A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

Abstract Background Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene. Objective The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers. Methods In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1. All the coding exons of the NECTIN4 gene were directly sequenced using gene-specific primers. Results The affected individuals presented the classical EDSS1 clinical features including sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia, proximal cutaneous syndactyly of fingers and toes. Sequence analysis of the coding region of the NECTIN4 identified a novel nonsense variant [c.163C>T; p.(Arg55*)] in exon-2 of the gene. Computational analysis of protein structure revealed that the variant induced premature termination at Arg55 located in Ig-like V-loop region leading to loss of Ig-C2 type domains and transmembrane region, and most likely Nectin-4 function will be lost. Study limitation Gene expression studies are absent that would have strengthened the findings of computational analysis. Conclusion The present study expanded the phenotypic and mutation spectrum of the NECTIN4 gene. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.

Clinical features and orbital anomalies in Fraser syndrome and a review of management options

Purpose: Fraser syndrome is a rare congenital disorder comprising cryptophthalmos, syndactyly, and many times, urogenital anomalies. Herein, the authors aimed to study and report the clinical features and orbital anomalies in cases diagnosed with Fraser syndrome. Methods: The authors retrospectively evaluated the records of patients with Fraser syndrome who had presented to a tertiary eye care hospital in northern India in the last 2 years (from January 2019 to December 2020). The clinical features were studied, entered in MS Excel, and the data was evaluated. Results: Data of 15 patients with Fraser syndrome were found. Majority of the patients were males and presented in the pediatric age group. Bilateral involvement was more common, and the most common variant of cryptophthalmos was abortive. Complete and medial madarosis of the eyebrows was the most common periocular finding. Complete cryptophthalmos was associated with cystic globes, whereas abortive forms had superior symblepharon. Common systemic features included syndactyly, bifid nose, and urogenital anomaly. Conclusion: Fraser syndrome is an extremely rare developmental disorder; it encompasses a wide range of ocular, periocular, and orbital anomalies, along with multiple pre?existing systemic anomalies. The treating ophthalmologist should always be careful in examining these patients

Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management

Purpose: Tessier classification is used to classify congenital facial cleft disorders utilizing the anatomical location of the cleft and its extension. The orbital and ocular morbidities associated with the birth disorder are numerous. The authors decided to perform a retrospective analysis of the clinical features of the patients who presented to a tertiary care hospital with orbito?cranial clefts. Methods: The authors retrospectively evaluated the records of patients with craniofacial clefts who had presented to a tertiary eye care hospital in northern India in the last 2 years (January 2019–December 2020). The clinical features were studied, entered in MS Excel, and the data were evaluated. Results: The data of 40 patients with Tessier cleft were found. The majority of the patients were male and presented in the pediatric age group. Unilateral involvement was more common, with maxillary hypoplasia being the most common facial anomaly associated. Eyelid coloboma and euryblepharon was the most common periocular finding; lateral epibulbar dermoid and corneal opacity were the most common ocular surface anomaly. The majority of patients had presented for cosmetic correction. The syndromic association was with Goldenhar syndrome (n = 13), Fraser (n = 2), and one each of Treacher Collins, blepharocheilodontic, organoid nevus, and oculo?dento?digital syndrome. Combined clefts were also seen. Conclusion: Tessier cleft classification is a useful tool to classify cranio?facial left anomalies. Multitudes of ocular and orbital anomalies can be associated with their different forms. Better knowledge and understanding of the classification will aid immensely in predicting the ocular defects and planning their management

Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome

Abstract Timothy Syndrome is a rare autosomal dominant multisystem genetic condition. The CACNA1C gene, codifier of the CaV1.2 calcium channel, is affected, resulting in the loss of voltage-dependent calcium channel inactivation. Relevant clinical characteristics: (1) corrected QT interval greater than 480ms; (2) syndactyly. Death often occurs during childhood, and results from ventricular tachyarrhythmias. This study presents the case of a female newborn who suffered a cardiorespiratory arrest, secondary to ventricular arrhythmia. A prolonged QT interval, combined with 2:1 AV block, was also identified, requiring a definitive cardiac pacemaker implant that, during inpatient care, developed pulmonary sepsis, followed by death.

