Analysis of the effectiveness of sequential plate internal fixation in correction of Madelung deformity after ulnar osteotomy and shortening / 中国修复重建外科杂志

OBJECTIVE@#To investigate the effectiveness of sequential plate internal fixation in the correction of Madelung deformity after ulnar osteotomy and shortening.@*METHODS@#The clinical data of 13 patients with Madelung deformity admitted between September 2015 and July 2021 were retrospectively analyzed. There were 5 males and 8 females with an average age of 18.3 years ranging from 17 to 23 years. The disease duration ranged from 12 to 24 months, with an average of 17 months. Three cases had a clear history of trauma. All patients had external radial deviation deformity and limited movement of the ulnar deviation, and the ulnar impact pain was significant during ulnar deviation movement; 9 patients had limited wrist joint supination movement, and the supination movement was normal. In the first stage, ulnar osteotomy and shortening combined with external fixator were used to correct wrist deformity in 13 patients. After operation, bone transfer was performed 6 times per day, with adjustments made every 4 hours, which was 1 mm per day. After the osteotomy was in place, the ulnar plate internal fixation was performed to reconstruct the ulnar stability in the second stage. The Cooney wrist joint score was used to assess the pain, function, range of motion, flexion and extension range of motion, and grip strength of the wrist joint before operation and before the removal of internal fixator. The subjective feeling and appearance satisfaction of patients were recorded.@*RESULTS@#After the second-stage operation, all the 13 patients were followed up 10-22 months, with an average of 15 months. The deformity of wrist joint disappeared after operation, and the flexion, extension, and ulnar deviation were basically normal. There was no complication such as ulnar impingement sign, nonunion or infection. Wrist function, pain, and range of motion were significantly improved after operation, except for 1 patient who had no significant improvement in rotation and pain. The ulnar internal fixator was removed at 10-18 months after the second-stage operation. The scores of pain, function, range of motion, flexion and extension range of motion, and grip strength in the Cooney wrist score before removal of internal fixator significantly improved when compared with those before operation ( P<0.05). Subjective and appearance satisfaction of patients were excellent in 9 cases, good in 3 cases, and fair in 1 case.@*CONCLUSION@#Ulnar osteotomy and shortening with sequential plate internal fixation for correction of Madelung deformity, with mild postoperative pain, can effectively avoid bone nonunion, improve wrist joint function, and have significant effectiveness.

Deformidad de Madelung: presentación de un caso / Madelung deformity: a case presentation

La deformidad de Madelung es una alteración poco común de la articulación de las muñecas. Se vincula a mutaciones del gen SHOX y se caracteriza por alteraciones en el radio, carpo y cúbito, con predominio bilateral. Afecta principalmente a pacientes de sexo femenino y aparece al inicio de la adolescencia. Se presenta una paciente de 15 años de edad, con antecedentes de problemas de salud. Al entrar en la adolescencia comenzó a presentar deformidad en ambas muñecas, más marcada en el lado derecho acompañado de dolor. El diagnóstico de deformidad de Madelung se concluyó mediante la clínica asociado a la positividad de los estudios imagenológicos, basados en los criterios radiográficos de Dannenberg y otros. Se decidió tratamiento quirúrgico, mediante osteotomía doble correctora para longitud y fijación externa de la mano derecha, con la resolución completa de la deformidad y seguimiento en la Consulta Externa de Ortopedia(AU)

Madelung's deformity is a rare alteration of the wrist joint. It is linked to mutations of the SHOX gene. It is characterized by alterations in the radius, carpus and ulna, predominantly bilateral. It mainly affects female patients; signs and symptoms are evident at the beginning of adolescence. To present a case of a patient with a diagnosis of Madelung deformity. The case of a 15-year-old female patient with a health history and family history of interest of an equine clubfoot father is presented. When she entered adolescence, she began to present deformity in both wrists, more marked in the right side accompanied by pain. This is a patient with a Madelung deformity. The diagnosis was concluded by the clinic associated with the positivity of the imaging studies(AU)

Deformidad de Madelung: presentación de un caso / Madelung deformity: case report

La deformidad de Madelung es una alteración poco común de la articulación de las muñecas, con una prevalencia desconocida por los pocos casos reportados hasta la actualidad. Se vincula a mutaciones del gen SHOX. Se caracteriza por presentar alteraciones en el radio, el carpo y el cúbito, con predominio bilateral. Afecta principalmente a pacientes de sexo femenino; los signos y síntomas se revelan al inicio de la adolescencia. Presentamos el caso clínico de una paciente de sexo femenino de 17 años que registra las manifestaciones clínicas y radiográficas características. (AU)

