scholarly journals Large genomic insertion at the Shh locus results in hammer toes through enhancer adoption

2018 ◽  
Vol 115 (5) ◽  
pp. 839-841
Author(s):  
Christina Paliou ◽  
Guillaume Andrey
Keyword(s):  
BMJ ◽  
1888 ◽  
Vol 1 (1422) ◽  
pp. 718-718
Author(s):  
W. A. Lane
Keyword(s):  

1984 ◽  
Vol 75 (5) ◽  
pp. 191-198 ◽  
Author(s):  
Michael J. Coughlin
Keyword(s):  

Author(s):  
Valeria Prada ◽  
Riccardo Zuccarino ◽  
Cristina Schenone ◽  
Giulia Mennella ◽  
Marina Grandis ◽  
...  

Abstract Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy with an estimated prevalence of 1 person affected on 2500. Frequent symptoms include distal weakness and muscle wasting, sensory loss, reduced deep tendon reflexes, and skeletal deformities, such as hammer toes and pes cavus. CMT is a progressive disease and patients’ needs change over their lifetime. In particular, ambulation aids are increasingly needed to maintain ambulation and reduce the risk of falls. We performed a retrospective analysis of medical records from 149 patients with confirmed CMT to evaluate patients ambulation needs related to the severity of their CMT as measured by the CMT Neuropathy Score (CMTNS) and Ambulation Index (AI). Most patients required some form of orthotics (86.6%). The CMTNS and AI scores both differed significantly between patients with no orthotics compared to those who wore insoles/inserts. The CMTNS and AI also differed significantly between patients wearing insoles and those with ankle foot orthotics (AFOs). CMTNS and the AI were valid predictors of the type and choice of the orthotics. Both the CMTNS and AI can be effective tools to aid in the correct choice of orthotics in patients affected by CMT.


1996 ◽  
Vol 86 (1) ◽  
pp. 43-47 ◽  
Author(s):  
J Pontious ◽  
KP Flanigan ◽  
HJ Hillstrom

The plantar aponeurosis is a ligamentous structure that extends from the calcaneus to the proximal phalanges. Under tension, it functions to support the longitudinal arch, supinate the rearfoot, and stabilize the digits against the ground. The anatomy and biomechanics of the plantar fascia and plantar aponeurosis, particularly their role in digital stabilization, are reviewed. A case is presented showing a patient who developed hammer toes as a postoperative complication after having a portion of the plantar aponeurosis removed.


2010 ◽  
Vol 11 (4) ◽  
pp. 195-201 ◽  
Author(s):  
S. Piazza ◽  
G. Ricci ◽  
E. Caldarazzo Ienco ◽  
C. Carlesi ◽  
L. Volpi ◽  
...  

Abstract The hereditary peripheral neuropathies are a clinically and genetically heterogeneous group of diseases of the peripheral nervous system. Foot deformities, including the common pes cavus, but also hammer toes and twisting of the ankle, are frequently present in patients with hereditary peripheral neuropathy, and often represent one of the first signs of the disease. Pes cavus in hereditary peripheral neuropathies is caused by imbalance between the intrinsic muscles of the foot and the muscles of the leg. Accurate clinical evaluation in patients with pes cavus is necessary to exclude or confirm the presence of peripheral neuropathy. Hereditary peripheral neuropathies should be suspected in those cases with bilateral foot deformities, in the presence of family history for pes cavus and/or gait impairment, and in the presence of neurological symptoms or signs, such as distal muscle hypotrophy of limbs. Herein, we review the hereditary peripheral neuropathies in which pes cavus plays a key role as a “spy sign,” discussing the clinical and molecular features of these disorders to highlight the importance of pes cavus as a helpful clinical sign in these rare diseases.


The Lancet ◽  
1956 ◽  
Vol 267 (6921) ◽  
pp. 516
Author(s):  
Patrick James

2018 ◽  
Vol 3 (3) ◽  
pp. 2473011418S0017
Author(s):  
Nathaly Caicedo ◽  
Ruben Radkievich ◽  
Diego Zanolli de Solminihac ◽  
Rafael Calvo ◽  
Pablo Wagner ◽  
...  

Category: Midfoot/Forefoot Introduction/Purpose: The Weil osteotomy (WO) is frequently used for treating metatarsalgia and metatarsophalangeal (MTP) instability. Nevertheless, it presents complications, being the floating toe the most frequent one. A modification has been proposed to decrease the beforementioned complication, removing a slice from the osteotomy (modified Weil osteotomy, MWO). Additionally, it has been proposed that stabilizing the toe interphalangeal joints when treating hammer toes may contribute to decrease the floating toe complication, given that all flexors contribute to MTP flexion. The objective of this research is to describe complications and functional score in patients operated with MWO with and without interphalangeal stabilization. Methods: 110 patients (250 toes) treated for metatarsalgia and hammer toe deformity were retrospectively collected and prospectively followed for 66 months (SD 15). 2 groups were studied, 45 adults with isolated MWO and 65 adults with MWO with toe stabilization. Average age 55. Patients with Diabetes, previous surgeries and infections were excluded. LEFS, AOFAS and satisfaction index were recorded. A physical examination looking for floating toe, MTP instability and metatarsalgia was performed. Statistical analysis included logistic regression spearmen correlation test, Mann-Whitney test and student T test. Results: LEFS and AOFAS scores were 70 and 73 respectively, with no differences between patients operated with isolated MWO or with toe stabilization. Satisfaction index average result was “minor reservations”. Floating toe incidence was 24%, with no difference between groups. There was no difference in functional scores and satisfaction index if floating toe was present or absent. There was no correlation between functional scores and satisfaction index. Metatarsalgia was present in 31% of patients, and there is a direct correlation of floating toe occurrence and pain (4 times more chance to have pain). Conclusion: There was no clinical significant consequence of floating toe on LEFS, AOFAS or satisfaction. There was no difference in complication rate, functional scores and patient satisfaction if the interphalangeal joint was fixed or not. Although floating toe didn’t influence on functional scores, it was associated with pain. It can be suggested that the scores utilized were not able to detect the negative influence of floating toe on every patient. The high prevalence of floating toe using the MWO should make us look for additional factors which we may be overlooking when treating metatarsalgia, such as plantar plate damage.


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