Diagnóstico prenatal, síndrome Freeman-Sheldon mediante ultrasonido y estudio genético. Reporte de caso / Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report

Objetivos: Describir un caso de diagnóstico prenatal de síndrome de Freeman-Sheldon mediante hallazgos ecográficos y secuenciación completa del exoma fetal. Materiales y métodos: Mujer de 33 años, con antecedentes de hipotiroidismo en tratamiento, a quien en semana 19 se realizó ecografía de detalle anatómico, en la cual se observaron deformidades en el feto en más de dos áreas corporales (extremidades superiores e inferiores), sugiriendo el diagnóstico de artrogriposis. Posteriormente, se brindó asesoría genética y se realizó amniocentesis en semana 20 de gestación, con análisis de la hibridación in situ por fluorescencia, seguido de secuenciación completa del exoma fetal. Este último examen permitió identificar una variante patogénica heterocigota en el gen MYH3, la cual se asocia con la artrogriposis distal tipo 2A. Conclusiones: La realización de la secuenciación completa de exoma fetal es un factor clave para identificar la mutación del gen MYH3, y confirma que las deformidades evidenciadas por ultrasonido estaban relacionadas con la artrogriposis distal tipo 2A. Es importante hacer la secuenciación de exoma fetal en fetos que muestren hallazgos de malformaciones articulares en el ultrasonido prenatal.

Objectives: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing. Materials and methods: A 33-year-old woman currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis. Conclusions: Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound.

Are scoring systems useful for predicting results of treatment for clubfoot using the ponseti method? / Os sistemas de pontuação são úteis para prever os resultados do tratamento de pé torto equinovaro pelo método de ponseti?

ABSTRACT Objective: The aim of this study was to verify whether the Pirani and Dimeglio clinical scoring systems could predict results of Ponseti therapy. Methods: Forty-seven patients with clubfoot deformities treated with the Ponseti method were enrolled in the study. Clinical evaluation with the Pirani and Dimeglio scoring systems was performed before the treatment and after the second cast fixation. The number of fixations, necessity for achillotomy, and recurrence of the deformity were determined as parameters of the therapy results. The patients were divided into three groups according to the severity of their deformities, and the groups were compared with one another. Results: Clubfoot correction required an average of 6.8 casts. Five patients developed a recurrence. Comparing the therapy outcomes among the groups, we found statistically significant differences in the Pirani classification after the second fixation (the number of casts [p =.003] and necessity to perform an achillotomy [p =.014]) and in the Dimeglio scores before therapy (number of casts [p =.034]) and after the second fixation (number of relapses [p =.032]). Conclusion: Although clinical scoring systems showed some dependence on the parameters of treatment outcomes, their predictive function can be used in only a limited way. Level of evidence II, Prospective comparative study.

RESUMO Objetivo: O objetivo deste estudo foi verificar se os sistemas de pontuação clínica de Pirani e Dimeglio poderiam servir para prever os resultados do tratamento com o método de Ponseti. Métodos: Quarenta e sete pacientes com diagnóstico de pé torto equinovaro tratados pelo método de Ponseti foram incluídos no estudo. A avaliação clínica com os sistemas de pontuação de Pirani e Dimeglio foi realizada antes do tratamento e depois da segunda fixação de gesso. O número de fixações com gesso, a necessidade de realização de aquilotomia e a recorrência da deformidade foram determinadas como parâmetros dos resultados do tratamento. Os pacientes foram divididos em três grupos, de acordo com a gravidade das deformidades, e esses grupos foram comparados entre si. Resultados: A correção do pé torto exigiu uma média de 6,8 gessos e cinco pacientes apresentaram recidiva. Ao comparar os resultados do tratamento entre os grupos, verificou-se diferença estatisticamente significante na classificação de Pirani após a segunda fixação (número de gessos [p = 0,003], necessidade de realizar aquilotomia [p = 0,014]) e pontuação de Dimeglio antes do tratamento (número de gessos [p = 0,034]) e depois da segunda fixação (número de recidivas [p = 0,032]). Conclusão: Embora os sistemas de pontuação clínica tenham mostrado alguma dependência dos parâmetros dos resultados do tratamento, sua função preditiva pode ser usada de maneira limitada. Nível de evidência II, Estudo comparativo prospectivo.

