Prevalence of Absence of Palmaris Longus Tendon in a Population Sample from a Multiethnic Brazilian City / Prevalência de ausência de tendão palmaris longus em uma amostra populacional de uma cidade brasileira multiétnica

Abstract Objective The objective of the study was to determine the prevalence of absence of palmaris longus tendon in a population sample from a multiethnic Brazilian city. Methods A cross-sectional observational study was carried out between October 2017 and April 2018. We included male and female volunteers aged 18 years or older. The absence of palmaris longus tendon was determined by asking the volunteers to perform the Schaeffer test bilaterally. Results We prospectively collected data on 1,008 volunteers, 531 male and 477 female, with age between 18 and 74 years (mean 38.4 years). The absence of palmaris longus tendon was observed in 264 (26.2%) volunteers. Bilateral absence was detected in 123 volunteers (12.2%), 60 female (48.8%) and 63 male (51.2%). Unilateral absence was found in 141 patients (14.0%), 54 female (38.2%) and 87 male (61.8%) (p < 0.05). Conclusion The prevalence of absence of palmaris longus tendon in our study was 26.2%. There was no statistically significant difference between gender and bilaterally. The absence of palmaris longus tendon was predominant on unilateral right side in males.

Resumo Objetivo O objetivo do presente estudo foi determinar a prevalência de ausência de tendão palmaris longus em uma amostra populacional de uma cidade multiétnica brasileira. Métodos Um estudo observacional transversal foi realizado entre outubro de 2017 e abril de 2018. Incluímos voluntários dos sexos masculino e feminino com 18 anos ou mais. A ausência do tendão palmaris longus foi determinada pedindo aos voluntários que realizassem o teste de Schaeffer bilateralmente. Resultados Foram coletados prospectivamente dados de 1.008 voluntários, 531 homens e 477 mulheres, com idade entre 18 e 74 anos (média de 38,4 anos). A ausência do tendão palmaris longus foi observada em 264 (26,2%) voluntários. A ausência bilateral foi detectada em 123 voluntários (12,2%), 60 mulheres (48,8%) e 63 homens (51,2%). A ausência unilateral foi encontrada em 141 pacientes (14,0%), 54 mulheres (38,2%) e 87 homens (61,8%) (p<0,05). Conclusão A prevalência de ausência do tendão palmaris longus em nosso estudo foi de 26,2%. Não houve diferença estatisticamente significativa bilateralmente e entre gêneros. A ausência do tendão palmaris longus foi predominante no lado direito unilateral no sexo masculino.

Bilobed Flap in Hand Clinodactyly Reconstruction: Technique Description and Result Appraisal / Retalho bilobado na reconstrução das clinodactilias da mão: Descrição da técnica e avaliação do resultado

Abstract Objective Clinodactyly is a congenital hand deformity that is characterized by coronal angular deviation and may occur in thumbs or fingers. Surgical treatment is indicated for severe angulations. Among the described techniques, one of the options consists of bone alignment by wedge-shaped addition osteotomy of the anomalous phalanx. Such alignment maneuver creates a problem in skin cover, along with soft-tissue tension at the concave aspect of the deformity. Hence, some sort of skin flap is required for the adequate operative wound closure. We aim to demonstrate the aforementioned technique and to assess the results of bilobed flap in the treatment of hand clinodactyly. Methods Retrospective study conducted between January 2008 and January 2015. Five patients were included in the study, including nine operated digits. Surgical indication consisted of angular deviations ˃ 30o. Neither patients with thumb deformities nor those with deformities associated to syndromes were excluded from the study. We assessed the functional and cosmetic outcomes of the technique, as well as complications and the satisfaction rates of the family. Results All patients had satisfactory functional and cosmetic results, with a mean skin healing of 18.6 days. Among nine operated digits, only one of the patients presented vascular compromise at the distal portion of the first flap lobe, albeit without necrosis or the need for any additional procedure. Patients were followed up on a minimum of 12-month interval. No deformity recurred during the observation period. Conclusion Bilobed flap for the treatment of hand clinodactyly is a good option for skin cover after the osteotomy.

