Skeletal muscle abnormalities and genetic factors related to vertical talus.

Clinical Orthopaedics and Related Research
Laura J MerrillMatthew B Dobbs

Abstract

Congenital vertical talus is a fixed dorsal dislocation of the talonavicular joint and fixed equinus contracture of the hindfoot, causing a rigid deformity recognizable at birth. The etiology and epidemiology of this condition are largely unknown, but some evidence suggests it relates to aberrations of skeletal muscle. Identifying the tissue abnormalities and genetic causes responsible for vertical talus has the potential to lead to improved treatment and preventive strategies. We therefore (1) determined whether skeletal muscle abnormalities are present in patients with vertical talus and (2) identified associated congenital anomalies and genetic abnormalities in these patients. We identified associated congenital anomalies and genetic abnormalities present in 61 patients affected with vertical talus. We obtained abductor hallucis muscle biopsy specimens from the affected limbs of 11 of the 61 patients and compared the histopathologic characteristics with those of age-matched control subjects. All muscle biopsy specimens (n = 11) had abnormalities compared with those from control subjects including combinations of abnormal variation in muscle fiber size (n = 7), type I muscle fiber smallness (n = 6), and abnormal fiber type pr...Continue Reading

References

Nov 1, 1992·Radiographics : a Review Publication of the Radiological Society of North America, Inc·M A WestcottL S Dias
Jul 1, 1983·Journal of Pediatric Orthopedics·S T Jacobsen, A H Crawford
Nov 11, 1996·American Journal of Medical Genetics·M BamshadJ C Carey
Mar 23, 2000·Journal of Neurology, Neurosurgery, and Psychiatry·T Mozaffar, A Pestronk
Feb 1, 1958·The Journal of Bone and Joint Surgery. British Volume·G C LLOYD-ROBERTS, A J SPENCE
Apr 1, 1962·The Journal of Pediatrics·P L TOWNESJ A MANNING
Apr 1, 1962·The Journal of Pediatrics·I A UCHIDAH C WANG
May 3, 2005·Clinical Orthopaedics and Related Research·Alaric J AroojisS Jay Kumar
Jul 12, 2005·Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society·Matthew B DobbsAnne M Bowcock
Feb 2, 2006·Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society·Matthew B DobbsAnne M Bowcock
Jun 8, 2006·The Journal of Bone and Joint Surgery. American Volume·Matthew B DobbsJose A Morcuende
Mar 3, 2007·The Journal of Bone and Joint Surgery. American Volume·Matthew B DobbsJose A Morcuende
Apr 10, 2007·Clinical Orthopaedics and Related Research·Christina A GurnettMatthew B Dobbs
Jul 10, 2008·Developmental Medicine and Child Neurology·Christina A GurnettMatthew B Dobbs
Sep 1, 2007·Journal of Children's Orthopaedics·Farhang AlaeeMatthew B Dobbs
Jul 11, 2009·The Journal of Bone and Joint Surgery. American Volume·Michael BamshadDavid Pleasure
Nov 28, 2009·European Journal of Medical Genetics·Paul A van der ZwaagConny M A van Ravenswaaij-Arts
Jan 5, 2010·Human Molecular Genetics·Christina A GurnettMathew B Dobbs

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Citations

Jul 16, 2013·BMC Research Notes·Amani Khader, James S Huntley
Feb 18, 2012·The Journal of Bone and Joint Surgery. American Volume·Ira ZaltzDennis Wenger
May 29, 2012·The Journal of Bone and Joint Surgery. American Volume·Ornusa ChalayonMatthew B Dobbs
Sep 5, 2015·The Journal of the American Academy of Orthopaedic Surgeons·Mark Miller, Matthew B Dobbs
Jan 6, 2016·Journal of Medical Genetics·David M AlvaradoChristina A Gurnett
Aug 21, 2015·The Journal of Bone and Joint Surgery. American Volume·Justin S Yang, Matthew B Dobbs
May 19, 2021·Skeletal Radiology·Rupert BerkeleyAsif Saifuddin

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