Macrodactilia con sindactilia completa compleja en mano: reporte de caso / Macrodactylia with complete complex syndactyly in hand: case report

RESUMEN La macrodactilia es una anormalidad congénita rara que se presenta en el 0.9% de malformaciones en miembro superior. Se caracteriza por un crecimiento excesivo de los tejidos blandos, de los huesos y de los dedos. El principal objetivo del tratamiento es obtener una mano funcional y estéticamente aceptable que permita un desarrollo psicomotor adecuado. Se reporta el caso de paciente con macrodactilia junto con sindactilia compleja por fusión de la falange distal u sinoniquia asociada en dedos medio y anular de mano izquierda en donde a los 3 meses posteriores a la cirugía, hubo mejoría funcional y estética. MÉD.UIS.2021;34(2): 89-95.

ABSTRACT Macrodactyly is a rare congenital abnormality that occurs in 0.9% of upper limb malformations. It is characterized by an overgrowth of the soft tissues, bones, and fingers. The main objective of the treatment is to obtain a functional and aesthetically acceptable hand that allows adequate psychomotor development. The case of a patient with macrodactyly is reported together with complex syndactyly due to fusion of the distal phalanx or associated synonichia in middle and ring fingers of the left hand, where at 3 months after surgery there was functional and aesthetic improvement. MÉD.UIS.2021;34(2): 89-95.

Lethal and semi-lethal mutations in Holstein calves in Uruguay / Mutações letais e semi-letais em bezerros da raça Holandesa no Uruguai

ABSTRACT: Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production. In Uruguay, Holstein-based milk production is one of the most important sectors of the country's economy, but high levels of inbreeding have decreased the breed's fertility in recent decades. This study investigated the presence and diffusion of lethal and semi-lethal alleles causing embryo death, abortions, fetal malformations, and neonatal diseases in Holstein calves. Using the GeneSeek® Genomic Profiler™ Bovine 50K BeadChip, we genotyped 383 calves (1-30 days-old) from 27 farms located in the main dairy region of Uruguay. Results showed a high prevalence of farms (85%) and carrier calves (21%), including one or more of the following semi-lethal or lethal alleles: Syndactylism (4.18%), brachyspina (3.39%), cholesterol deficiency haplotype (2.61%), complex vertebral malformation (2.09%), bovine leukocyte adhesion deficiency (1.04%s), and Holstein haplotypes HH1 (4.44%), HH3 (3.13%), HH4 (1.04%), and HH5 (0.26%). Most of these alleles had not been recognized previously in Uruguay. We concluded that lethal and semi-lethal mutations are widespread in the Holstein breed in Uruguay. More studies are required to determine their impact on dairy cattle fertility.

RESUMO: Os distúrbios genéticos nos bovinos da raça Holandesa são um problema de saúde que cresceu nos últimos anos a nível mundial, comprometendo a sustentabilidade da produção leiteira moderna. No Uruguai, a produção leiteira com base na raça Holstein é um dos setores mais importantes da economia do país, mas altos níveis de endogamia diminuíram a fertilidade da raça nas últimas décadas. O objetivo deste estudo foi investigar a presença e difusão de alelos letais e semi-letais causando morte de embriões, abortos, malformações fetais e doenças neonatais em bezerros da raça Holandesa. Usando o BeadChip Bovino 50K GeneSeek® Genomic Profiler™, genotipamos 383 bezerros (menos de um mês) de 27 fazendas localizadas na principal região leiteira do Uruguai. Os resultados mostraram uma alta prevalência de fazendas (85%) e bezerros portadores (21%), incluindo um ou mais dos seguintes alelos letais ou semi-letais: sindactilismo (4,18%), braquipespina (3,39%), haplótipo de deficiência de colesterol (2,61%), malformação vertebral complexa (2,09%), deficiência de adesão de leucócitos bovinos (1,04% s) e haplótipos de Holstein HH1 (4,44%), HH3 (3,13%), HH4 (1,04%) e HH5 (0,26%). A maioria desses alelos não havia sido reconhecida anteriormente no país. Concluímos que as mutações letais e semi-letais são comuns na raça Holstein no Uruguai. Mais estudos são necessários para determinar seu impacto na fertilidade do gado leiteiro.