Resumo Objetivo A clinodactilia é uma deformidade congênita da mão, caracterizada por desvio angular coronal, podendo ocorrer em polegares ou dedos. O tratamento cirúrgico é indicado para angulações severas. Dentre as técnicas descritas, uma das opções consiste no alinhamento ósseo, através de osteotomia em cunha de adição da falange anômala. Essa manobra de alinhamento gera uma dificuldade de cobertura cutânea, juntamente com a tensão das partes moles no lado côncavo da deformidade. Sendo assim, algum tipo de retalho cutâneo é necessário para o fechamento adequado da ferida cirúrgica. Objetivamos demonstrar a técnica citada e avaliar os resultados do retalho bilobado no tratamento das clinodactilias da mão. Métodos Estudo retrospectivo entre janeiro de 2008 e janeiro de 2015. Foram incluídos cinco pacientes no estudo, nove dedos foram submetidos à cirurgia. Tiveram indicação cirúrgica os pacientes com desvios angulares nos dedos acima de 30 graus. Não foram excluídos do estudo os pacientes com deformidades no polegar, nem aqueles com deformidades associadas a síndromes. Foram avaliados os resultados funcionais e estéticos com o uso desta técnica, assim como as complicações e o grau de satisfação dos familiares. Resultados Todos os pacientes apresentaram resultados funcionais e estéticos satisfatórios, com cicatrização cutânea média de 18,6 dias. Entre os nove dedos submetidos à cirurgia, apenas um dos pacientes apresentou comprometimento vascular na porção distal do primeiro lobo do retalho, porém sem necrose ou necessidade de qualquer procedimento adicional. Os pacientes foram acompanhados durante um intervalo mínimo de 12 meses. Nenhuma deformidade ocorreu durante o período de observação. Conclusão O uso do retalho bilobado no tratamento das clinodactilias da mão é uma boa opção para cobertura cutânea após a realização de osteotomia.

Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for two Chinese pedigrees affected with Coffin-Siris syndrome (CSS).@*METHODS@#Whole exome sequencing (WES) was carried out for the probands. Candidate variants were verified by Sanger sequencing of the probands and their family members.@*RESULTS@#The two probands were respectively found to harbor a heterozygous c.5467delG (p.Gly1823fs) variant and a heterozygous c.5584delA (p.Lys1862fs) variant of the ARID1B gene, which were both of de novo in origin and unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The c.5467delG (p.Gly1823fs) and c.5545delA (p.Lys1849fs) variants of the ARID1B genes probably underlay the CSS in the two probands. Above results have enabled genetic counselling and prenatal diagnosis for the pedigrees.

Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation

Abstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.

Genetic analysis of a Chinese pedigree affected with congenital split-hand/foot malformation / 中华医学遗传学杂志

OBJECTIVE@#To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft.@*METHODS@#Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation.@*RESULTS@#SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes.@*CONCLUSION@#Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.

Analysis of FGD1 gene variant in a child with Aarskog-Scott syndrome / 中华医学遗传学杂志

OBJECTIVE@#To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome.@*METHODS@#Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel c.1906C>T hemizygous variant of the FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c.1906C>T variant of FGD1 gene was predicted to be likely pathogenic(PM1+PM2+PM5+PP2+PP3+PP4).@*CONCLUSION@#The novel c.1906C>T variant of the FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.

Prevalence of Absence of Function of the Flexor Digitorum Superficialis Muscle Tendons in the Fourth and Fifth Fingers of the Hand in the Brazilian Population / Prevalência de ausência de função dos tendões do músculo flexor superficial do quarto e quinto dedos da mão na população brasileira

Abstract Objectives To evaluate the prevalence of absence of flexor digitorum superficialis muscle tendons function of the fourth and fifth fingers of the hand in the Brazilian population Methods Prospective study performed at the orthopedics and traumatology department of a university hospital. The study was conducted from October 2017 to April 2018. The sample consisted of volunteers with no history of upper limb trauma, surgery or any other condition. This study included both male and female individuals over 18 years old. The flexor digitorum superficialis muscle tendons of the fourth and fifth fingers were evaluated through clinical tests by three independent examiners. The data were analyzed using GraphPad Prism 5.0 (GraphPad Software, San Diego, CA, USA). Results A total of 2,016 hands from 1,008 volunteers were analyzed. The prevalence of absence of flexor digitorum superficialis muscle tendon function of the fourth finger was 0.56% at the right hand and 0.99% at the left hand. At the right hand, this prevalence was higher in females compared to males (p= 0.0328). No difference between genders was noted in the left hand (p= 0.7562). The prevalence of absence of flexor digitorum superficialis muscle tendon function of the fifth finger was 34.53% in the right hand and 30.06% in the left hand. This prevalence was higher in females compared to males, both at the right hand (p= 0.0001) and the left hand (p= 0.0003). Conclusion Even though there are studies performed separately in different ethnic groups, there were no data in the literature regarding the prevalence of absence of flexor digitorum superficialis muscle tendons function of the fourth and fifth fingers of the hand in a multiethnic population such as the Brazilian one.