Cadaveric Study Of Aberrant Tendoachilles Tendon In South Gujarat Region And Its Clinical Significance

Background: The tendoachilles tendon is the strongest and thickest tendon in the body begins near the middle ofthe back of leg which is made up of the tendons of the soleus and two heads of the gastrocnemius muscles andis attached to the midpoint of the posterior surface of the calcaneum. An aberrant (abnormal) tendoachilles isattached to just posterior to the tendo-achilles tendon, calcaneal tuberocity and on medial aspect of calcaneum.An aberrant tendoachilles tendon is responsible for resistant equines deformity of club foot. The existence ofaberrant tendoachilles tendon should be kept in mind by the orthopedic surgeons, podiatrist, sports physiciansand physiotherapists. A lack of awareness such variations might complicate surgical repair.Aim: The current study aimed at finding out the attachment of tendoachilles tendon, presence of any aberrant(abnormal) tendoachilles tendon insertion and related clinical significance i.e. resistant club foot.Materials and Methods: 108 lower limbs, 54 right and 54 left lower limbs of 54 donated embalmed cadavers (31males & 23 females) of age group ranging from 55 to 85 years were procured for dissection. The study wascarried out for a period of 7 years in the department of Anatomy SMIMER Surat.Results: The length of the tendoachilles tendon is 0-2cm in 3.70% of cases, 2-4 cm in 25.92% of cases, 4-6 cm in53.70% of cases, 6-8 cm in 9.25% of cases, 8-10 cm in 5.55% of cases, >10 cm only in 1.85% of cases. In all cases,attachment of tendoachilles tendon was found on posterior aspect of calcaneun that is normal. In addition tothat one of the case of left lower limb (0.92% of cases), tendoachilles tendon was found attached on medialaspect of calcaneun that is called as aberrant tendoachilles tendon.Conclusion: Aberrant tendoachilles tendon is responsible for resistant equines deformity of club foot. Most ofresistant club foot can be treated with use of an extensive posteromedial release of aberrant tendoachillestendon with satisfactory functional results. The presence of such aberrant tendoachilles tendon should be keptin mind by the orthopaedicians. A lack of awareness such variations might complicate surgical repair.

Effects of botulinum toxin type A injection on the walking ability of stroke survivors with spastic foot drop and talipes varus / 中华物理医学与康复杂志

Objective To observe the effect of injecting botulinum toxin type A ( BTX-A) into the tibialis anterior muscle on spasm and the walking function of stroke survivors with spastic foot drop and strephenopodia. Methods Fifty-six stroke survivors with spastic foot drop and strephenopodia were randomly divided into a tibialis anterior injection group ( Group TA) and a conventional injection group ( Group CG) , each of 28. Both groups had 50 U of BTX-A injected into the medial-lateral heads of the affected gastrocnemius and soleus muscles, and 35 U in-jected into each of two sites in the tibialis posterior. Group TA was additionally injected with 30 U in the tibialis ante-rior. Before the injection, as well as 2, 4 and 12 weeks afterward, both groups were evaluated using the modified Ashworth scale (MAS) for the plantar flexors and varus muscle groups, a 10-minute walking test (10 m-WT), a simple Fugl-Meyer assessment ( FMA) of the lower limb and a timed up and go test ( TUG) . Results Before the injection, there were no statistically significant differences in the average MAS, 10 m-WT, FMA or TUG results be-tween the two groups. After 2 weeks, however, the average MAS score of both groups had decreased significantly, and that improvement was maintained at 4 and 12 weeks after the injection. Moreover, 2, 4 and 12 weeks after the injec-tion, significant differences in the average MAS score were observed between the two groups. The average 10m-WT re-sults, FMA scores and TUG times of both groups also improved significantly, but there were significant differences between the two groups′10m-WT times and FMA scores after 2 and 4 weeks. Conclusions Injecting a small dose of BTX-A into the tibialis anterior can further relieve spasm in the tibialis anterior muscle and improve the walking a-bility of stroke survivors with spastic foot drop and strephenopodia.

