Clinical characteristics of 93 cases of isolated macrodactyly of the foot in children.

BACKGROUND: The purpose of this study was to describe the clinical characteristics of macrodactyly of the foot through a large cohort of cases to further understand this rare entity. METHODS: Medical records, clinical photographs, plain radiographs, pathological findings, and intraoperative photographs of 95 feet of 93 patients were reviewed. Data including age; sex; laterality; ethnicity; birthplace; family history; and history of gestation, environment, whether smoking, or drinking during pregnancy were collected and analyzed. RESULTS: Female patients (60%), left foot (56%), and static overgrowth (63%) were more prominent in the study cohort. Southern provinces (74%) and Han Chinese ethnicity (95%) predominated in terms of geographical region and demographic distribution, respectively. Multiple-toe involvement was 2.01-times more frequent than single-toe involvement. All five toes were involved with midline toes being most frequently affected overall and a medial distribution being more common than a lateral one. The forefoot was affected in 90 feet. The affected areas (toes and forefeet) were mostly located in the innervation of the affected medial plantar nerve (91%). The nerves showed enlargement in 49 feet, fatty infiltration in 25, a tortuous course in one, and were normal in 10 feet. Only six feet involved the musculature. Enlargement of phalanges and metatarsals were observed in 92 and 57 feet, respectively, and advanced bone maturation was seen in 63 feet. Twenty-two cases had syndactyly. CONCLUSIONS: Macrodactyly of the foot is a rare congenital malformation with diverse clinical manifestations and multiple elements' involvement. It also presents the characteristics of nerve-mediated overgrowth and "nerve territory-oriented" deformity similar to that of macrodactyly of the hand.

Brachymetacarpia and Brachymetatarsia in Patients with Multiple Hereditary Exostosis.

BACKGROUND: Multiple hereditary exostosis is a common autosomal dominant inherited musculoskeletal disorder that manifests with multiple osteochondromas. The clinical manifestations and pathological characteristics of osteochondromas found in the long bone and genetic alterations related to multiple hereditary exostosis have been widely reported. In this study, we investigated the characteristics of brachymetacarpia and brachymetatarsia associated with multiple hereditary exostosis. METHODS: Of the 133 patients with a diagnosis of multiple hereditary exostosis who were recruited from 2005 to 2018, 101 patients who underwent plain radiography after 10 years of age were included. There were 55 male (54.5%) and 46 female (45.5%) patients. Brachymetacarpia or brachymetatarsia was diagnosed when disruption of the Lièvre parabola connecting the metacarpal or metatarsal heads was observed on plain radiographs. Three orthopedic surgeons individually reviewed hand and foot plain radiographs. RESULTS: Of the 101 patients, 41 patients (40.6%) had more than 1 brachymetacarpia (88 cases) or brachymetatarsia (81 cases). Among 41 cases, 22 (53.7%) were male and 19 (46.3%) were female. The mean age at the time of radiographic evaluation of the hands and feet was 14.6 years (range, 10-63 years). Shortening was most commonly found in the 3rd and 4th metacarpal or metatarsal bones. CONCLUSIONS: We found a relatively high incidence of brachymetacarpia and brachymetatarsia in our patients. Physicians should suspect the presence of brachymetacarpia and brachymetatarsia when treating patients with multiple hereditary exostosis.

Spondylocostal Dysostosis Associated with Split Spinal Cord and Other Malformations.

Spondylocostal dysostosis is a very rare combination of complex vertebra and rib malformations, accompanied occasionally by other disorders. A 3-year-old girl presented kyphoscoliosis, foot deformities, gate disturbance, and urinary incontinence. The CT and MRI examination revealed kyphosis and scoliosis with a double curve, some absent, broadened, bifurcating and fused ribs, hemivertebrae, butterfly and cleft vertebrae in thoracic and lumbar region, sporadic cleft or absent vertebral arches or pedicles, and hypoplastic sacrum with a cleft of the S2 vertebra. Spina bifida occulta extended from T10 to T11, and from L3 to the end of the sacrum. Two hemicords, separated by a bony septum and surrounded by their own dural tubes (type I), were present from the level of T9 to the conus medullaris. Filum terminale was thick and duplicated. Syringomyelia was present in the thoracic cord from T5 to T8. Finally, a small meningocele was seen at the T10-T11 level, and a subcutaneous lipoma in the thoracolumbar region. To our knowledge, such a combination of vertebra, rib, and cord malformations, including the mentioned additional disorders, has never been reported.

