Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

INTRODUCTION: Foot deformities are frequent complications in Charcot-Marie-Tooth disease (CMT) patients, often requiring orthopedic surgery. However, there are no prospective, randomized studies on surgical management, and there is variation in the approaches among centers both within and between countries. METHODS: In this study we assessed the frequency of foot deformities and surgery among patients recruited into the Inherited Neuropathies Consortium (INC). We also designed a survey addressed to orthopedic surgeons at INC centers to determine whether surgical approaches to orthopedic complications in CMT are variable. RESULTS: Foot deformities were reported in 71% of CMT patients; 30% of the patients had surgery. Survey questions were answered by 16 surgeons working in different specialized centers. Most of the respondents were foot and ankle surgeons. There was marked variation in surgical management. DISCUSSION: Our findings confirm that the approaches to orthopedic management of CMT are varied. We identify areas that require further research. Muscle Nerve 57: 255-259, 2018.

Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case.

Oculodentodigital dysplasia (ODDD) is a rare congenital disorder characterised by developmental abnormalities of the eye, dentition and digits of the hands and feet, with neurological symptoms reported in 30% of individuals. Dental anomalies associated with ODDD include enamel hypoplasia and subsequent caries, microdontia, missing teeth, amelogenesis imperfecta, pulp stones and delayed tooth development. Here, we describe the comprehensive dental management of a 3-year-old girl who presented with rapid deterioration of the primary dentition due to generalised enamel hypomineralisation. Conservative, comprehensive restorative management was performed under general anaesthesia. Within 6 months, further breakdown of the remaining unrestored enamel was noted. This case documents the challenges of conservative management in dental anomalies that are not well documented due to the extreme rarity of the disorder.

Trismus-pseudocamptodactyly syndrome: case report ten years after.

BACKGROUND: In 1969, Hecht and Beals described for the first time a rare dominant autosomal syndrome characterised by reduced mouth opening, pseudocamptodactyly, short stature, and foot deformities. Recent studies have confirmed that TPS is caused by a mutation of MYH8 that is common to another disease called Carney syndrome. CASE REPORT: The authors describe the long term follow-up of a case presented in 2003, ten years after the first surgical procedure: a 14-year-old girl, affected by this rare syndrome, had underwent an early (at 4 years) surgical treatment of bilateral coronoidotomies to ensure safe airway management to allow subsequent surgical treatment to correct foot deformities. After six years, a complete relapse of the trismus occurred. Three years later, the patient underwent a second surgery of bilateral coronoidotomies to definitely solve trismus. At the 18 months follow-up, the mouth opening was stable.

Principles of treatment of the upper extremity in arthrogryposis multiplex congenita type I.

The involvement of the upper limb in arthrogryposis multiplex congenita for many patients means a far-reaching dependency on outside help. The extension contracture of the elbow joint especially makes it impossible to reach the mouth or to perform hygienic necessities. Therefore, the rehabilitation program includes an improvement of passive elbow flexion by capsulotomy or of active flexion by triceps transfer if possible, or both. In bilateral involvement, the optimal solution is to have one arm in flexion for reaching the head and mouth passively or even actively and one arm in extension for hygienic necessities. From 1973 to 1993 we performed 22 releases of the elbow contracture in 16 children. An additional triceps transfer was performed in five elbows. The overall results showed a marked increase of the range of motion and a functional improvement concerning the daily activities (in 17 children). In 5 children there was no gain but also no loss of functional capacities. In 3 of 5 children with an additional triceps transfer, an improvement of active flexion was attained. Pre- and postoperative physiotherapy is at least as important as the operative procedure itself.