Madelung deformity is a rare alteration of the wrist joint of unknown prevalence due to the few cases reported. It has been linked to SHOX gene mutations. Madelung deformity is characterized by alterations of the radius, carpus and ulna, predominantly bilateral and mainly seen in female patients at the beginning of the adolescence. We report the clinical case of a 17-yearold female patient presenting the characteristic clinical and radiographic deformities. (AU)

Progress on research of Madelung's deformity / 中国骨伤

Madelung deformity is a rare deformity of forearm and wrist caused by growth disorders of distal radius ulnar and palmar epiphyseal. Current studies showed that its incidence mainly associated with trauma, epiphyseal developmental abnormalities, nutritional disorders and genetic deletion or mutation. The early clinical presentation is not typical, in middle and late time, wrist deformity and weak can appear. Plain film considered as the main means of diagnosis is often lack of early diagnosis significance. Although wrist joint magnetic resonance imaging showing early soft tissue and skeletal abnormalities were used for the early diagnosis of the disease, current domestic study in magnetic resonance imaging of this deformity is less. According to the size of the distal ulnar inclination angle and palm angle, this deformity can be divided into different types. The patients with severe deformity and symptoms usually need surgical intervention including ulna revision and osteotomy of the distal radius at present. Although the two operation can achieve good clinical results, the surgical trauma, infection and postoperative risk of joint activities are more.

Discondrosteose de Léri-Weill: importância do exame físico / Léri-Weill dyschondrosteosis: importance of physical examination

OBJETIVOS: Descrever um caso de Discondrosteose de Léri-Weill, uma displasia óssea hereditária rara, frequentemente associada a uma haploinsuficiência do gene SHOX (short stature homeobox-containing). DESCRIÇÃO DO CASO: Criança de três anos, sexo feminino, enviada à consulta de pediatria por suspeita de hipertensão arterial. Antecedentes pessoais e familiares irrelevantes. Ao exame físico apresentava aspeto dismórfico, com encurtamento dos membros superiores e inferiores, mãos e pés pequenos e pescoço curto. A hipertensão arterial não foi confirmada. O estudo genético para excluir cromossomopatia revelou mutações no gene SHOX compatíveis com Discondrosteose de Léri-Wei. CONCLUSÕES: O exame físico é fundamental na prática clínica, permitindo identificar alterações importantes que nem sempre são o motivo da consulta. Na Discondrosteose de Léri-Weill o pronto diagnóstico e a orientação adequada são fundamentais, sobretudo pelas implicações terapêuticas desse distúrbio, que apresenta evolução favorável se tratado com hormônio do crescimento.

AIMS: To report a case of Léri-Weill dyschondrosteosis, a rare hereditary bone dysplasia often associated with a haploinsufficiency of the SHOX (short stature homeobox-containing) gene. CASE DESCRIPTION: A three-year-old female had sought medical care for hypertension. Irrelevant personal and family background. The physical examination showed dysmorphic aspect with shortening of arms and legs, small hands and feet, and short neck. Hypertension was not confirmed. Genetic study for chromosomal deletion syndromes revealed mutations in the SHOX gene compatible with Léri-Weill dyschondrosteosis. CONCLUSIONS: Physical examination is essential in clinical practice, allowing the identification of majorchanges that are not always the reason for the medical appointment. Early diagnosis and proper guidance are essential in Léri-Weill dyschondrosteosis, especially because of its therapeutic implications. The outcome is favorable if the disorder is treated with growth hormone therapy.

A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene

Leri-Weill dyschondrosteosis is characterized by SHOX deficiency, Madelung deformity, and mesomelic short stature. In addition, SHOX deficiency is associated with idiopathic short stature, Turner syndrome, and Langer mesomelic dysplasia. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by SHOX gene mutation analysis in Korea. The patient, who was a 7-year-old female, showed short stature. Her height and weight were 108.9 cm (A (p.W164X) mutation of the SHOX gene. Accordingly, this patient was diagnosed with Leri-Weill dyschondrosteosis. Recently, many mutations have been reported in the SHOX gene. However, to date, mutation analysis of the SHOX gene for Leri-Weill dyschondrosteosis has not been reported in Korea as yet. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of the SHOX gene.