Resumo Objetivos Avaliar a prevalência da ausência de função dos tendões do músculo flexor superficial do quarto e quinto dedos em uma população brasileira. Métodos Estudo prospectivo foi realizado no departamento de ortopedia e traumatologia de um hospital universitário. O estudo foi desenvolvido no período de outubro de 2017 a abril 2018. A amostra foi formada por voluntários sem histórico de trauma, cirurgia ou qualquer afecção dos membros superiores. Foram incluídos neste estudo indivíduos de ambos os gêneros com idade igual ou superior a 18 anos. A avaliação da função do tendão do múculo flexor superficial do quarto e quinto dedos foi realizada por meio de testes clínicos por três examinadores independentes. Para análise dos dados foi utilizado o programa GraphPad Prism 5.0 (GraphPad Software, San Diego, CA, EUA). Resultados Foram analisados 1.008 voluntários totalizando 2.016 mãos. A prevalência da ausência de função do tendão do músculo flexor superficial do quarto dedo foi de 0,56% na mão direita e 0,99% na mão esquerda. Em relação ao gênero, foi verificado na mão direita uma maior prevalência da ausência de função do flexor superficial do quarto dedo no gênero feminino quando comparado ao masculino (p= 0,0328). Na mão esquerda não foi observada diferença entre os gêneros (p= 0,7562). A ausência de função do músculo flexor superficial no quinto dedo foi de 34,53% na mão direita e de 30,06% na mão esquerda. Quando analisamos o quinto dedo em relação aos gêneros, foi verificado que a prevalência da ausência de função do músculo flexor superficial foi mais frequente no gênero feminino que no masculino, tanto na mão direita (p= 0.0001) como na mão esquerda (p= 0.0003). Conclusão Apesar de haver estudos realizados separadamente em diversas etnias, não havia na literatura dados referentes à prevalência da ausência de função do músculo flexor superficial do quarto e quinto dedos da mão em uma população miscigenada como a brasileira.

Prevalence of the Linburg-Comstock Anomaly in a Brazilian Population Sample / Prevalência da anomalia de Linburg-Comstock em uma amostra populacional brasileira

Abstract Objective To determine the prevalence of the Linburg-Comstock anomaly in a Brazilian population sample. Methods A cross-sectional observational study was carried out between October 2017 and April 2018. We included male and female volunteers aged 18 years or older. The presence of the Linburg-Comstock anomaly was determined by performing the clinical tests described by Linburg and Comstock. The data were analyzed using the GraphPad Prism software, and we considered differences with p < 0.05. Results The study analyzed 1,008 volunteers (2,016 hands) with a mean age of 38.3 years, 531 (52.67%) of which were male, and 477 (47.33%) were female. The Linburg-Comstock anomaly was diagnosed in 564 (55.95%) individuals, and it was bilateral in 300 (53.2%) of them, right-sided in 162 (28.72%), and left-sided in 102 (18.08%). No significant differences were found when comparing the prevalence between genders. However, a the prevalence of the right-sided anomaly in the male population (n = 99; 70.21%) was higher than in the female one (n = 63; 51.21%), with p = 0.0016. In addition, the presence of pain by the maneuver described by Linburg and Comstock was more prevalent in women (n = 150; 54.94%) than in men (n = 105; 36.08%), with p = 0.0001. These results show the importance of epidemiological studies on the Linburg-Comstock anomaly, mainly in order to investigate the presence of associated conditions. Conclusion The prevalence of the Linburg-Comstock anomaly in the studied population was of 55.95%, and it was bilateral in 53.2% of the volunteers. The presence of the connection was observed more frequently in the right side and among men, but the pain symptom was more frequent among women.

