BACKGROUND We undertook genetic analysis of three affected families to identify the cause of dominantly-inherited CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss) syndrome. METHODS We used whole-exome sequencing to analyze two families affected with CAPOS syndrome, including the original family reported in 1996, and Sanger sequencing to assess fami...

A 54-year-old man was diagnosed as having PMA 15 years earlier. His legs had an 'inverted bottle' appearance with marked wasting of the peroneal muscles and bilateral pes cavus. The tendon jerks were absent in the lower limbs whilst those in the upper limbs were diminished. The plantar responses were equivocal. There was no sensory deficit for the appreciation of light touch, pain or temperatur...

INTRODUCTION Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main forms: CMT1 (autosomal dominant [AD] or X-linked transmission and MCV < 38 m/s); CMT2 (AD or X-linked transmission and MCV > 38 m/s); CMT4 (autosomal re...

Tarsal coalition is a bridging between the tarsal bones of the foot. The bridge may be composed of bone, cartilage, fibrous tissue, or a combination of these. When symptomatic, patients usually present with hindfoot pain and frequent sprains as children, adolescents, or young adults. The classical appearance is a rigid flatfoot with heel valgus and abduction of the forefoot. Flexible cavus feet...

Context. MEN 2B syndrome is characterized by the presence of medullary thyroid cancer, pheochromocytoma, mucosal neuromas, marfanoid features, and skeletal abnormalities like kyphoscoliosis, joint laxity, pes cavus, and slipped capital femoral epiphysis (SCFE) in a minority; we present the case of a young female who was brought to medical attention due to painful hip because of SCFE. Case Repor...

INTRODUCTION Foot disorders are common among older adults and may lead to outcomes such as falls and functional limitation. However, the associations of foot posture and foot function to specific foot disorders at the population level remain poorly understood. The purpose of this study was to assess the relation between specific foot disorders, foot posture, and foot function. METHODS Partici...

Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, auti...

We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. They presented with fine motor symptoms and difficulty in walking. During physical examination we observed neurological symptoms (general hypotonia, muscular hypotrophy,...

We carried out a cross-sectional study in 51 patients (81 feet) with a clawed hallux in association with a cavus foot after a modified Robert Jones tendon transfer. The mean follow-up was 42 months (9 to 88). In all feet, concomitant procedures had been undertaken, such as extension osteotomy of the first metatarsal and transfer of the tendon of the peroneus longus to peroneus brevis, to correc...

Pathological abnormality of the peroneal tendons is an under-appreciated source of lateral hindfoot pain and dysfunction that can be difficult to distinguish from lateral ankle ligament injuries.Enclosed within the lateral compartment of the leg, the peroneal tendons are the primary evertors of the foot and function as lateral ankle stabilisers.Pathology of the tendons falls into three broad ca...