Monitoring of birth defects in perinatal infants born during 2015-2019 in Huainan City, Anhui Province / 中国基层医药

Objective:To analyze birth defects in perinatal infants in Huainan city, Anhui province.Methods:The data of perinatal infants with birth defects born during 2015-2019 who were monitored in nine national and provincial birth defect monitoring hospitals in Huainan City were collected. The changes in birth defects, the incidence of birth defects in infants ≥ 28 weeks, urban and rural area distribution of birth defects, type of defects, and the related factors of birth defects during a 5-year study period were analyzed.Results:A total of 90 466 perinatal infants with the incidence of birth defects of 89.87/10 000 were monitored during 2015-2019. The incidence of birth defects in Anhui Province was 139.74/10 000. The proportion of preterm infants < 28 weeks with birth defects among full-term births with birth defects was 30.93% and the proportion increased year by year during 2015-2019, with the proportion of 14.84%, 31.69%, 34.83%, 32.84% and 34.02% respectively. The top five birth defects detected during 2015-2019 were multiple fingers (toes) ( n = 189, 20.89/10 000), cleft lip ( n = 96, 10.61/10 000), external ear deformity ( n = 79, 8.73/10 000), congenital heart disease ( n = 65, 7.19/10 000) and syndactyly ( n = 40, 4.42/10 000). The incidence of birth defects in males and females was 102.77/10 000 and 85.28/10 000, respectively. The incidence of birth defects in urban and rural areas were 107.38/10 000 and 79.60/10 000, respectively. Conclusion:The incidence of birth defects in preterm infants < 28 weeks in Huainan City was lower than that in the whole Anhui Province. The incidence of birth defects in Huainan City differed in different years. The incidence of birth defects in males was higher than that in females. From 2016, the incidence of birth defects in urban area was higher than that in rural area. Birth defects mainly consisted of multiple fingers (toes), external ear deformity, congenital heart disease, cleft lip and syndactyly. The detection rate of birth defects in preterm (< 28 weeks) patients was increased year by year. Early intervention effectively decreased the incidence of birth defects and improved the quality of the population in Huainan City.

Xantoma tendinoso normolipémico múltiple en coexistencia con glaucoma terminal bilateral y sindactilia / Multiple normolipemic tendinous xanthoma in coexistence with bilateral terminal glaucoma and syndactyly

RESUMEN Los xantomas tendinosos están habitualmente asociados con hiperlipidemia, de ahí que son infrecuentes los xantomas tendinosos normolipémicos. La histopatología de este cuadro es característica por la presencia de células espumosas, hendiduras de colesterol y células de Touton. Presentamos el caso de un paciente varón de 22 años portador de xantomas tendinosos normolipémicos, en coexistencia con glaucoma terminal bilateral y sindactilia donde la histología y la inmunohistoquímica fueron de gran utilidad para el diagnóstico definitivo.

ABSTRACT Tendinous xanthomas are usually associated with hyperlipidemia, normolipemic tendinous xanthomas are uncommon. The histopathology of this condition is characterized by the presence of foam cells, cholesterol clefts, and Touton cells. We present a 22-year-old male patient with normolipemic tendon xanthomas, coexisting with bilateral terminal glaucoma and syndactyly, where histology and immunohistochemistry were very useful to reach the definitive diagnosis.

A case of polymelia associated with syndactyly in Didelphis aurita (Wied-Neuwied, 1826) / Relato de caso de polimelia associada a sindactilia em Didelphis aurita (Wied-Neuwied, 1826)

Abstract In January 2018, a young male of Didelphis aurita (Wied-Neuwied, 1826), the Brazilian common opossum, was admitted for veterinary evaluation at the Recovery Clinic of Wild Animals of Estácio de Sá University, CRAS, in Rio de Janeiro, Brazil, due to the presence of a partially duplicated right hind limb. After x-ray evaluation, polymelia associated with syndactyly was diagnosed. The images revealed the following alterations on the right limb: single femur with increased diameter, two tibiae, two fibulae and absence of hallux. The observed malformations were restricted to the hind right limb, which remains functional. This is the first report of such anomalies in an individual of Didelphis aurita.

