Whole genome resequencing reveals candidate genes for postaxial polydactyly in Large White pigs.

Polydactyly is a genetic abnormality that affects both pig welfare and industry profits. Despite efforts to explore the genetic basis of pig polydactyly, progress remains limited. In this study, we analyzed a group of Large White pigs with postaxial polydactyly, including 29 cases and 79 controls from 24 families. High-depth sequencing was performed on 20 pigs, while low-depth sequencing was improved through imputation for the remaining pigs. A genome-wide association study (GWAS) and genetic differentiation were conducted using the resequencing dataset, resulting in the identification of 48 significantly associated SNPs and 27 candidate regions. The genetic differentiation regions on chromosomes 5 and 18, which harbored GWAS-identified SNPs, were delineated as confidence regions. The confidence region at Chr18: 1.850-1.925 Mb covers the fifth intron of LMBR1, a gene that contains an important regulatory element for SHH, known as ZRS. Mutations in this ZRS have been found to cause polydactyly in animals and humans. Therefore, we propose LMBR1 as a prospective candidate gene for postaxial polydactyly. These findings emphasize the importance of exploring the role of ZRS within LMBR1 in the pathogenesis of polydactyly in pigs.

Refinement of Surgery for Postaxial Polysyndactyly of the Toes: Esthetic Outcome in Japanese Feet.

PURPOSE: Treatment for polysyndactyly of the toes aims at cosmetic improvement but the lateroplantar rotation of the new fifth toe remains challenging. This study evaluated our novel surgical procedure for postaxial polysyndactyly of the toes. MATERIALS AND METHODS: Patients with postaxial polysyndactyly involving the fourth, fifth, and sixth toes treated in 2007 to 2017 with a minimum follow-up duration of 1 year were retrospectively investigated. Our aims of surgery for this condition were to avoid excessive lateroplantar rotation of the new fifth toe by using a proximally elongated plantar "shark-fin flap" and to make the tip of this toe appear to be naturally pointing inward by using the dog-ear component of the flap on the tip of the toe. The excess skin of the shark-fin flap was grafted onto the lateral surface of the fourth toe. Lateroplantar rotation of the fifth toe in these patients was compared with that in photographs of the feet of 96 normal 4-year-old children. RESULTS: A total of 11 feet in 10 patients (6 male, 4 female; mean age 1.3 years) were analyzed. Syndactyly between the fourth and fifth toes was complete in 3 feet, incomplete at the level of the distal interphalangeal joint of the fifth toe in 5, and incomplete at the level of the proximal interphalangeal joint of the fifth toe in 3. Lateroplantar rotation of the fifth toe, evaluated by the mean angle between 2 intersecting lines extending from the proximal nail fold of the third and fifth toes, was 25 ± 10° in normal feet and 0 ± 12° in operated feet with polysyndactyly. The absolute left-right difference in this angle was 7 ± 5° in normal children and 22 ± 12° in patients with polysyndactyly. Valgus deformity of the new fifth toe improved in all patients during a mean postoperative follow-up of 3.8 years. CONCLUSIONS: Using our procedure, no excessive lateroplantar rotation has been observed when the tip of the fifth toe is inclined inward using a dog-ear flap component. This procedure could be useful in patients in whom the cosmetic outcome is a priority.

Operative Management of Y-Shaped Metatarsal with Biphalangeal Sixth Toe.