Evaluación ultrasonográfica del tendón de Aquiles en niños con pie equino varo aducto congénito posterior a tenotomía de Aquiles con el método de Ponseti. Seguimiento a 12 semanas / Sonographic evaluation of Achilles tendon healing in tenotomies for congenital clubfoot and Ponseti's treatment. A 12-week follow-up

Resumen: Objetivo: Determinar el tiempo de curación del tendón de Aquiles en pacientes pediátricos tratados mediante tenotomía de Aquiles con método Ponseti en el Hospital Shriners para Niños de México, AC. Material y métodos: Estudio experimental, analítico, prospectivo, longitudinal de pacientes con diagnóstico de pie equino varo aducto congénito idiopático en tratamiento con método Ponseti con evaluación estática y dinámica mediante ecógrafo en tiempo real Siemens Diagnostic Ultrasound System Sonoline 650 con transductor lineal de 10.5 mHz seriada del tendón de Aquiles previa a la tenotomía y a las tres, seis, nueve y 12 semanas tras el tratamiento quirúrgico. Resultados: Se obtuvo una muestra de 23 pacientes, 16 masculinos y siete femeninos, 16 con patología bilateral y siete unilateral, para un total de 39 pies, 18 derechos y 21 izquierdos, con una media de edad de 8.3 ± 2.3 meses. Previamente a la tenotomía, la anchura en corte longitudinal ultrasonográfico media fue de 2.7 ± 0.42 mm; en la semana tres, la media fue 3 ± 0.39 mm; a las seis semanas, 2.92 ± 0.36 mm; el ultrasonido de las nueve semanas reportó media de 2.84 ± 0.38 mm y a las 12 semanas, 2.82 ± 0.39 mm. Se compararon mediante t de Student el ancho prequirúrgico y a las 12 semanas, sin encontrarse diferencia p > 0.03. Conclusiones: La valoración ecográfica muestra integridad a las tres semanas posteriores a la tenotomía de Aquiles. Sin embargo, la reparación completa se logra a las 12 semanas.

Abstract: Objective: The aim of this study was to determine the healing time of Achilles tendon in pediatric patients treated with Achilles tenotomy with the Ponseti method in Shriners Children's Hospital of Mexico, AC. Material and methods: Experimental, analytical, prospective, longitudinal study of patients with a diagnosis of idiopathic congenital clubfoot treated with the Ponseti method with serial static and dynamic evaluation by ultrasound in real time with a Siemens Diagnostic Ultrasound System Sonoline 650, linear transducer 10.5 MHz of Achilles tendon before tenotomy and at three, six, nine and 12 weeks after the surgical treatment. Results: A sample of 23 patients, 16 male and seven female, 16 with unilateral and seven with bilateral pathology was obtained, for a total of 39 feet, 18 right and 21 left, with a mean age of 8.3 ± 2.3 months. Before tenotomy, the width was 2.7 ± 0.42 mm; in week three, the average was 3 ± 0.39 mm; at six weeks, 2.92 ± 0.36 mm; ultrasound at nine weeks reported an average of 0.38 ± 2.84 mm, and 2.82 ± 0.39 mm at twelve weeks. They were compared using Student's t presurgical width and at twelve weeks, without finding difference p > 0.03. Conclusions: Although there is integrity at three weeks after Achilles tenotomy, complete repair is achieved at 12 weeks.

Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report

Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot.

