musculoskeletal abnormalities

Summary

Summary: Congenital structural abnormalities and deformities of the musculoskeletal system.

Top Publications

  1. Ozkilic A, Seven M, Yuksel A. A case of acampomelic campomelic dysplasia. Genet Couns. 2002;13:23-8 pubmed
    ..Angulation of the femur, tibia and humerus was not observed. Our case, suited to acampomelic campomelic dysplasia, is discussed with differential diagnosis and compared with previously reported cases of the syndrome. ..
  2. Adams S, Flynn J, Hosalkar H, Hunter J, Finkel R, Halsikar H. Torticollis in an infant caused by hereditary muscle aplasia. Am J Orthop (Belle Mead NJ). 2003;32:556-8 pubmed
    ..Electromyography and cross-sectional imaging were valuable in making the diagnosis. We believe this is the first reported case of hereditary unilateral muscle aplasia presenting as torticollis in an infant...
  3. Young J, Young P, Ackermann M, Anderson P, Riew K. The ponticulus posticus: implications for screw insertion into the first cervical lateral mass. J Bone Joint Surg Am. 2005;87:2495-8 pubmed
    ..The arcuate foramen is an important osseous anomaly of the first cervical vertebra (the atlas) that must be taken into consideration during placement of lateral mass screws into the atlas...
  4. Sponseller P, Jones K, Ahn N, Erkula G, Foran J, Dietz H. Protrusio acetabuli in Marfan syndrome: age-related prevalence and associated hip function. J Bone Joint Surg Am. 2006;88:486-95 pubmed
    ..Nevertheless, some clinicians have recommended prophylactic hip surgery for preadolescents with Marfan syndrome and protrusio acetabuli...
  5. Yeshayahu Y. The use of olanzapine in pregnancy and congenital cardiac and musculoskeletal abnormalities. Am J Psychiatry. 2007;164:1759-60 pubmed
  6. Hawli Y, Nasrallah M, El Hajj Fuleihan G. Endocrine and musculoskeletal abnormalities in patients with Down syndrome. Nat Rev Endocrinol. 2009;5:327-34 pubmed publisher
  7. Bergmann C, Spranger S, Javaher P, Ptok M. Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. Oral Maxillofac Surg. 2011;15:103-6 pubmed publisher
    ..Findings are discussed based on a literature review of the known patients with the genitopatellar syndrome. ..
  8. Kaya S, Yilmaz N, Pusat S, Kural C, Kirik A, Izci Y. Double foramen transversarium variation in ancient Byzantine cervical vertebrae: preliminary report of an anthropological study. Turk Neurosurg. 2011;21:534-8 pubmed
    ..2 mm in the right side and 6.4 mm in the left. Double FT exists since the antiquity. The recognition of this variation provides safety and effectiveness for the posterior approaches of the cervical spine. ..
  9. Politano V, Diener R, Christian M, Hoberman A, Palmer A, Ritacco G, et al. Oral and dermal developmental toxicity studies of phenylethyl alcohol in rats. Int J Toxicol. 2013;32:32-8 pubmed publisher
    ..02 mg/kg/d, resulting in a margin of safety >2600, when marked differences in dermal absorption between rats and humans are considered. Under normal fragrance use conditions, PEA is not a developmental toxicity hazard for humans. ..

More Information

Publications110 found, 100 shown here

  1. Yassir W, Grottkau B, Goldberg M. Costello syndrome: orthopaedic manifestations and functional health. J Pediatr Orthop. 2003;23:94-8 pubmed
    ..Orthopaedic problems are a significant part of Costello syndrome, and affected individuals should be evaluated and followed-up regularly by an orthopaedic surgeon. ..
  2. Kara B, Kayserili H, Imer M, Caliskan M, Ozmen M. Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome. Pediatr Neurol. 2006;34:478-80 pubmed
    ..Neurologic anomalies are frequently observed. This report presents a 2-year-old male with Kabuki syndrome who had a quadrigeminal cistern arachnoid cyst: the second case of such an association to be reported in the literature. ..