Resumo Objetivo Determinar a prevalência da anomalia de Linburg-Comstock em uma amostra populacional brasileira. Métodos Estudo observacional transversal realizado no período de outubro de 2017 a abril de 2018. Foram incluídos voluntários dos gêneros feminino e masculino, com idade igual ou superior a 18 anos. A presença da anomalia de Linburg-Comstock foi determinada pela realização dos testes clínicos descritos por Linburg e Comstock. Os dados foram analisados por meio do software GraphPad Prism, sendo consideradas diferenças com valores de p < 0,05. Resultados O estudo analisou 1.008 voluntários (2.016 mãos) com idade média de 38,3 anos, dos quais 531 (52,67%) eram do gênero masculino, e 477 (47,33%) eram do gênero feminino. A anomalia de Linburg-Comstock foi diagnosticada em 564 voluntários (55,95%) da população estudada, sendo bilateral em 300 (53,2%), direita em 162 (28,72%), e esquerda em 102 (18,08%). Não foram encontradas diferenças significativas quando se comparou a prevalência entre os gêneros. Porém, foi encontrada uma maior prevalência da anomalia direita na população masculina (n = 99; 70,21%) do que na feminina (n = 63; 51,21%), com p = 0,0016. Além disso, a presença da dor pela manobra descrita por Linburg e Comstock foi mais prevalente nas mulheres (n = 150; 54,94%) do que nos homens (n = 105; 36,08%), com p = 0,0001. Estes resultados mostram a importância dos estudos epidemiológicos sobre a anomalia de Linburg-Comstock, principalmente com o intuito de investigar a presença de afecções associadas. Conclusão A prevalência da anomalia de Linburg-Comstock na população estudada foi de 55,95%, sendo bilateral em 53,2% dos voluntários. A presença da conexão foi observada com maior frequência do lado direito em homens, mas o sintoma dor foi mais frequente nas mulheres.

Funcionalidad de prótesis de mano impresa en 3D en adolescentes con amputación congénita parcial de mano: una serie de casos / 3D-printed hand prostheses function in adolescents with congenital hand amputation: a case series

Resumen: Objetivo: Describir el efecto de la prótesis impresa en 3D Cyborg Beast en la funcionalidad de miembros superiores (MMSS) en adolescentes con amputación congénita parcial de mano. Casos Clínicos: Se seleccionaron 5 pacientes entre 12 y 17 años con amputación congénita parcial de mano en el Instituto Teletón Santiago. Los pacientes fueron entrenados en el uso de la prótesis por 4 sesiones. Se evaluó la función basal (sin prótesis), al mes y los 4 meses de uso de la prótesis con la pauta Bilan 400 points modificada y la percepción de funcionalidad de MMSS sin y con prótesis con la "Upper Extremity Function Index (UEFI)". Al mes y 4 meses de uso, el porcentaje de cambio para funcionalidad de mano fue de -11% y -4% para la extremidad no afectada y de -9% y -2% para la afectada. El porcentaje de cambio para la percepción de funcionalidad de MMSS fue de -62%. Conclusiones: El uso de la prótesis de mano Cyborg Beast no fue una solución funcional para los 5 pacientes incluidos en este estudio. Futuras investigaciones son necesarias para poder mejorar la funcionalidad de estos diseños de prótesis impresa en tecnología 3D.

Abstract: Objective: To describe the effect of the 3D-printed Cyborg Beast prosthesis on upper limbs function in adolescents with congenital hand amputation. Clinical Cases: Five patients aged between 12 and 17 years, with congenital hand amputation were selected. All patients were from the Teletón Institute in Santiago, Chile. The patients were trained for prosthesis use in four sessions. Hand function was evaluated without prosthesis, at 1 and 4 months of use with the modified Bilan 400 points scale, and upper limb function perception was evaluated with the 'Upper Extremity Functional Index (UEFI)'. At 1 month and 4 months of use, the percentage change for hand functionality for the unaffected limbs was between -11% and -4%; and -9% and -2% for the affected limb. The percentage change for the upper limbs perceived function was -62%. Conclusions: The use of the 3D-printed Cyborg Beast prosthesis was not a functional solution for the 5 patients included in this study. Future research is needed to improve the functionality of these types of 3D-printed hand prostheses.