BACKGROUND: In the literature, there is no consensus regarding the surgical management of postaxial polydactyly, and few cases of polymetatarsia with polydactyly have been reported. Treatment of the complete deformity will prevent further foot and gait disorders. OBJECTIVE: To identify literature relevant to the operative management of Y-shaped metatarsal with biphalangeal sixth toe and related skin and wound care to improve surgical treatment protocols from a clinical experience perspective. DATA SOURCES: The authors searched several electronic databases in December 2022 for articles related to postaxial polysyndactyly in the feet and polymetatarsia. Databases searched included PubMed, SciELO, ScienceDirect, Cochrane Database of Systematic Reviews, and Google Scholar gray literature. STUDY SELECTION: Two independent researchers conducted the searches and read the article titles and abstracts. Studies were included if they were narrative reviews, case studies, or observational studies; written in English or Spanish; and published between 2012 and 2022. Nonhuman studies were excluded. Studies that met the inclusion criteria were fully evaluated. Disagreements between reviewers were resolved by consensus, and when there was no consensus, a senior researcher was consulted. DATA EXTRACTION: The following data were extracted from the included studies using a standardized form: author and year of publication, study type, number of participants, sex, polydactyly location, polymetatarsia, type of polydactyly, participants' history of hereditary associated diseases or malformations, treatment, removal criteria, and timing of surgery. DATA SYNTHESIS: Authors evaluated 11 studies of postaxial polydactyly that included a total of 153 participants (64 men, 89 women). They also document their clinical experience with a surgical technique used in cases of bilateral postaxial polydactyly of the foot with a Y-shaped metatarsal with biphalangeal sixth toe. CONCLUSIONS: Surgical correction with lateral removal of the sixth toe is a resolutive treatment to improve the functionality of the foot, its aesthetic appearance, and the patient's quality of life. Case-specific treatment should be applied and tailored to meet the individual needs. The biomechanics of gait and shoe problems in these patients improve with surgical treatment, without presenting secondary aesthetic problems in skin care.

Alargamiento óseo con minitutor externo como tratamiento de braquimetatarsianos / Bone lengthening with external mini-fixator as treatment for brachymetatarsals

Introducción: La braquimetatarsia es un acortamiento de algún metatarsiano, debido principalmente a una detención prematura del crecimiento de la fisis. Es más frecuente en mujeres, y afecta, sobre todo, al cuarto y al primer metatarsiano. El objetivo de este estudio fue evaluar los resultados del tratamiento mediante alargamiento óseo progresivo con minitutor externo. Materiales y Métodos: Estudio descriptivo retrospectivo. Serie de casos. Se analizaron los resultados de los pacientes operados con esta técnica en nuestro Centro. Se analizaron 6 casos, dos con braquimetatarsia bilateral. Todas eran mujeres y tenían braquimetatarsia del 4.° metatarsiano. El promedio de edad era de 14 años. Se evaluaron los siguientes aspectos: alargamiento en milímetros y complicaciones, como retraso de la consolidación, infección, luxación metatarsofalángica, articulación metatarsofalángica en flexión y satisfacción del paciente. Resultados: Se logró un alargamiento promedio de 15 mm. Dos pacientes tuvieron una infección superficial de las agujas. Una paciente evolucionó con luxación de la articulación metatarsofalángica; otra, con flexión de la articulación metatarsofalángica. No hubo complicaciones neurovasculares. Conclusiones: El alargamiento óseo guiado con tutor externo es un tratamiento seguro y eficaz, además lograría un largo mayor en milímetros que el alargamiento en un tiempo, con un mejor control del alargamiento de partes blandas y estructuras neurovasculares. Todas las complicaciones se resolvieron de manera simple, no afectaron el resultado final del tratamiento. Las complicaciones concuerdan con las descritas en la literatura internacional. Nivel de Evidencia: IV