  3. Sharma M, Gulati S, Sarkar C, Jain D, Kalra V, Suri V. Multi-minicore disease: a rare form of myopathy. Neurol India. 2007;55:50-3 pubmed
    ..Multi-minicore disease, although a rare form of myopathies, should be suspected in children who present with generalized hypotonia and slowly progressive muscle weakness along with dysmorphic facies. ..
  4. Torre M, Rapuzzi G, Carlucci M, Pio L, Jasonni V. Phenotypic spectrum and management of sternal cleft: literature review and presentation of a new series. Eur J Cardiothorac Surg. 2012;41:4-9 pubmed publisher
    ..Although primary closure is the preferred option and should be performed in the neonatal period, the use of prostheses warrants good results as well. Prior to treatment, associated defects and syndromes should be excluded. ..
  5. Detweiler S, Thacker M, Hopkins E, Conway L, Gripp K. Orthopedic manifestations and implications for individuals with Costello syndrome. Am J Med Genet A. 2013;161A:1940-9 pubmed publisher
    ..Based on these findings, we recommend routine referral to an orthopedic surgeon as well as instituting screening protocols for hips and spine for individuals with Costello syndrome. ..
  6. Masada K, Yasuda M, Takeuchi E, Mizusawa K. Duplicate extensor tendons of the thumb mimicking rupture of the extensor pollicis longus tendon. Scand J Plast Reconstr Surg Hand Surg. 2003;37:318-9 pubmed
    ..Selective windowing with highlighting of the soft tissue in the axial T1-weighted magnetic resonance image at the level of the distal radioulnar joint showed two tendons in the third extensor compartment. ..
  7. Bosley T, Alorainy I, Salih M, Aldhalaan H, Abu Amero K, Oystreck D, et al. The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A. 2008;146A:1235-40 pubmed publisher
    ..These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum. ..
  8. Krakow D, Lachman R, Rimoin D. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009;11:127-33 pubmed publisher
    ..These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia. ..
  9. Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, et al. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet. 2010;86:789-96 pubmed publisher
    ..This study further expands the spectrum of the recently recognized autosomal-recessive ALX-related FND phenotype in humans. ..
  10. Paraskevas G, Ioannidis O. Accessory muscles around the superior radioulnar joint: a morphological study. Ital J Anat Embryol. 2011;116:45-51 pubmed
    ..The knowledge of such anatomical variants facilitate the surgeon operating in the elbow region to better interpret supernumerary muscular bundles in the operative field. ..
  11. Daniel P, Morgan T, Alanay Y, Bijlsma E, Cho T, Cole T, et al. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Hum Mutat. 2012;33:665-73 pubmed publisher
  12. Caksen H, Kurtoglu S, Ozturk A. A fatal Turkish case of campomelic dysplasia. Ann Acad Med Singapore. 2004;33:128 pubmed
  13. Dimanovski J, Anticevic D, Stimac G, Kraus O, Tripkovic B. Radical prostatectomy in a patient with osteogenesis imperfecta: a possible surgical trap. Scand J Urol Nephrol. 2005;39:334-6 pubmed
    ..The clinical, diagnostic and operative peculiarities of the case are presented and the relevant literature reviewed. ..
  14. Stylianos K, Constantinos P, Alexandros T, Aliki F, Nikolaos A, Demetriou M, et al. Muscle abnormalities of the chest in Poland's syndrome: variations and proposal for a classification. Surg Radiol Anat. 2012;34:57-63 pubmed publisher
    ..The purposes of the paper are to study the chest musculoskeletal malformations of the syndrome and propose a classification for the thoracic anomalies through our experience and taking into account the literature...
  15. Weymouth K, Blanton S, Bamshad M, Beck A, Alvarez C, Richards S, et al. Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot. Am J Med Genet A. 2011;155A:2170-9 pubmed publisher
    ..Collectively, our results suggest that variation in genes that encode contractile proteins of skeletal myofibers may play a role in the etiology of clubfoot...