Resumo Em janeiro de 2018, um macho jovem de Didelphis aurita (Wied-Neuwied, 1826), o gambá-de-orelha-preta, foi recebido para atendimento veterinário na Clínica de Recuperação de Animais Silvestres (CRAS) da Universidade Estácio de Sá, no Rio de Janeiro, por ser portador de membro posterior direito parcialmente duplicado. Após exame radiográfico, constatou-se a ocorrência de polimelia associada a sindactilia. As imagens radiográficas revelaram as seguintes alterações no membro posterior direito: um fêmur com diâmetro aumentado, duas tíbias, duas fíbulas e ausência de hálux. As malformações observadas restringiram-se apenas ao membro posterior direito, o qual mantém sua funcionalidade. Essas alterações nunca antes foram descritas na espécie Didelphis aurita.

Síndrome de Apert. Reporte de caso / Apert syndrome. Case report

RESUMEN Fundamento: El síndrome de Apert consiste en una enfermedad genética con anomalía craneofacial denominada acrocefalosindactilia; produce malformaciones en el cráneo como craneosinostosis, además de alteraciones en cara, manos y pies, puede ser hereditaria, secundaria a mutaciones esporádicas del gen FGFR2 y otros genes. Debido a los programas de pesquisaje genético el diagnóstico prenatal de este síndrome posibilita el asesoramiento genético y la asistencia médica multidisciplinaria. Objetivo: Ilustrar la importancia del diagnóstico prenatal del síndrome de Apert como elemento esencial para la atención multidisciplinaria posnatal del futuro niño. Reporte de caso: Se presenta un neonato de sexo masculino, nacido a las 39 semanas de gestación por parto eutócico, con signos de craneosinostosis y sindactilia en las manos y los pies por lo que se le realizó el diagnóstico posnatal de síndrome de Apert. Conclusiones: Los pacientes con el síndrome de Apert deben ser diagnosticados oportunamente durante la pesquisa prenatal, considerando el conjunto de sus signos y alteraciones y no como anomalías aisladas, como puede ocurrir de realizarse el diagnóstico en el período posnatal. De efectuarse el diagnóstico prenatal se lograría el tratamiento de forma multidisciplinaria y se podría garantizar al paciente una calidad de vida superior.

ABSTRACT Background: Apert syndrome consists of a genetic disease with craniofacial anomaly called acrocephalosyndactyly; it produces malformations in the skull such as craniosynostoses, in addition to alterations in the face, hands and feet, it can be inherited, secondary to sporadic mutations of the FGFR2 gene and some other genes. Due to genetic screening programs, the prenatal diagnosis of this syndrome enables genetic counseling and multidisciplinary medical assistance. Objective: To illustrate the importance of prenatal diagnosis of Apert syndrome as an essential element for the postnatal multidisciplinary care of the future child. Case report: A male neonate, born at 39 weeks of gestation by eutocic delivery, with signs of craniosynostoses and syndactyly on the hands and feet, so he was made the postnatal diagnosis of Apert syndrome. Conclusions: Patients with Apert syndrome should be diagnosed appropriately in time during prenatal screening, considering all their signs and alterations and not as isolated abnormalities, as may occur if the diagnosis is made in the postnatal period. If the prenatal diagnosis was made, the treatment would be achieved in a multidisciplinary way and a better quality of life could be guaranteed to the patient.

Contrast-enhanced three-dimensional water selective cartilage scan assessment of hand vessels in children with congenital syndactyly malformation / 中国医学影像技术

Objective: To observe vessels of hand for congenital syndactyly malformation (CSM) in children with contrast-enhanced three-dimensional water selective cartilage scan (CE-3D-WATSc). Methods Twelve children with CSM underwent CE-3D-WATSc before separation surgery of syndactyly were included. The bifurcated positions of common palmar digital arteries, the development and trend of proper palmar digital arteries were observed. The consequences of CE-3D-WATSc and intraoperative observation were compared and analyzed. Results: The common palmar digital arteries of hands in 12 cases were shown with CE-3D-WATSc, of which the bifurcated positions were normal in 10 cases and were slightly elevated to about 1/3 of proximal phalanges in 2 cases, which were completely consistent with the intraoperative observation results.The proper palmar digital arteries were displayed with CE-3D-WATSc in 10 cases, among which 9 were normal development and 1 was small, while not shown in 2 cases. During surgical operation, the proper palmar digital arteries were found in 12 cases, while being filamentous in 2 cases that not shown with CE-3D-WATSc. Conclusion: CE-3D-WATSc has some application values in evaluating vessels of hand for CSM in children before surgical operation.