Peters anomaly with post axial polydactyly, ocular hypertelorism, a low nasal bridge, retrognathia, undescended testis, microphthalmia, and club foot in an Indian neonate: A case report

A case of Peters anomaly with bilateral post axial polydactyly, convex soles, ocular hypertelorism, a low nasal bridge, retrognathia, undescended testis, microphthalmia and club foot was examined in a neonatal Indian baby girl who had been delivered in the hospital and admitted to the newborn unit. She died aged five days. There were no cases of Peters anomaly recorded in India according to a literature search. In addition, available data point to the majority of the principal associations in Peters anomaly to be genitourinary anomalies, making this case a rare one in its isolated collection of musculoskeletal associations. A Indian baby girl of who was born through a Cesarean section presented in the new born unit of our hospital with bilateral corneal opacities, bilateral polydactyly, camptodactyly and club foot. This is a rare case of Peters anomaly and its association with Patau syndrome makes it special

A study of dermatoglyphics in club foot.

Background: Development of dermatoglyphics pattern is under genetic control and it is established that aetiology of club foot is partly environmental and partly genetic. So study of dermatoglyphics pattern in club foot patient may become a diagnostic tool to know the development & inheritance of this clinical disorder. Methods: A total of 42 male child aged b/w 1-8 year were included, for obtaining the palmar and finger tip print standard ink method suggested by Kilgariff was used, and each palmar and finger print were examined for important parameters like loops, whorls, arches, a-t-d angle, a-b ridge count and TFRC count. Then results were tabulated and analysed statistically. Results: Frequency of whorls increase in both hands significantly, frequency of arches and ulnar loops decrease significantly, frequency of radial loops increase in right hand and decrease in left hand but difference was not significant. TFRC count was reduced significantly and no significant difference was found in a-t-d angle and a-b ridge count. Conclusion: Dermatoglyphics is a genetically determined reliable marker for detecting the incidence of club foot. Merely by identifying the dermatoglyphics pattern of couples with family history of club foot may be at risk of having their offspring affected, and they can be diagnosed early and preventive measures can be taken.

Morphometric changes in talus of club foot A gross observation in human foetuses / Cambios morfométricos en talus del pie zambo, una observación macroscópica en fetos humanos

Both the feet of six human foetuses of different age groups having unilateral club feet, were dissected for morphological study. Six morphometric parameters considered for comparing gross anatomical changes in normal and deformed feet, were 1-Maximum length of the talus, 2-Longitudinal dimension of head of talus, 3-Anterior trochlear breadth, 4-Maximum medial talar height, 5-Talar neck and calcaneal angle, 6-Talocalcaneal angle. All the foetuses with congenital club feet have almost similar deformity of foot skeleton. The gross anomalies observed were the smaller size of club foot talus and increased medial and planter deviation of a stunted, misshapen head and neck region. A medial plantar subluxation of the navicular bone with a consequent deformity of the articular facets of the talar head was also observed. Uniformity and consistency of anatomical abnormalities were striking features in present study.

Para su estudio morfológico fueron disecados ambos pies de seis fetos humanos de distintas edades, uno de los pies era zambo. Seis parámetros morfométricos fueron considerados para la comparación de graves alteraciones anatómicas en los pies normales y deformes; estos fueron: 1. Longitud máxima del talus, 2. Dimensión longitudinal de la cabeza del talus, 3. Ancho troclear anterior, 4. Altura medial máxima del talus, 5. Cuello talar y ángulo calcáneo, 6. Ángulo talocalcáneo. Todos los fetos con pie zambo congénito tienen una deformidad similar del esqueleto del pie. Las anomalías graves observadas fueron el menor tamaño del talus del pie zambo, aumento de la desviación media y retraso en el crecimiento plantar, deformación de la cabeza y región del cuello talar. También se observó una subluxación medial plantar del hueso navicular, con un consecuente deformidad de las facetas articulares de la cabeza del talus. La uniformidad y consistencia de las anomalías anatómicas fueron los rasgos más llamativos en este estudio.