  16. Kelly B, Green D. Discoid lateral meniscus in children. Curr Opin Pediatr. 2002;14:54-61 pubmed
    ..Treatment of a symptomatic Wrisberg ligament type requires surgical repair of the posterior disruption. Saucerization of the remaining meniscus may be required to protect the repair from abnormal shear forces. ..
  17. Bielski R, Gesell M, Teng A, Cooper D, Muraskas J. Orthopaedic implications of multiple gestation pregnancy with triplets. J Pediatr Orthop. 2006;26:129-31 pubmed
    ..A 0% incidence of DDH was found in these patients. Routine ultrasound screening cannot be recommended in these patients based on these results. ..
  18. Ekanem T, Okon D, Akpantah A, Mesembe O, Eluwa M, Ekong M. Prevalence of congenital malformations in Cross River and Akwa Ibom states of Nigeria from 1980-2003. Congenit Anom (Kyoto). 2008;48:167-70 pubmed publisher
    ..However, these results do not provide a complete incidence of congenital malformations in the two states studies because most anomalies are not recorded in rural health and traditional birth centers. ..
  19. Lohmann K, Redin C, Tonnies H, Bressman S, Subero J, Wiegers K, et al. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol. 2017;74:806-812 pubmed publisher
    ..The clinical management and diagnostics of such patients requires an interdisciplinary approach in modern clinical-diagnostic care. ..
  20. Lapunzina P, Soler Vigil V. Positive maternal screening results in Rubinstein-Taybi syndrome. Genet Couns. 2002;13:61-2 pubmed
  21. Myers G, Bache C, Bradish C. Use of distraction osteogenesis techniques in skeletal dysplasias. J Pediatr Orthop. 2003;23:41-5 pubmed
    ..Circular frames were associated with improved results. Spondylometaphyseal dysplasia and Jeune syndrome were the only dysplasias treated that were associated with significant complications. ..
  22. Pajkrt E, Weisz B, Firth H, Chitty L. Fetal cardiac anomalies and genetic syndromes. Prenat Diagn. 2004;24:1104-15 pubmed
    ..In this article, we describe some of the genetic syndromes commonly associated with cardiac anomalies where there are other sonographic features that may aid accurate prenatal diagnosis. ..
  23. Gong M, JIANG X, Wang M. [Treatment of cubitus varus deformity in adults with lateral closing wedge osteotomy]. Zhonghua Yi Xue Za Zhi. 2006;86:2201-4 pubmed
  24. Krille S, Müller A, Steinmann C, Reingruber B, Weber P, Martin A. Self- and social perception of physical appearance in chest wall deformity. Body Image. 2012;9:246-52 pubmed publisher
    ..Effective interventions focusing on social interactions are needed. ..
  25. d Hemecourt P, Hresko M. Spinal deformity in young athletes. Clin Sports Med. 2012;31:441-51 pubmed publisher
    ..However, good physical therapy for flexibility and strengthening of the spine should be continued. Even sports that potentially aggravate the deformity may be continued in these circumstances. ..
  26. Dobbs M, Boehm S, Grange D, Gurnett C. Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. Clin Orthop Relat Res. 2008;466:1503-9 pubmed publisher
    ..Longer followup is needed to ensure maintenance of correction and to avoid the need for more extensive surgery, which has been the traditional treatment for congenital knee dislocation associated with Larsen syndrome...
  27. Doyle P, Maconochie N, Davies G, Maconochie I, Pelerin M, Prior S, et al. Miscarriage, stillbirth and congenital malformation in the offspring of UK veterans of the first Gulf war. Int J Epidemiol. 2004;33:74-86 pubmed
    ..The finding of a possible relationship with renal anomalies requires further investigation. There was no evidence of an association between risk of miscarriage and mothers' service in the gulf. ..