Plane-shaped flap for reconstruction of the web space in polysyndactyly of the fifth toe fused with the fourth toe / 中华医学美学美容杂志

Objective@#To discuss the application of plane-shaped flaps for reconstruction of the web space in polysyndactyly of the fifth toe fused with the fourth toe.@*Methods@#A total of 62 cases (81 feet) with polysyndactyly of the fifth toe fused with the fourth toe were involved in the study, 53 of which were incomplete and 9 were complete fusion of the fourth and fifth toe. The fifth toe showed various degrees of fibular clinodactyly and minor deformities. Excision of polydactyly and then using arthroplasty or osteotomy correction deviation was for fibular clinodactyly. All plane-shaped flaps were used for reconstruction of the web space deeply, and the lateral sides of toes were closed with flaps and the distal soft tissues of polydactyly were used lengthening the reconstructed fifth toe. Brachydactylias were improved, and nail folds were reconstructed. Thus, the appearances reached the normal level.@*Results@#All the webs were reconstructed primarily without skingraft. After 12 months of follow-up, these reconstructed web space were satisfied with good appearances of width, depth and gradient. The fibular clinodactyly was completely corrected, and brachydactylias were corrected in various degrees. Nail folds reached the normal ones.@*Conclusions@#Plane-shaped flap in polysyndactyly of the fifth toe fused with the fourth toe for reconstruction of the web space is satisfactory. The reconstructed webs not only achieves good appearance, but also avoids skin grafts. It is one of the best choices of the polysyndactyly treatment.

Reconstruction finger web with dorsal two wing-shaped advancement flap for the treatment of congenital syndactyly / 中国修复重建外科杂志

Objective: To discuss the effectiveness of using dorsal two wing-shaped advancement flap to reconstruct finger web for treatment of congenital syndactyly. Methods: Between August 2014 and August 2017, 30 cases of congenital syndactyly were treated, including 18 males and 12 females with an average age of 2.5 years (range, 1.5-5 years). Eight cases were of bilateral hands syndactyly and 22 cases of single hand syndactyly. There were 39 webs of syndactyly (including 1 case of syndactyly of middle finger, ring finger, and little finger). Among them, 11 webs were complete and 28 webs were incomplete. At the dorsum, a flap with V-shaped tip and two wing-shaped pedicle was designed and was just sewed up with an anchor-shaped incision at the palm. Distal end of fingers were separated by serrated flap and were sutured after removal of fatty tissue. In 11 cases with tight skin connection, the defect area at lateral and distal end of fingers was repaired by small pieces of full-thickness skin graft. Results: All the flaps survived completely after operation, and no flap necrosis occurred. The skin grafts on the distal side of the finger survived and the wound healed by first intension. All 30 cases were followed up 6-12 months, with an average of 9 months. Postoperative flexion and extension function of fingers were good, and the web depth and width were normal. At last follow-up, according to the Swanson et al. standard, 20 fingers were graded as excellent, 8 as good, and 2 as fair, with an excellent and good rate of 93.3%. Conclusion: The effectiveness of using dorsal two wing-shaped advancement flap to reconstruction finger web for treatment of congenital syndactyly is satisfactory.

Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report / Achados oftalmológicos na displasia ectodérmica, ectrodactilia e síndrome da distrofia macular: relato de caso

ABSTRACT We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly.

RESUMO Relatamos um caso de duas irmãs, filhas de pais consanguíneos, apresentando uma condição semelhante de baixa acuidade visual associado à distrofia retiniana em ambos os olhos associado à alopecia e alterações ósseas ou sindactilia.