Longitudinal Epiphyseal Bracket of the First Metatarsal Bone: Three Case Reports and a Review of the Literature.

Longitudinal epiphyseal bracket (LEB) is a rare bone dysplasia of the tubular bones. Owing to an abnormal secondary ossification center, the affected bones can develop progressive shortening and angular deformity. The aim of our study was to provide an overview of the reported data regarding epidemiology and surgical procedures available for LEB of the first metatarsal bone in a pediatric population combined with a small case series. We report a retrospective case series of 3 nonsyndromic pediatric patients with different ages and with confirmed dysplasia of the first metatarsal bone. All patients presented with unilateral congenital hallux varus deformity and underwent surgical treatment. The radiographs and medical records were reviewed to evaluate the deformity characteristics, treatment, and clinical results. The mean patient age at initial surgery was 34 (range 12 to 63) months, and the median follow-up period was 46 (range 31 to 75) months. Almost all specific radiographic measurements showed correction of the deformity, and each foot demonstrated functional and cosmetic improvement. A standardized literature search was performed to obtain studies of LEB of the first metatarsal bone in the pediatric population. From on our results and the current data available, surgical treatment should be tailored to the patient's age and radiographic stage of LEB. However, monitoring until skeletal maturity of the feet is necessary to assess the final results.

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.

Arthroscopy of the Dorsal and Plantar Pouches of the Tarsocrural Joint for the Treatment of Osteochondritis Dissecans in the Horse: Clinical Features and Follow-Up.

OBJECTIVE: To describe the clinical details and pathology within the dorsal and plantar pouches of the tarsocrural joint of a population of horses that underwent arthroscopic surgery for tarsocrural osteochondritis dissecans (OCD). STUDY DESIGN: Retrospective cohort study. ANIMALS: Horses referred for arthroscopic treatment of tarsocrural OCD between 2005 and 2013 (102 horses; 144 joints). METHODS: Case records of all horses that had tarsocrural arthroscopy for OCD at Rossdales Equine Hospital, Newmarket, United Kingdom were included. Cases from 3 ECVS Diplomates were included, 1 of whom routinely examined 70 plantar pouches concurrently with routine dorsal pouch investigation. A structured questionnaire was used to obtain follow-up data alongside examination of racing records where appropriate. Descriptive data and 95% CI were calculated. RESULTS: Of the 70 joints that had both dorsal and plantar pouches examined, there was cartilage erosion/degeneration in 22 dorsal pouches (31.4%), cartilage wear lines in 32 plantar pouches (45.7%), and fragments were removed at the time of surgery from 7 plantar pouches (10.0%). Of the plantar pouches with wear lines, 18 (25.7%) had no evidence of cartilage abnormalities (separate from the OCD lesion) within the dorsal pouch. From the 102 horses with available follow-up, 34 horses (66.7%) achieved their intended use postsurgery. CONCLUSION: Routine plantar pouch investigation is warranted in cases of tarsocrural OCD to provide further information on the health of the joint and allows for removal of fragments from the plantar pouch that may not have been identified by routine diagnostic radiography.

Benefits from using an ankle-foot orthosis in children with myelomeningocele / Benefícios do uso da órtese tornozelo-pé nas crianças com mielomeningocele

Myelomeningocele (MMC) or spina bifida is a defect of the neural tube in which the spinal cord, its envelopes (meninges), and vertebral arches develop abnormally in the beginning of gestation, and owing to this failure of closure there appear a series of congenital defects and associated comorbidies, impairing in several aspects the functioning of the life of children with MMC. The congenital clubfoot has been found the most common orthopaedic anomaly in patients with MMC. The ankle-foot orthosis (AFO) is an orthopaedic device commonly used by these children to minimize the sequelae caused by this anomaly. OBJECTIVE: Identify the functional benefits brought about by the use of the AFO to children with MMC, as reported by their guardians. METHOD: Descriptive, transversal study. Convenience sample consisting of 25 guardians of children with MMC who were using/had used an AFO. RESULTS: Eighty percent of the guardians have reported at least one benefit brought about by the use of the AFO, among them: improvement in foot position (68%), foot growth (40%), improvement in foot balance (32%), and balance sitting position (15%). CONCLUSION: The use of the AFO by children with MMC can provide several benefits reported by their guardians.