  28. Izumi K, Yahagi N, Fujii Y, Higuchi M, Kosaki R, Naito Y, et al. Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF. Am J Med Genet A. 2006;140:398-401 pubmed
  29. Saccheri P, Sabbadini G, Toso F, Travan L. A keyhole-shaped sternal defect in an ancient human skeleton. Surg Radiol Anat. 2012;34:965-8 pubmed publisher
  30. Matzuk M, Lu N, Vogel H, Sellheyer K, Roop D, Bradley A. Multiple defects and perinatal death in mice deficient in follistatin. Nature. 1995;374:360-3 pubmed
    ..These defects are more widespread than those seen in activin-deficient mutant mice, indicating that follistatin may modulate the actions of several members of the transforming growth factor-beta family. ..
  31. Day P, Cole B, Welbury R. Coffin-Lowry syndrome and premature tooth loss: a case report. ASDC J Dent Child. 2000;67:148-50 pubmed
    ..Several oral manifestations have been described previously. We report a case with additional information on the histology of prematurely exfoliated teeth. ..
  32. Patel K. Follistatin. Int J Biochem Cell Biol. 1998;30:1087-93 pubmed
    ..Therefore it may be possible to use follistatin as a therapeutic agent in these disorders. ..
  33. Urnaa V, Kizuki M, Nakamura K, Kaneko A, Inose T, Seino K, et al. Association of swaddling, rickets onset and bone properties in children in Ulaanbaatar, Mongolia. Public Health. 2006;120:834-40 pubmed
    ..Prevention of persistent skeletal deformities among the children who have suffered from rickets is critical to promote healthy bone development in Mongolia. ..
  34. El Busaid H, Kaisha W, Hassanali J, Hassan S, Ogeng o J, Mandela P. Sternal foramina and variant xiphoid morphology in a Kenyan population. Folia Morphol (Warsz). 2012;71:19-22 pubmed
    ..These variations may complicate sternal puncture, and due caution is recommended. The variant xiphisternal morphology may raise alarm for xiphoid fractures and may therefore be considered a differential...
  35. O Grady G, Ma A, Sival D, Wong M, Peduto T, Menezes M, et al. Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. Eur J Hum Genet. 2016;24:1216-9 pubmed publisher
    ..We identified a de novo missense variant in CHD7 in a family presenting with musculoskeletal abnormalities as the main manifestation of CHD7-related disease, representing a new phenotype...
  36. Brisset S, Joly G, Ozilou C, Lapierre J, Gosset P, Lelorc h M, et al. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature. Am J Med Genet. 2002;113:339-45 pubmed
  37. Gripp K, Lin A, Stabley D, Nicholson L, Scott C, Doyle D, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A. 2006;140:1-7 pubmed
    ..stenosis, hypertrophic cardiomyopathy, and/or atrial tachycardia), tumor predisposition, and skin and musculoskeletal abnormalities. Recently mutations in HRAS were identified in 12 Japanese and Italian patients with clinical ..
  38. Shafi M, Hui J. Hip to heel approach in the growing years. Singapore Med J. 2006;47:335-8; quiz 339 pubmed
  39. Kim H, Laor T, Racadio J. MR imaging assessment of the lateral head of the gastrocnemius muscle: prevalence of segmental anomalous origins in children and young adults. Pediatr Radiol. 2008;38:1300-5 pubmed publisher
    ..4% in our series. It is unknown whether these anomalies play a role in the etiology of patellofemoral pain or unexplained joint pain in children. ..
  40. Kabiri E, Traibi A, Boulahya A. Complete sternal cleft in an adult: case report. Gen Thorac Cardiovasc Surg. 2011;59:587-9 pubmed publisher
    ..The functional and cosmetic result was excellent after complete healing. ..
  41. Aggarwal A, Gupta D, Jindal S. Unilateral pulmonary agenesis with ipsilateral musculoskeletal anomalies. J Assoc Physicians India. 2002;50:1324-6 pubmed
    ..She additionally had absence of right thumb and reduced muscle mass over right side of face. The anomalies may have resulted from an antenatal insult around the fourth week of embryonic development. ..