Resultados funcionales y estéticos del manejo quirúrgico de liberación de sindactilia en la mano infantil / Functional and aesthetic results of syndactyly surgical release in a child's hand

Introducción La sindactilia es una de las malformaciones hereditarias que con mayor frecuencia comprometen las manos. Es una de las causas de intervención quirúrgica por parte del Servicio de Ortopedia con poco registro bibliográfico en cuanto a su seguimiento posterior al procedimiento. El Objetivo del estudio es evaluar los resultados funcionales y estéticos posteriores al manejo quirúrgico de liberación de la sindactilia de la mano en niños con diagnóstico de sindactilia congénita. Materiales y métodos Estudio descriptivo retrospectivo, el cual incluyó a pacientes menores de 15 años que acudían a la consulta de ortopedia con diagnóstico de sindactilia congénita, los cuales fueron intervenidos para liberación quirúrgica de este defecto congénito y a los cuales se les realizó un seguimiento posquirúrgico. Resultados Se incluyó a 15 pacientes entre 0 y 15 años, de los cuales el sexo masculino representó el 73,3% el total de la población. El 53,3% de los pacientes con buenos resultados funcionales fueron intervenidos por la técnica reconstructiva del colgajo rectangular dorsopalmar y el 45,4% necesitaron injerto cutáneo. El 20% de los pacientes intervenidos presentaron tanto buenos resultados funcionales como estéticos posquirúrgicos, sin complicaciones y sin reintervenciones en la evaluación a los 3 meses del postoperatorio. Discusión El 73,3% de los pacientes presentaron buenos resultados estéticos y el 60%, al evaluarse los arcos de movilidad, presentaban buena funcionalidad. La intervención precoz estuvo relacionada con la disminución en el número de complicaciones y menor número de reintervenciones. Nivel de evidencia clínica Nivel IV.

Background Syndactyly is one of the inherited malformations that most often involve the hands. It is a frequent cause of surgical intervention, with few literature reports as regards follow-up and outcomes. The objective of the study is to evaluate the functional and aesthetic results after the surgical management of syndactyly release from the hands of children diagnosed with congenital syndactyly. Materials and methods A series of cases was conducted that included patients under the age of 15 who attended an orthopaedic clinic with a diagnosis of congenital syndactyly. All patients were subjected to surgery to release the congenital defect. All patients underwent post-operative follow-up for at least 3 months. Results The study included 15 patients aged 0-15 years, 73.3% of whom were male. The 53.3% of the patients with good functional results, were operated on using the reconstructive technique of the dorsal-palmar rectangular flap, with 45.4% requiring a skin graft. Twenty percent of the patients had both good postoperative functional and aesthetic results, with no complications and with no re-interventions in the 3 months postoperative follow-up. Discussion Almost three-quarters (73.3%) of the patients showed good aesthetic results, and 60% had good functionality,when evaluating the mobility arches. Early intervention was related to a decrease in the number of complications and a lower number of re-interventions. Level of evidence IV.

Application of dorsal double-wing flap for reconstruction of the web space in the fifth and fourth toe polysyndactyly / 中华整形外科杂志

Objective@#To explore the application of dorsal double-wing flap for reconstruction of the web space in the fifth and fourth toe polysyndactyly.@*Methods@#99 patients (112 feet) with polysyndactyly of the fifth toe fused with the fourth toe were treated, 75 of which were incomplete and 37 were complete fusion of the fourth and fifth toes. The fifth toes showed various degrees of fibular deviation and minor deformities. Excision of polydactyly and then with the use of wedge osteotomy correction deviation. Using 77 traditional and 35 modified dorsal double-wing flap for reconstruction of the web space, and close the lateral sides of toes with flaps from polydactyly. The distal soft tissue of polydactylies were used lengthening the reconstructed fifth toes.@*Results@#Polydactyly excision and syndactyly releasing in same procedure and lateral sides of the toes were all closed with flaps without skin grafts. Patients were followed up average 27 months after operation, the constructed web space showed good appearance, with slightly deeper or normal location. The fibular deviation were complete correction, and minor deformities were improved.@*Conclusions@#The dorsal double-wing flap is used for reconstruction of the web space in the fifth and fourth toes polysyndactyly without skin grafts. Reconstruction of the web depth, combined with lengthen distal end of the fifth could improve the toe appearance. Compared with traditional dorsal double-wing flap reconstruction of the web space, the modified flaps have better appearance in palmar of foot.