Introduction: Brachymetatarsia is a shortening of any metatarsal bone, mainly due to premature growth arrest of the growth plate. It is more frequent in women, the fourth and the first metatarsal being the most affected bones. The aim of this study was to evaluate the outcomes of progressive bone lengthening with external mini-fixator. Methods: This is a retrospective, descriptive, case series study in which we analyzed the outcomes of all patients operated on with this technique in our Center. Six cases were evaluated, two of them presented bilateral brachymetatarsia. All patients were women, and had brachymetatarsia of the 4th metatarsal. The average age was 14 years. The following aspects were evaluated: lengthening in millimeters and presence of complications, such as delayed consolidation, infection, metatarsophalangeal joint dislocation, metatarsophalangeal joint in flexion and patient satisfaction. Results: On average, an increase of 15 mm was achieved. Two cases presented superficial infection at the needle insertion site. One patient progressed to metatarsophalangeal joint dislocation, and another one to metatarsophalangeal joint flexion. No neurovascular complications were observed. Conclusions: Bone lengthening with external fixator is a safe and effective treatment. A greater length in millimeters can be achieved in comparison to one-stage lengthening, as well as an improved soft-tissue neurovascular stretching. All complications resolved smoothly and did not affect final treatment results. Complications are similar to those described in the international literature. Level of Evidence: IV

Digital formula is conditioned by deformities and footwear characteristics in older people. A comparison between general population and population with psychiatric disorders

Forefoot morphology is determined by toe length. It is hereditary and unlikely to change during a person’s lifetime, although certain factors may lead to modifications. This study examines whether extrinsic factors such as footwear or deformities are associated with changes in the morphology of the forefoot and its pathologies. A study was made of the forefoot morphology, deformities and footwear of 331 participants divided into two populations: a control group (168 participants) and a population of people living in an institution (163 participants with psychiatric disorders). The results show that although Egyptian foot is the most common morphology in both populations, square foot was more prevalent among the women in the control population than among the women in the institution group. In addition, the type of footwear used by the women in the control population was mostly high-heeled constrictive street footwear, compared to the non-constrictive home footwear worn by the women in the institution population, p-value < 0.001. A high prevalence of square feet was observed in the control group women with hallux valgus (HV), p-value 0.008. A relationship was detected between the presence of HV and its prevalence in participants with square foot, concurrent with the use of constrictive footwear and mostly affecting women. The combination of HV and constrictive footwear could explain the high prevalence of the square foot morphology. These footwear characteristics can be considered risk factors in the alteration of the digital formula and aggravation of the deformity suffered in older women

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A radiographic review of the subacromial architecture: a South African study

The subacromial space, which is occupied by the subacromial bursa, rotator cuff complex and the long head of the biceps brachii tendon, is a well-known area of study due to its association with subacromial disease. Although it is demarcated by the coraco-acromial arch and the supraglenoid tubercle, degenerative changes in these osteological components often lead to mechanical narrowing and subsequent tendon abrasion. In addition to the morphological characteristics, the morphometry of the subacromial architecture is considered to play an important role in maintaining glenohumeral stability. Accordingly, the present study outlined the morphometry of the subacromial architecture and the acromial morphology from a radiological perspective. A total of 120 true lateral-outlet view radiographs (n = 120), representative of 58 males and 62 females of the Black (12), Coloured (10), Indian (27) and White (71) race groups, were analysed. In addition to calculation of the standard and population-specific means, the acromial classification scheme of Bigliani et al. (1986) was adopted. A trend of ascending values from Type III (16.7%) to Type II (37.5%) to Type I (45.8%) acromia was noted. Various shapes of the subacromial space were observed, viz. rhomboidal (20.0%), trapezoidal (65.8%) and triangular (14.1%). Since a statistically significant P value of 0.030 was recorded for the comparison of acromial type with the shape of the subacromial space, the shape of the subacromial space appeared to be dependent on the acromial type. While the parameters were determined with regard to the demographic representation of South Africa, this study also provided standard mean values which were not previously reported. Furthermore, the correlation of the acromio-glenoidal length with side, gender and shape of the subacromial space reflected levels of significance and highlighted this parameter as a diagnostic determinant of subacromial disease due to its tendency to change in accordance with the demographic and morphological factors

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O impacto da intervenção fisioterapêutica sobre o desempenho motor e equilíbrio de uma criança com diagnóstico de síndrome do pterígio poplíteo: estudo de caso / The impact of physical therapy intervention on motor performance and balance of a child diagnosed with popliteal pterygium syndrome: case report