  42. Coq J, Strata F, Russier M, Safadi F, Merzenich M, Byl N, et al. Impact of neonatal asphyxia and hind limb immobilization on musculoskeletal tissues and S1 map organization: implications for cerebral palsy. Exp Neurol. 2008;210:95-108 pubmed
  43. Shastri N, Winners O. Picture of the month. Congenital Dislocation of the Knee. Arch Pediatr Adolesc Med. 2008;162:787 pubmed publisher
  44. Mieog J, Morden J, Bliss J, Coombes R, Van De Velde C. Carpal tunnel syndrome and musculoskeletal symptoms in postmenopausal women with early breast cancer treated with exemestane or tamoxifen after 2-3 years of tamoxifen: a retrospective analysis of the Intergroup Exemestane Study. Lancet Oncol. 2012;13:420-32 pubmed publisher
    ..The aim of this study was to assess risk factors and the prognostic value of musculoskeletal symptoms during treatment with the steroidal aromatase inhibitor exemestane or with tamoxifen after 2-3 years of tamoxifen...
  45. Konez O. Treatment of musculoskeletal vascular anomalies. Semin Musculoskelet Radiol. 2006;10:145-58 pubmed
    ..Most patients benefit clinically from these procedures. Careful planning, appropriate training, and adequate patient care during and after the procedure are important to achieve optimal results and to minimize procedure-related risks...
  46. Robicsek F, Watts L, Fokin A. Surgical repair of pectus excavatum and carinatum. Semin Thorac Cardiovasc Surg. 2009;21:64-75 pubmed publisher
    ..Measures to correct different anatomical varieties, such as pouter pigeon breast, asymmetrical pectus excavatum, and carinatum, are discussed individually...
  47. Prados J, Archilla F, Melguizo C, Aranega A. Four accessory (supernumerary) intrathoracic ribs: a case report. Surg Radiol Anat. 2013;35:627-9 pubmed publisher
    ..Despite this, anatomical variation is usually silent and accidentally discovered; its knowledge can prevent confusion with other structures during imaging diagnostic techniques of thoracic pathologies. ..
  48. Semerci C, Onat N, Günçe S, Demirel N, Yilmazer M, Oznur I, et al. Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings. Turk J Pediatr. 2002;44:269-73 pubmed
    ..To our knowledge, these are the first reported cases of COFS syndrome from Turkey...
  49. Mennel E, John S. Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures. Pediatr Radiol. 2003;33:11-4 pubmed
    ..Lead poisoning, a known cause of metaphyseal sclerosis, was initially suspected. Careful analysis of the metaphyseal bone changes helped to distinguish this bone dysplasia from lead poisoning and other causes of metaphyseal sclerosis...
  50. Jain S, Watson M, DeBenedetti M, Hiraki Y, Moley J, Milbrandt J. Expression profiles provide insights into early malignant potential and skeletal abnormalities in multiple endocrine neoplasia type 2B syndrome tumors. Cancer Res. 2004;64:3907-13 pubmed
    ..These findings provide molecular evidence that associate the previously unexplained skeletal abnormalities and early malignancy in MEN 2B compared with MEN 2A syndrome...
  51. Lie R, Lyngstadaas A, Ørstavik K, Bakketeig L, Jacobsen G, Tanbo T. Birth defects in children conceived by ICSI compared with children conceived by other IVF-methods; a meta-analysis. Int J Epidemiol. 2005;34:696-701 pubmed
    ..Data from available cohort studies comparing ICSI with standard in vitro fertilization (IVF) should be combined to evaluate the risks involved with ICSI...
  52. Muntoni F, Voit T. 133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands. Neuromuscul Disord. 2005;15:794-801 pubmed
  53. Isidor B, Rio M, Mourier O, Habes D, Amiel J, Jacquemin E. Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature. J Pediatr Gastroenterol Nutr. 2007;45:261-4 pubmed
  54. Oztoprak I, Gumus C, Egilmez H, Manduz S, Oztoprak B, Emrecan B. Multidetector computed tomographic angiography findings in a rare case of popliteal artery entrapment syndrome. Ann Vasc Surg. 2008;22:130-3 pubmed
    ..Several underlying anatomical abnormalities causing this syndrome are described and classified. In this study, we present an unusual case of PAES along with multidetector computed tomographic angiography findings...