A mielomeningocele (MMC) ou espinha bífida é um defeito do tubo neura no qual a medula espinal, seus envoltórios (meninges) e os arcos vertebrais desenvolvem-se anormalmente no início da gestação e, como consequências, temos uma série de defeitos congênitos e comorbidades associadas prejudicando a funcionalidade em diversos aspectos da vida das crianças com MMC. O pé torto congênito foi apontado como a anomalia ortopédica mais comum nos pacientes com MMC e a órtese tornozelo-pé (OTP) é um aparelho ortopédico que pode ser usado nessas crianças para amenizar as sequelas geradas por essa anomalia. OBJETIVO: Identificar os benefícios funcionais trazidos pelo uso da OTP em crianças com MMC relata-dos pelos seus responsáveis. MÉTODO: Estudo descritivo, transversal. Amostra de conveniência composta por responsáveis de 25 crianças com MMC que usavam/usaram a OTP que responderam a uma entrevista estruturada que contemplava as variáveis estudadas. RESULTADOS: Oitenta por cento dos responsáveis relataram pelo menos um benefício causado pelo uso da OTP, dentre eles: melhorou a postura do pé (68%), o pé cresceu (40%), melhorou o equilíbrio em pé (32%), melhorou o equilíbrio sentado (15%). CONCLUSÃO: O uso da OTP em crianças com MMC pode proporcionar benefícios identificados pelos responsáveis.

Operative resection is a viable treatment of macrodactyly of the foot caused by lipofibromatous hamartoma: a case study with 5 year follow-up.

UNLABELLED: Lipofibromatous hamartoma (LFH) is a benign tumour of nervous tissue that most commonly involves the median nerve. Only a few cases of LFH in the foot have been described. In these cases growth of bone and other tissue causing macrodactyly, a condition known as macrodystrophia lipomatosa, is often observed. Conservative treatment of LFH is usually preferred because of the potential loss of neurological function after surgery. Here we present a rare case of a 44-year old patient with LFH causing macrodactyly of the second ray of the left foot whose symptoms did not improve after conservative treatment. We describe the diagnostic process and the operative resection that was performed and show the follow-up results 5 years after surgery. All the symptoms experienced by our patient had disappeared. This case demonstrates that operative treatment of LFH in the foot is a viable option in patients with persistent symptoms following conservative treatment. LEVEL OF EVIDENCE: Level V.

Phenotype and genotype in Nicolaides-Baraitser syndrome.

Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling complex. We analyzed 61 molecularly confirmed cases, including all previously reported patients (n = 47) and 14 additional unpublished individuals. NCBRS is clinically and genetically homogeneous. The cardinal features (ID, short stature, microcephaly, typical face, sparse hair, brachydactyly, prominent interphalangeal joints, behavioral problems and seizures), are almost universally present. There is variability however, as ID can range from severe to mild, and sparse hair may be present only in certain age groups. There may be a correlation between the severity of the ID and presence of seizures, absent speech, short stature and microcephaly. SMARCA2 mutations causing NCBRS are likely to act through a dominant-negative effect. There may be some genotype-phenotype correlations (mutations at domain VI with severe ID and seizures; mutations affecting residues Pro883, Leu946, and Ala1201 with mild phenotypes) but numbers are still too small to draw definitive conclusions.

Subtalar fusion for pes valgus in cerebral palsy: results of a modified technique in the setting of single event multilevel surgery.

BACKGROUND: We studied the use of cortico-cancellous circular allograft combined with cannulated screw fixation for the correction of dorsolateral peritalar subluxation in a series of children with bilateral spastic cerebral palsy undergoing single event multilevel surgery. METHODS: Forty-six children who underwent bilateral subtalar fusion between January 1999 and December 2004 were retrospectively reviewed. Gait laboratory records, Gross Motor Function Classification System (GMFCS) levels, Functional Mobility Scale (FMS) scores, and radiographs were reviewed. The surgical technique used an Ollier type incision with a precut cortico-cancellous allograft press-fit into the prepared sinus tarsi. One or two 7.3 mm fully threaded cancellous screws were used to fix the subtalar joint. Radiographic analysis included preoperative and postoperative standing lateral radiographs measuring the lateral talocalcaneal angle, lateral talo-first metatarsal angle, and navicular cuboid overlap. Fusion rate was assessed with radiographs >12 months after surgery. RESULTS: The mean patient age was 12.9 years (range, 7.8 to 18.4 y) with an average follow-up of 55 months. Statistically significant improvement postoperatively was found for all 3 radiographic indices: lateral talocalcaneal angle, mean improvement 20 degrees (95% CI, 17.5-22.1; P<0.001); lateral talo-first metatarsal angle, mean improvement 21 degrees (95% CI, 19.2-23.4; P<0.001); and navicular cuboid overlap, mean improvement 29% (95% CI, 25.7%-32.6%; P<0.001). FMS improved across all patients, with Gross Motor Function Classification System III children experiencing a 70% improvement across all 3 FMS distances (5, 50, and 500 m). All 3 radiographic measures improved significantly (P<0.001). Fusion was achieved in 45 patients and there were no wound complications. CONCLUSIONS: With this study, we demonstrate significant improvement in radiographic segmental alignment and overall function outcome with this modified subtalar fusion technique. We conclude that this technique is an effective complement for children with dorsolateral peritalar subluxation undergoing single event multilevel surgery. LEVEL OF EVIDENCE: Level IV.