A síndrome do pterígio poplíteo (SPP) é uma doença congênita rara cujo tratamento fisioterapêutico visa independência funcional. O objetivo deste estudo foi verificar o efeito de um plano fisioterapêutico sobre a amplitude de movimento, o desempenho motor e o equilíbrio de uma criança com SPP. Menina de 4 anos realizou um programa interventivo com 20 sessões de fisioterapia de 40 minutos cada, uma vez por semana. Para avaliação dos resultados do programa, foram utilizados a Escala de Desenvolvimento Motor, a Escala de Equilíbrio Pediátrica e o Teste de Goniometria Manual. Ao término do período interventivo, e após 1 mês, a criança foi reavaliada, constando-se incrementos no desempenho motor, no equilíbrio e na amplitude de movimento, principalmente na extensão de joelhos. Demais ganhos podem não ter sido alcançados devido à adaptação prévia da criança à sua condição. Os resultados apresentados evidenciam a contribuição da fisioterapia para a melhora da independência funcional e da qualidade de vida do paciente com SPP (AU)

Popliteal pterygium syndrome (PPS) is a rare congenital disease whose physical therapy (PT) treatment aims at functional independence. The objective of this study was to investigate the effect of a PT plan on range of motion, motor performance, and balance of a child with PPS. A 4-year-old girl underwent an interventional program with 20 PT sessions of 40 minutes each, once a week. The Motor Development Scale, the Pediatric Balance Scale, and the Manual Goniometry Test were used to evaluate the results of the program. At the end of the intervention period, and after 1 month, the child was reassessed, showing increases in motor performance, balance, and range of motion, especially in knee extension. Other gains may not have been achieved due to the child's prior adjustment to her condition. The results presented here emphasize the contribution of PT to the improvement of the functional independence and quality of life of patients with PPS (AU)

Doble uña del quinto dedo del pie / Double Nail of the Fifth Toe

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Reporte de caso de síndrome FATCO: aplasia fibular, campomelia de tibia y oligosindactilia / A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly

El síndrome FATCO, por las siglas en inglés de aplasia fibular (Fibular Aplasia), campomelia de tibia (Tibial Campomelia) y oligosindactilia (Oligosyndactyly), es un conjunto de malformaciones óseas, en las que la alteración se centra en los huesos de la pierna. Es una entidad rara y hay pocos casos descritos en la Literatura internacional, y, hasta ahora, no se ha descrito ningún caso en Colombia. Presentamos aquí el caso de un recién nacido de sexo masculino con signos clínicos de manera prenatal y posnatal consistentes con síndrome FATCO sin otras malformaciones asociadas. Exponemos también una breve discusión sobre las diferentes malformaciones óseas y otros casos de FATCO en el mundo.

The FATCO syndrome, (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) are bone malformations with main alteration in lower limbs. It is a rare entity and there are few cases reported in international literature, and so far there are not published cases in Colombia. Here we present a case of a male newborn with prenatal and postnatal signs consistent with FATCO syndrome without other organs malformations, and there is a brief discussion about this syndrome and other different malformations associated with it.

Macrodactilia: estudo retrospectivo de quatro casos / Macrodactyly: a retrospective study of four cases

INTRODUÇÃO: A macrodactilia é uma anomalia rara e de etiologia desconhecida. Os primeiros casos foram descritos, em 1821, por Klein. Representa aproximadamente 1% de todas as anomalias congênitas. Surge no nascimento e caracteriza-se pelo crescimento dos dedos das mãos, dos pés ou de todo o membro; entretanto, pode se apresentar mais tardiamente, com os sintomas de compressão de nervo, podendo associar-se à síndrome do túnel do carpo. MÉTODOS: Estudo retrospectivo de quatro casos de macrodactilia atendidos no Hospital da Santa Casa Misericórdia de Campo Grande, MS, nos últimos 10 anos. RESULTADOS: Descrevemos quatro casos de macrodactilia, sendo três em quirodáctilos e um acometendo primeiro pododáctilo. Todos os pacientes tratados com procedimentos cirúrgicos, um dos casos com amputação de falanges e metacarpo. CONCLUSÕES: É recomendada a amputação como opção cirúrgica em alguns casos e o tratamento precoce da síndrome do túnel do carpo quando presente.