  55. Allori A, Chang C, Fariña R, Grayson B, Warren S, McCarthy J. Current concepts in pediatric temporomandibular joint disorders: Part 1. Etiology, epidemiology, and classification. Plast Reconstr Surg. 2010;126:1263-75 pubmed publisher
    ..Congenital temporomandibular joint disorders are uncommon. The authors review their experience with pediatric temporomandibular joint disorders and propose a new classification system...
  56. Kansal R, Kale C, Goel A. Craniopagus parasiticus: A rare case. J Clin Neurosci. 2010;17:1351-2 pubmed publisher
    ..Craniopagus parasiticus is a rare condition in which one of the twins is rudimentary in form and parasitic on the other. Few cases of craniopagus parasiticus are reported in literature; here, we present one such rare occurrence...
  57. Wang Y, Zhang X, Qi X, Sun L, Li C, Sun B, et al. [Diagnosis and treatment of bone lymphangioma associated with spinal deformity in children]. Zhonghua Yi Xue Za Zhi. 2010;90:2701-3 pubmed
    ..To investigate the diagnosis, treatment and outcomes of bone lymphangioma associated with spinal deformity in children...
  58. Moriyama K, Hanai A, Mekada K, Yoshiki A, Ogiwara K, Kimura A, et al. Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: identification as an allele of 'Hyp'. J Biomed Sci. 2011;18:60 pubmed publisher
    ..PHEX has been identified from analyses of human X-linked hypophosphatemic rickets and Hyp mutant mouse models. We here demonstrated a newly established dwarfism-like Kbus/Idr mouse line to be a novel Hyp model...
  59. Pandey A, Flück C. NADPH P450 oxidoreductase: structure, function, and pathology of diseases. Pharmacol Ther. 2013;138:229-54 pubmed publisher
    ..The review is focused on the structural, enzymatic and clinical implications of the mutations linked to newly identified disorders in humans, now categorized as POR deficiency. ..
  60. Abo El Fadl S. An unusual aberrant muscle in congenital clubfoot: an intraoperative finding. J Foot Ankle Surg. 2013;52:380-2 pubmed publisher
  61. Obeid M, Kidane N, Rechowicz K, Chemlal S, Kelly R, McKenzie F. Validation of an Objective Assessment Instrument for Non-Surgical Treatments of Chest Wall Deformities. Stud Health Technol Inform. 2016;220:273-80 pubmed
    ..Further discussed is an experiment designed to investigate the construct validity of the developed instrument. ..
  62. Saxena A, Bareither D. Magnetic resonance and cadaveric findings of the incidence of plantaris tendon. Foot Ankle Int. 2000;21:570-2 pubmed
    ..A Chi-squared test examining for differences of axial sections greater than 4 mm was not significant. (P=0.2). This is important if one is to use MRI to screen for the plantaris (for graft purposes)...
  63. Arnold S, Debich Spicer D D, Opitz J, Gilbert Barness E. Documentation of anomalies not previously described in Fryns syndrome. Am J Med Genet A. 2003;116A:179-82; discussion 183 pubmed
    ..These defects add to our knowledge of the phenotype of Fryns syndrome...
  64. Ghebranious N, Burmester J, Glurich I, McPherson E, Ivacic L, Kislow J, et al. Evaluation of SLC35A3 as a candidate gene for human vertebral malformations. Am J Med Genet A. 2006;140:1346-8 pubmed
  65. Toolan B. Current concepts review: orthobiologics. Foot Ankle Int. 2006;27:561-6 pubmed
  66. Van Vliet G. Congenital hypothyroidism: look at the whole patient! Editorial comment on the paper by El Kholy et al. in this issue. Horm Res. 2007;68:276-7 pubmed
  67. Corradi Dell acqua C, Tessari A. Is the body in the eye of the beholder? Visual processing of bodies in individuals with anomalous anatomical sensory and motor features. Neuropsychologia. 2010;48:689-702 pubmed publisher
    ..In light of these results, pure visual and pure embodied accounts behind visual processing of biological stimuli should be reconsidered...