General anesthesia for Crisponi syndrome: case report / Anestesia geral para Síndrome de Crisponi: relato de caso

Abstract Crisponi syndrome is a rare and severe heritable disorder characterised by muscle contractions, trismus, apnea, feeding troubles, and unexplained high fever spikes with multiple organ failure. Here we report perioperative care for endoscopic gastrostomy of a 17 month-old female child with Crisponi syndrome. Temperature in the surgery room was strictly monitored and maintained at 19ºC. The patient was exposed to both inhaled and intravenous anesthetic agents. Surgical and perioperative periods were uneventful. Episodes of fever in Crisponi syndrome arise from CRLF1 mutation, which differs from the physiological pathway underlying malignant hyperthermia.

Resumo A Síndrome de Crisponi é uma condição clínica hereditária grave e rara caracterizada por contrações musculares, trismo, apneia, distúrbios na alimentação, picos de febre alta e inexplicável, e falência de múltiplos órgãos. Descrevemos o cuidado perioperatório de paciente pediátrica com 17 meses de idade, portadora da Síndrome de Crisponi, submetida a gastrostomia endoscópica. A temperatura da sala de cirurgia foi cuidadosamente monitorizada e mantida a 19ºC. A paciente foi submetida a agentes anestésicos inalatórios e venosos. O cuidado cirúrgico e perioperatório desenvolveram-se sem incidentes. As crises de febre na Síndrome de Crisponi originam-se de mutação no gene CRLF1, o que as diferenciam do mecanismo fisiopatológico da hipertermia maligna.

Genetic analysis of a pedigree affected with congenital split-hand/foot malformation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM).@*METHODS@#Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs).@*RESULTS@#A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene.@*CONCLUSION@#The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.

Prevalencia de mano zamba radial en Hospital Shriners-México y revisión de la literatura / Radial club hand prevalence at Shriners Hospital-Mexico and literature review

Resumen: Introducción: La mano zamba radial congénita se caracteriza por la desviación radial de la mano como resultado de hipoplasia o ausencia del radio. Material y métodos: Se realizó un estudio descriptivo, retrospectivo, transversal y observacional de los pacientes activos con diagnóstico de mano zamba radial. Resultados: Se estudiaron 71 pacientes y 92 extremidades, la prevalencia en nuestro hospital fue de 0.08%, 64.7% fueron hombres y 35.3% mujeres. Se observaron 22 pacientes con afectación de la extremidad torácica derecha, 28 de la izquierda y 21 pacientes bilateral. Se encontró que 93% de los pacientes presentaban un síndrome asociado. El tipo de displasia longitudinal radial más común fue la tipo I. Cincuenta y ocho extremidades no contaban con pulgar. El Estado de México es el más afectado y 91.6% contaban con un responsable tutelar con escolaridad máxima de preparatoria.

Abstract: Introduction: Radial club hand is characterized by radial deviation of the hand, as a result of hypoplasia or absence of the radius. Material and methods: A descriptive, retrospective, cross-sectional and observational study of active patients diagnosed with radial club hand at the Shriners-Mexico Hospital was carried out. Results: We studied 71 patients and 92 limbs, the prevalence was 0.08%, 64.7% were men and 35.3% women. We observed 22 patients with involvement of the right thoracic extremity, 28 left and 21 bilateral. It was found that 93% of the patients had an associated syndrome. The most common type of radial longitudinal dysplasia was type 1. 58 limbs did not have a thumb. The State of Mexico is the most affected and 91.6% had a guardian with maximum high school education.

Genetic analysis of one family with congenital limb malformations / 中华医学遗传学杂志

OBJECTIVE@#To detect potential mutation in a Chinese pedigree affected with congenital limb malformations.@*METHODS@#Clinical data was collected. Genomic DNA was extracted from peripheral blood samples of family members. The zone of polarizing activity regulatory sequence (ZRS) were amplified by PCR and subjected to direct sequencing.@*RESULTS@#Among the 13 individuals in this pedigree, there were 4 PPD patients, who were characterized by varying degrees of deformity. The female patients suffered triphalangeal thumb and preaxial polydactyly, while the male patients only had preaxial polydactyly. Only one patient had foot involvement. TA heterogeneous mutations was discovered in the ZRS (105C>G) in all patients, the same mutation was not detected in 2 healthy family members.@*CONCLUSION@#The inheritance pattern of PPD was autosomal dominant inheritance. There was a significant variability of symptoms among family patients. The heterozygous mutation of the ZRS (105C>G) probably underlie the disease.