Phenotypic and dermatological manifestations in Down Syndrome.

Down syndrome (DS) is associated with various uncommon dermatological disorders and increased frequency of some common dermatoses. This study was conducted over a 2-year period to evaluate the frequency of phenotypic and dermatologic manifestations in patients with Down syndrome in south India. The most common phenotypic manifestations that characterize DS include the epicanthic fold (93.7%), brachicephaly (90.6%), flat nasal bridge (84.2%), upward angle of eyes (83.2%), wide gap between first and second toe (81.1%), clinodactyly (77.9%), small nose (74.7%), short broad neck (72.6%), single palmar crease (61.1%), increased nuchal skin fold (61.1%), and fissured tongue (52.6%). The most common dermatological manifestation seen in patients with DS were lichenification, xerosis, dental anomaly, fine, sparse hair, and delayed dentition. Alopecia areata was seen in 9.4 percent of patients and tended to be severe. Infections were relatively less common in our study. Our study has highlighted many phenotypic features and dermatoses, which may help provide better care for patients and counseling to the families.

Skeletal muscle abnormalities and genetic factors related to vertical talus.

BACKGROUND/RATIONALE: 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. QUESTIONS/PURPOSES: 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. METHODS: 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. RESULTS: 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 predominance (n = 5). Isolated vertical talus occurred in 23 of the 61 patients (38%), whereas the remaining 38 patients had associated nervous system, musculoskeletal system, and/or genetic and genomic abnormalities. Ten of the 61 patients (16%) had vertical talus in one foot and clubfoot in the other. Chromosomal abnormalities, all complete or partial trisomies, were identified in three patients with vertical talus who had additional congenital abnormalities. CONCLUSIONS: Vertical talus is a heterogeneous birth defect resulting from many diverse etiologies. Abnormal skeletal muscle biopsies are common in patients with vertical talus although it is unclear whether this is primary or secondary to the joint deformity. Associated anomalies are present in 62% of all cases.

Macrodistrofia lipomatosa: reporte de un caso / Macrodystrophia lipomatosa: a case report

Macrodystrophia lipomatosa (ML), is a Rare cause of non-hereditary localized gigantism, due to the progressi-ve proliferation of mesenchymal tissue, with a disproportionate increase of fibroadipose tissue in one or more digits of the affected extremity. This congenital abnormality occurs more frequently in the distribution of the median nerve (arm) and plantar nerve (leg). Etiology is uncertain, and it is frequently misdiagnosed as another cause of macrodactylia. This paperõreports a case of a 6 y.o. boy who presented overgrowth of the lst and 2nd digit of the right foot, and slight increase of the 3rd digit in the other foot. A multidisciplinary evaluation was performed, corresponding to the second case reported in Venezuela.

La Macrodistrofia lipomatosa (ML), es una causa infrecuente de gigantismo localizado, no hereditario caracterizado por proliferación progresiva de todos los elementos mesenquimáticos, con un incremento desproporcionado en el tejido fibroadiposo en uno o más dedos de la extremidad afectada. Esta anormalidad congénita ocurre más frecuentemente en la distribución del nervio mediano en el miembro superior y nervio plantar en el miembro inferior. La etiología de la ML es incierta y es una entidad clínica que con frecuencia es diagnosticada erróneamente como otras formas de macrodactilia. Reportamos el caso de un escolar de 6 años de edad quien presentó sobrecremiento de 1º y 2º ortejo del pie derecho y leve aumento del 3º ortejo del pie contralateral. Esta paciente fue evaluada de forma multidisciplinaria en nuestra institución y corresponde al segundo caso de MLõreportado en Venezuela.