  68. Caplat C, Oral R, Mahaut M, Mao A, Barillier D, Guida M, et al. Comparative toxicities of aluminum and zinc from sacrificial anodes or from sulfate salt in sea urchin embryos and sperm. Ecotoxicol Environ Saf. 2010;73:1138-43 pubmed publisher
    ..Together, exposures to SA-dissolved Al(III) or Zn(II) resulted in lesser, if any toxicity, up to hormesis, compared to SS. Studies of metal speciation should elucidate the present results...
  69. Varela P, Torre M. Thoracoscopic cartilage resection with partial perichondrium preservation in unilateral pectus carinatum: preliminary results. J Pediatr Surg. 2011;46:263-6 pubmed publisher
    ..The aim of this work is to present our modification to this approach...
  70. He N, Xiao Z, Yin T, Stubbs J, Li L, Quarles L. Inducible expression of Runx2 results in multiorgan abnormalities in mice. J Cell Biochem. 2011;112:653-65 pubmed publisher
    ..Use of tissue specific Cre mice will allow this model to be used to conditionally and inducibly overexpress Runx2 in different tissues and provide a means to study the post-natal tissue- and cell context-dependent functions of Runx2...
  71. Wittstein J, Lassiter T, Taylor D. Aberrant origin of the long head of the biceps: a case series. J Shoulder Elbow Surg. 2012;21:356-60 pubmed publisher
    ..Our purpose was to describe an anatomic variation of the origin of the long head of the biceps and associated clinical presentations of 2 subjects and to review existing reports of other variants...
  72. Ekbote A, Danda S. A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature. Foot Ankle Spec. 2012;5:37-40 pubmed publisher
    ..We report here one Indian patient with findings of FATCO syndrome with associated Klinefelter syndrome. This is the first such report which is likely to be a co-incidental finding and has implications for genetic counseling...
  73. Aronson L, Martin D. Anesthesia and bifid sternum repair in an infant. J Clin Anesth. 2013;25:324-6 pubmed publisher
    ..The surgical correction of the bifid sternum and its respective anesthetic concerns are presented. ..
  74. Allen A, Townsend H, Doige C, Fretz P. A case-control study of the congenital hypothyroidism and dysmaturity syndrome of foals. Can Vet J. 1996;37:349-51; 354-8 pubmed
    ..This study suggests that congenital hypothyroidism and dysmaturity syndrome in foals may be the result of diets that contain nitrate or that are low in iodine being fed to pregnant mares...
  75. Fleitz J, Rumelhart S, Goldman F, Ambruso D, Sokol R, Pacini D, et al. Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome. Bone Marrow Transplant. 2002;29:75-9 pubmed
    ..Both patients are presently alive and well with sustained donor engraftment and excellent hematopoietic function at 36 and 22 months post-HSCT...
  76. Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, et al. Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. Eur J Hum Genet. 2002;10:250-8 pubmed
    ..These results exclude TPST1 as the causative gene for SDS. The established map of the refined SDS locus will assist in the identification and characterisation of other candidate genes for SDS...
  77. Schejbalova A, Trc T. [Orthopedic treatment of a boy with Larsen's syndrome]. Acta Chir Orthop Traumatol Cech. 2003;70:116-20 pubmed
    ..The fact that the boy was able to integrate in healthy children's playgroups can be considered a great achievement of orthopedic therapy...
  78. Turner G, Lower K, White S, Delatycki M, Lampe A, Wright M, et al. The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clin Genet. 2004;65:226-32 pubmed
    ..Twenty percent have significant learning problems, and 95% have skewed X inactivation. We conclude that this syndrome may be underdiagnosed in males in their early years and missed altogether in isolated heterozygous females...