Vohwinkel syndrome: ichthyosiform variant in a family

Abstract: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.

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.

Identification of pathogenic mutation in a Chinese pedigree affected with split hand/split foot malformation / 中华医学遗传学杂志

OBJECTIVE@#To detect potential mutation in a Chinese pedigree affected with split hand/split foot malformation (SHFM).@*METHODS@#The patients were screened for genome-wide copy number variations with single nucleotide polymorphism (SNP) microarray. Copy number variations were verified by real-time fluorescence quantitative PCR.@*RESULTS@#There were 3 SHFM patients from three generations, which conformed to an autosomal dominant inheritance. SNP microarray assay revealed that all patients have carried a 0.34 Mb duplication in 10q24.31-q24.32 (102 993 649-103 333 271) encompassing the BTRC and DPCD genes. The result was verified by real-time fluorescence quantitative PCR, confirming that the duplication has co-segregated with the SHFM phenotype in the pedigree.@*CONCLUSION@#The 10q24.31-q24.32 duplication probably underlies the pathogenesis of SHFM in this pedigree. Tiny copy number variations can result in diseases featuring autosomal dominant inheritance.

Macrodactilia / Macrodactylie / Macrodactyly

Se presenta un paciente con macrodactilia progresiva del segundo y el tercer dedos de la mano derecha al cual se le realizó una amputación en rayo del segundo y tercer dedos con transposición de la base del cuarto metacarpiano a la base del tercero. El paciente presentó una evolución posoperatoria favorable con una estética y función de la mano aceptables(AU)

We present a male patient with progressive macrodactyly of the second and third fingers of the right hand. A ray amputation was made in the second and third fingers with transposition from the base of the fourth metacarpal to the base of the third. The patient had favorable postoperative evolution, with acceptable aesthetic and hand function(AU)

Un patient atteint de macrodactylie progressive du deuxième et troisième doigt de la main droite, ayant subi une amputation du deuxième et troisième rayon digital et une transposition de la base du quatrième métacarpien à la base du troisième, est présenté. Il a eu une évolution postopératoire favorable, avec esthétique et fonction acceptables(AU)

Unusual facies with delayed development and multiple malformations in a 14-month-old boy / 中国当代儿科杂志

Schinzel-Giedion syndrome is a rare autosomal dominant genetic disease and has the clinical features of severe delayed development, unusual facies, and multiple congenital malformations. In this case report, a 14-month-old boy had the clinical manifestations of delayed development, unusual facies (prominent forehead, midface retraction, hypertelorism, low-set ears, upturned nose, and micrognathia), and multiple congenital malformations (including cerebral dysplasia, dislocation of the hip joint, and cryptorchidism). The karyotype analysis and copy number variations showed no abnormalities, and whole exon sequencing showed a de novo heterozygous missense mutation, c.2602G > A (p. D868N), in SETBP1 gene. Therefore, the boy was diagnosed with Schinzel-Giedion syndrome. Myoclonic seizures in this boy were well controlled by sodium valproate treatment, and his language development was also improved after rehabilitation treatment. Clinical physicians should improve their ability to recognize such rare diseases, and Schinzel-Giedion syndrome should be considered for children with unusual facies, delayed development, and multiple malformations. Gene detection may help with the diagnosis of this disease.

Genetic analysis of three families affected with split-hand/split-foot malformation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic etiology of three families affected with split-hand/split-foot malformation (SHFM).</p><p><b>METHODS</b>Peripheral venous blood samples from 21 members of pedigree 1, 2 members of pedigree 2, and 2 members of pedigree 3 were collected. PCR-Sanger sequencing, microarray chip, fluorescence in situ hybridization (FISH), real-time PCR, and next-generation sequencing were employed to screen the mutations in the 3 families. The effect of the identified mutations on the finger (toe) abnormality were also explored.</p><p><b>RESULTS</b>Microarray and real-time PCR analysis has identified a duplication in all patients from pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in two patients from pedigree 2. FISH analysis of chromosome 10 showed that the rearrangement could fita tandem duplication model. However, next-generation sequencing did not identify the breakpoint.</p><p><b>CONCLUSION</b>The genetic etiology for three families affected with SHFM have been identified, which has provideda basis for genetic counseling and guidance for reproduction.</p>

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.