INTRODUCTION: Macrodactyly is a rare anomaly of unknown etiology. The first cases were described in 1821 by Klein. It represents approximately 1% of all congenital anomalies. It appears at birth and is characterized by excessive growth of the fingers, toes, or of the entire limb; however, its appearance may be delayed, with symptoms of nerve compression, and may present with carpal tunnel syndrome. METHODS: Retrospective study of four cases of macrodactyly treated at the Hospital da Santa Casa Misericórdia in Campo Grande, MS, in the last 10 years RESULTS: We describe four cases of macrodactyly: three in the fingers and one affecting the first toe. All patients were treated with surgical procedures, one with amputation of phalanges and metacarpals. CONCLUSIONS: Amputation is a surgical option recommended in some cases, as is the early treatment of carpal tunnel syndrome.

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1

No abstract available.

Ellis van Creveld: reporte de caso / Ellis van Creveld: Case report

Introduction: Ellis-van Creveld (EVC) (OMIM # 225500) syndrome is a rare skeletal dysplasia disorder transmitted by autosomal recessive inheritance. The diagnosis is made based on phenotypic characteristics such as chondrodysplasia, heart defects and polydactyly. The prognosis depends mainly on the severity of the disease, diagnosis and comprehensive management of the condition. Objective: To describe a patient diagnosed with EVC syndrome. Case report: Newborn diagnosed with EVC syndrome who presented dysmorphic facies, shortened long bones, rhizomelic shortening, small hands, brachydactyly, single transverse palmar crease, postaxial polydactyly in the upper limbs, bilateral preaxial polysyndactyly in lower limbs and hypoplastic nails, complex heart defects and narrow thorax. The evolution was unfavorable; the patient died 8 weeks after birth from complications due to heart defects. Conclusions: EVC syndrome is rare and unknown; therefore, it is important to spread its characteristics within the pediatric community, emphasizing that it affects multiple organ systems and requires a multidisciplinary approach to treat individually each patient, to provide genetic and reproductive counseling to couples and to give information regarding child development expectations.

Introducción: El síndrome Ellis-van Creveld (EVC) (OMIM #225500) es una displasia esquelética rara de herencia autosómica recesiva, cuyo diagnóstico se realiza por sus características fenotípicas como la condrodisplasia, cardiopatía y polidactilia. El pronóstico depende fundamentalmente de la severidad de la cardiopatía, al igual que del diagnóstico y manejo integral oportunos. Objetivo: Caracterizar un paciente con diagnóstico clínico de Síndrome de EVC, cuya baja frecuencia dificulta el correcto diagnóstico en pediatría. Caso clínico: Recién nacido con facies dismórfica, extremidades con huesos largos cortos, acortamiento rizomélico, manos pequeñas, braquidactilia, pliegue palmar único, polidactilia post axial en miembros superiores, polisin-dactilia preaxial bilateral en miembros inferiores y uñas hipoplásicas, cardiopatía compleja y tórax estrecho, en el que se concluyó un diagnóstico clínico de EVC. La evolución fue desfavorable, falleciendo a las 8 semanas de nacimiento por complicaciones secundarias a la cardiopatía. Conclusiones: El síndrome de EVC es de baja frecuencia y poco conocido, por lo que es importante difundir sus características en la comunidad pediátrica, haciendo énfasis en que al afectar múltiples sistemas y órganos, requiere un manejo multidisciplinario con el objetivo de intervenir en la patología individualizando cada paciente; además de consejería genética y reproductiva a las parejas, e información de las expectativas del desarrollo del niño.