  79. Unal S, Gumruk F. Fanconi anemia patient with bilaterally hypoplastic scapula and unilateral winging associated with scoliosis and rib abnormality. J Pediatr Hematol Oncol. 2006;28:616-7 pubmed
    ..Herein, we report bilaterally hypoplastic scapula with unilateral winging associated with scoliosis and rib abnormality, a previously unreported skeletal abnormality in Fanconi anemia patients...
  80. Hosalkar H, Sankar W, Wills B, Goebel J, Dormans J, Drummond D. Congenital osseous anomalies of the upper cervical spine. J Bone Joint Surg Am. 2008;90:337-48 pubmed publisher
  81. Stancin T, Wade S, Walz N, Yeates K, Taylor H. Traumatic brain injuries in early childhood: initial impact on the family. J Dev Behav Pediatr. 2008;29:253-61 pubmed publisher
    ..The purpose of this study was to examine factors that affect parental burden and distress during the first few months following a traumatic brain injury (TBI) in young children...
  82. Mahato N. Morphometric analysis and identification of characteristic features in sacra bearing accessory articulations with L5 vertebrae. Spine J. 2010;10:616-21 pubmed publisher
    ..These transitional states are frequently associated with low back pain situations requiring surgical intervention...
  83. Cipriano G, Brech G, Peres P, Mendes C, Cipriano G, Carvalho A. Anthropometric and musculoskeletal assessment of patients with Marfan syndrome. Rev Bras Fisioter. 2011;15:291-6 pubmed
    ..MS is caused by mutations in the fibrillin-1 gene, leading to joint ligaments flaccidity, joint hypermobility and an overgrowth of the long bones...
  84. Siamwala J, Veeriah V, Priya M, Rajendran S, Saran U, Sinha S, et al. Nitric oxide rescues thalidomide mediated teratogenicity. Sci Rep. 2012;2:679 pubmed
    ..We conclude that NO secures angiogenesis in the thalidomide treated embryos to protect them from deformities...
  85. Richard Tremblay A, Sheehy O, Berard A. Annual trends in use of periconceptional folic acid and birth prevalence of major congenital malformations. Curr Drug Saf. 2013;8:153-61 pubmed
    ..The objectives of this study were to assess trends in dispensed high dose periconceptional folic acid (5 mg) and birth prevalence of major congenital malformations...
  86. Park C, Kim T, Haam S, Lee S. Does overgrowth of costal cartilage cause pectus carinatum? A three-dimensional computed tomography evaluation of rib length and costal cartilage length in patients with asymmetric pectus carinatum. Interact Cardiovasc Thorac Surg. 2013;17:757-63 pubmed publisher
    ..To evaluate whether the overgrowth of costal cartilage may cause pectus carinatum using three-dimensional (3D) computed tomography (CT)...
  87. Hyland V, Robertson S, Flanagan S, Savarirayan R, Roscioli T, Masel J, et al. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. Am J Med Genet A. 2003;120A:157-68 pubmed
    ..These findings confirm the proposita to be a somatic and germline mosaic for this particular missense mutation in FGFR3. Thus far, all reported FGFR3 R248C mutations have resulted in thanatophoric dysplasia type I (TDI)...
  88. Shen J, Brown C, Lupski J, Potocki L. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet. 2003;40:854-7 pubmed
  89. Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander Stumpel C, Mortier G, et al. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005;133A:61-7 pubmed
  90. Travers R, Allen R. Chronic infantile neurological cutaneous and articular syndrome--an early description. J Rheumatol. 2006;33:822-4 pubmed
  91. Badley E. Rheumatic diseases: the unnoticed elephant in the room. J Rheumatol. 2008;35:6-7 pubmed
  92. Raz R, Stricker S, Gazzerro E, Clor J, Witte F, Nistala H, et al. The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. Development. 2008;135:1713-23 pubmed publisher
    ..Therefore, Ror2(W749FLAG/W749FLAG) mice represent a postnatal model for RRS, provide insight into the mechanism of joint specification, and uncover novel roles of Ror2 in the mouse...