The Characteristics of Fetus with Neural Tube Defect Accompanied by Club Foot in Prenatal Ultrasonography / 대한산부인과학회지

OBJECTIVE: The objective of this study is to determine whether the club foot of the affected fetus is related to the location, size, and rupture state of the spinal neural tube defect lesion. METHODS: Ultrasound and medical records of 21 fetuses with spinal neural tube defect were reviewed. At the time of diagnosis 7 fetuses had clubfoot and 14 fetuses didn't have. All the fetuses with spinal neural tube defect were divided into two groups, one with clubfoot fetuses, and the others without clubfoot. RESULTS: The mean lesion size of the clubfoot group was significantly larger than normal foot group (4.1+/-1.22 cm vs 2.1+/-1.59 cm). And the level of lesion is significantly higher in club foot group. But the rate of sac rupture is lower in club foot group. CONCLUSION: The fetuses with clubfoot detected at the time of diagnosis had larger size and higher level of lesion.

A new type of external frame for the treatmemnt of club foot / 中国矫形外科杂志

[Objective]A new type of external frame for the treatment of club foot in three dimensions was reported.The characteristics of this frame and Illizarov frame were compared.[Method]The new frame was consisted of 3 couples with 6 metal rods.The rods have lengthening or compressing force on foot in three dimensions respectively through 4 Kire wires in tibia,calcaneus and tarsals.Sixty-two cases with 85 club feet followed more than 12 months were treated by the frame since Fabruary 2004.[Result]According to Gaeceau standerd and clinical appearance,function of the feet after the treatment,40 feet were excellent,40 feet were good,5 feet were improved,no poor case.[Conclusion]The new type of external frame is safe,effective and reliable for the treatment of club foot in three dimensions.Compared to Illizarov frame,it is more simple,comfortable,cheep and easy to be managed.

Clinical Result of Surgical Treatment of the Idiopathic Club Foot / 대한정형외과학회잡지

Authors reviewed clinical results of idiopathic club foot, of 52 patients have been treated by surgery and followed up more than 2 years at the Department of Orthopaedic Surgery, Korea University, Guro Hospital in order to evaluate the results after surgery for idiopathic club foot and the best time for surgical management. Materials consist of 3 groups regarding the surgical regimen:Group I was of one-stage postermedial release(58 feet/36 patients), Group II of posterolateral release(11 feet/7 patients)and Group III of Lichtblau osteotomy(10 feet/9 patients). Assessment was made by the radiologic(Beatson and Ponsenti's)and clinical(Preson and Fell's)criterias. From the review the following observations were obtained: 1. Percentage of the surgically treated feet was 30% in author's series(97 feet/327 feet). 2. The mean age at the operation was 1 year 11 months in group I, 1 year 11 months in group II, 6 years 2 months in group III and 3 years 4 months(2 months – 12 years) in all groups. 3. The clinical results evaluated by Preston's method were good in 32 feet(55%), fair in 16 feet(28%), poor in 10 feet(17%) for the group I, 58 feet and good in 4 feet(36%), fair in 4 feet(36%), poor in 3 feet(28%) for the group II, 11 feet and good in 6 feet(60%), fair in 2 feet(20%), poor in 2 feet(20%) for the group OOO, 10 feet. 4. The radiologic results evaluated by Beatson and Posenti's criteriae were good in 44 feet(55%), fair in 18 feet(23%), poor in 17 feet(22%) in all groups. 5. The success rate of primary surgical treatment for idiopathic club foot was 81% in all groups and 83% in PMR group. 6. Regarding age at operation, the best result was showed between 1 and 2 years old in PMR group. In conclusion, the surgery was the satisfactory method for the treatment of idiopathic club foot and the posteromedial release was showed better results than the posterolateral release group. Results according to age at operation in PMR group, the best results obtained between 1 year and 2 years old. The results in posterolateral release group was poor because the forefoot adduction deformity was persistant.