The use of a double-wing flap without skin graft for congenital syndactyly / 中华整形外科杂志

Objective@#To introduce a new surgical technique for the correction of congenital syndactyly without skin grafts.@*Methods@#The technique consists of a dorsal double-wing flap created from the dorsal skin of the metacarpophalangeal joint to cover the newly released web space and zigzag incisions in the fingers, thus avoiding the use of skin grafts in this area.@*Results@#From May 2010 to October 2016, 35 web spaces in 24 patients were treated using this technique. There were no complications such as haematoma, infection or flap necrosis. The average follow-up time was 54 months (range, 6 months to 60 months). One of the 35 webs developed web creep. No patients developed flexion contractures. All webs had good appearance with 45 degrees inclination from dorsal to palmar. All fingers had no obvious scar, and the flexion and abduction function were good.@*Conclusions@#The technique is simple, rapid, safe and easily performed and does not require the use of skin grafts.

Clinical analysis of the double-wing flap for treatment of toe syndactyly / 中华外科杂志

Objective@#To explore the clinical effect of double-wing flap for the treatment of toe syndactyly.@*Methods@#Retrospective analysis of 47 patients (60 syndactyly toes) who underwent double-wing flap to reconstruct toe web space in orthopedics department of the Third Affiliated Hospital of Zhengzhou University from February 2010 to October 2017.There were 21 males and 26 females, with an average age of 18.9 months (range: 10-48 months). All patients were treated with zigzag incisions to separate the toe syndactylys without skin grafts.The condition of wound healing and appearance of toes were observed.@*Results@#The average follow-up time was 62.3 months (range: 6 to 80 months). There were no complications such as hematoma, infection, flap necrosis and no flexion contracture and obvious scar hyperplasia in all the 47 cases, 4 of the 60 webs developed web creep.All webs had good appearance with 45 degrees inclination from the dorsal to the metatarsal side and had good flexion and abduction function.@*Conclusions@#The double-wing flap is a simple and safe operation for toe syndactyly which has a good clinical effect.

Manifestações musculoesqueléticas na síndrome de Klippel-Trenaunay / Musculoskeletal manifestations in syndrome Klippel-Trenaunay

A síndrome de Klippel-Trenaunay é uma doença congênita rara de etiologia não definida, caracterizada pela presença da tríade: manchas vinho do porto, malformações venosas ou veias varicosas e hipertrofia óssea e/ou tecidual. Acomete mais frequentemente os membros inferiores. O tratamento em geral é conservador, sendo as intervenções limitadas ao tratamento das complicações. Objetivo: Apresentar relato de caso de uma criança com manifestações musculoesqueléticas da síndrome avaliada por equipe multiprofissional, composta pelo serviço social, psicologia, fisioterapia, terapia ocupacional, fonoaudiologia, enfermagem e médico fisiatra. Método: Após avaliação foi definido trabalhar consciência e correção da postura assim como a percepção corporal, realização de atividade em ortostatismo, treino de equilíbrio, dissociação de cinturas e trocas posturais. Resultados: Paciente participou dos atendimentos multiprofissionais por dois meses, obteve melhor estabilidade da marcha, passando a ter marcha independente na comunidade, com velocidade maior e menor número de quedas. Conclusão: Recebeu alta com objetivos atingidos e pais sensibilizados quanto à importância de manter o seguimento multiprofissional e seguir os objetivos traçados em domicílio

Klippel-Trenaunay syndrome is a rare congenital disease with undefined etiology characterized by the presence of the triad: port wine stains, venous malformations or varicose veins, and bone and/ or tissue hypertrophy. It affects the lower limbs more commonly. Treatment is generally conservative, with interventions limited to the treatment of complications. Objective: To present a case report of a child with musculoskeletal manifestations of the syndrome evaluated by a multiprofessional team, composed of social work, psychology, physiotherapy, occupational therapy, phonoaudiology, nursing and a physiatrist. Methods: After evaluation, it was decided that awareness and correction of posture as well as body perception, performance of orthostatic activity, balance training, dissociation of waists, and postural changes would be approached by the multiprofessional team. Results: The patient received multiprofessional care for two months, obtained better gait stability, and had independent gait in the community, with higher speed and lower number of falls. Conclusion: She was discharged after achieving the goals and after her parents were sensitized regarding the importance of maintaining the multiprofessional follow up and follow the goals set for homecare