteoscopy. Chir Main. 2010;29:78-81 pubmed publisher
    ..All things considered, the oblique osteoscopic uniportal approach seems to be the best option for the management of benign bone tumours of the hand...
  78. Loukin S, Zhou X, Su Z, Saimi Y, Kung C. Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force. J Biol Chem. 2010;285:27176-81 pubmed publisher
    ..Single-channel analysis revealed that R616Q channels maintain mechanosensitivity but have greater constitutive activity and no change in unitary conductance or rectification...
  79. Taha D. Re: EIF2AK3 mutations in patients with Wolcott-Rallison syndrome. Ann Saudi Med. 2005;25:350; author reply 350 pubmed
  80. Elefteriou F, Benson M, Sowa H, Starbuck M, Liu X, Ron D, et al. ATF4 mediation of NF1 functions in osteoblast reveals a nutritional basis for congenital skeletal dysplasiae. Cell Metab. 2006;4:441-51 pubmed
    ..By showing that ATF4-dependent skeletal dysplasiae are treatable by dietary manipulations, this study reveals a molecular connection between nutrition and skeletal development...
  81. Lipton G, Guille J, Altiok H, Bowen J, Harcke H. A reappraisal of the Ortolani examination in children with developmental dysplasia of the hip. J Pediatr Orthop. 2007;27:27-31 pubmed
    ..All Ortolani-positive hips were abnormal, as the sensation characteristic of a positive Ortolani examination may be felt without full reduction and, in some cases, with no reduction, as documented by ultrasound...
  82. Vasu C, Rajendran V, Regi George A, Anoop P, Anjay M. Progressive facial disfigurement and deafness in craniometaphyseal dysplasia. Indian J Pediatr. 2006;73:1105 pubmed
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    ..Early conservative orthopaedic management usually resolves the problem, but delay of proper recognition and treatment can cause poorer prognosis and severe consequences...
  84. Naeem M, Sheikh S, Ahmad W. A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin. BMC Med Genet. 2009;10:76 pubmed publisher
    ..Mutations in the gene encoding cathepsin K (CTSK), a lysosomal cysteine protease, have been found to be responsible for this disease...
  85. Engler J, Hamann H, Distl O. [Estimation of population genetic parameters for radiographical findings of elbow dsyplasia in the Labrador Retriever]. Berl Munch Tierarztl Wochenschr. 2009;122:378-85 pubmed
  86. Lima R, Costa E, Rocha C, Vieira E, Dos Santos R, Barbot J, et al. Molecular characterization of a Portuguese patient with Shwachman-Diamond syndrome. J Pediatr Gastroenterol Nutr. 2005;41:115-6 pubmed
  87. Kim Y, Roh D, Choi B, Oh S. Craniometaphyseal dysplasia. Acta Otolaryngol. 2005;125:797-800 pubmed
    ..We present a sporadic case of craniometaphyseal dysplasia associated with facial paralysis observed in a 4-year-old female, which emphasizes the importance of the early detection of accompanying lesions...
  88. Heger S, Kuester R, Volk R, Stephani U, Sippell W. Satoyoshi syndrome: a rare multisystemic disorder requiring systemic and symptomatic treatment. Brain Dev. 2006;28:300-4 pubmed
    ..Initiation of sex-steroid treatment resulted in pubertal development, regular menstrual cycles and improved quality of life...
  89. Hamamy H, Teebi A, Oudjhane K, Shegem N, Ajlouni K. Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?. Am J Med Genet A. 2007;143A:229-34 pubmed
    ..The father has mild hypertelorism but the family history is otherwise unremarkable. We think that this represents a previously unrecognized autosomal or X-linked recessive syndrome...
  90. Kranz C, Basinger A, Gucsavas Calikoglu M, Sun L, Powell C, Henderson F, et al. Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A. 2007;143A:1371-8 pubmed
    ..Congenital disorders of glycosylation should be considered for children with undiagnosed multi-system disease including neurodevelopmental delay, skeletal dysplasia, immune deficiency, male genital hypoplasia, and cardiomyopathy...
  91. Mancuso A, Giacobbe A, de Vivo A, Fanara G, Cocivera G. Prenatal identification of isolated bilateral radial dysplasia. J Clin Ultrasound. 2009;37:175-8 pubmed publisher
    ..The intrauterine 2- and 3-dimensional findings, postnatal radiographic evaluation, and autopsy results are reported...
  92. Terrence Jose Jerome J. Congenital fusion of the trapezium and trapezoid. Rom J Morphol Embryol. 2008;49:417-9 pubmed
    ..We report an unusual case of carpal coalition between trapezium and trapezoid in a 54-year-old man who was diagnosed after a pain in left wrist following a night's sleep. The patient was otherwise asymptomatic...