Free Fat Graft for Congenital Hand Differences

BACKGROUND: Free fat graft has been used for the treatment of congenital hand differences. However, there have been a few reports about the outcome of that treatment. In this study, the outcome of free fat grafts for congenital hand and foot differences was investigated. METHODS: Fourteen bones with longitudinal epiphyseal bracket, 3 wrists with Madelung deformity, and 5 cases of osseous syndactyly were treated with free fat graft with osteotomy, physiolysis, or separation of osseous syndactyly. Of the fourteen bones with longitudinal epiphyseal bracket, 9 were treated with open wedge osteotomy with free fat graft and 5 with physiolysis and free fat graft. The Madelung deformity was treated with physiolysis with free fat graft. For osseous syndactyly, syndactyly release with free fat graft was performed five times on four hands. RESULTS: In the fourteen cases with longitudinal epiphyseal bracket, lateral deviation improved in all except two cases after surgery. The average lateral deviation angle changed from 32.5 degrees before surgery to 15.2 degrees after surgery. The average improvement of the lateral deviation angle was 12.2 degrees in the osteotomy group and 20.6 degrees in the physiolysis group. The mean ratio of improvement of the lateral deviation angle to the lateral deviation angle before surgery was 39.4% in the osteotomy group and 51.2% in the physiolysis group. The Madelung deformity improved after surgery in two cases but there was no improvement in one case. For these conditions, the results were not good enough when surgery was done after age 13 or at age four for severely hypoplastic brachymesophalangy. Of the 5 cases of osseous syndactyly, reunion of the separated bones occurred in one case. The grafted free fat should be deep enough to cover the osteotomy site of the bones to prevent reunion of the separated bones. CONCLUSIONS: Physiolysis and free fat graft performed during the growth period can correct the deviation due to longitudinal epiphyseal bracket and Madelung deformity. Free fat graft is also useful to prevent reunion of the bones after separation of osseous syndcatyly, if the grafted fat is securely filled into the space between the separated bones.

Free Fat Graft for Congenital Hand Differences

BACKGROUND: Free fat graft has been used for the treatment of congenital hand differences. However, there have been a few reports about the outcome of that treatment. In this study, the outcome of free fat grafts for congenital hand and foot differences was investigated. METHODS: Fourteen bones with longitudinal epiphyseal bracket, 3 wrists with Madelung deformity, and 5 cases of osseous syndactyly were treated with free fat graft with osteotomy, physiolysis, or separation of osseous syndactyly. Of the fourteen bones with longitudinal epiphyseal bracket, 9 were treated with open wedge osteotomy with free fat graft and 5 with physiolysis and free fat graft. The Madelung deformity was treated with physiolysis with free fat graft. For osseous syndactyly, syndactyly release with free fat graft was performed five times on four hands. RESULTS: In the fourteen cases with longitudinal epiphyseal bracket, lateral deviation improved in all except two cases after surgery. The average lateral deviation angle changed from 32.5 degrees before surgery to 15.2 degrees after surgery. The average improvement of the lateral deviation angle was 12.2 degrees in the osteotomy group and 20.6 degrees in the physiolysis group. The mean ratio of improvement of the lateral deviation angle to the lateral deviation angle before surgery was 39.4% in the osteotomy group and 51.2% in the physiolysis group. The Madelung deformity improved after surgery in two cases but there was no improvement in one case. For these conditions, the results were not good enough when surgery was done after age 13 or at age four for severely hypoplastic brachymesophalangy. Of the 5 cases of osseous syndactyly, reunion of the separated bones occurred in one case. The grafted free fat should be deep enough to cover the osteotomy site of the bones to prevent reunion of the separated bones. CONCLUSIONS: Physiolysis and free fat graft performed during the growth period can correct the deviation due to longitudinal epiphyseal bracket and Madelung deformity. Free fat graft is also useful to prevent reunion of the bones after separation of osseous syndcatyly, if the grafted fat is securely filled into the space between the separated bones.

Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis

Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.

An illustrative case of Léri-Weill dyschondrosteosis

We report on a girl presenting Léri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstrated through detection of hemizygosity for microsatellite markers SHOX-CA repeat, DXYS10092, DXYS10093 and DXYS10091 localized around the SHOX gene, with retention of paternal alleles in the proband and three of her sisters who had short stature as the only clinical feature. Hemizygosity for these loci was also observed in their mother, who had short stature too. The deletion in the proband was however larger, including locus DXY10083. The proband's only sister with normal height did not carry the deletion. Family history suggests transmission of the deletion from the proband's maternal great-grandfather to her grandfather via the Y chromosome, and from the grandfather to the proband's mother via the X chromosome after crossing-over in the pseudoautosomal region proximal to the SHOX gene.

Ilizarov's Technique for Treatment of Madelung's Deformity by Lengthening and Re-Axation of the Distal Extremity of the Radius

Seven children (12 to 15 years) having madelung's deformity were considered for the study. All the children complained of aesthetic deformity with functional difficulties with their daily life activities. Ilizarov's technique by lengthening and re-axation of distal extremity of the radius was used as therapeutic modality. The short term follow up provides satisfactory results. However. long term study is needed to say with certainty that the technique prevent subsequent secondary osteo anthritis.

A Case of Leri-Weill Syndrome / 대한소아내분비학회지

Leri-Weill syndrome or Leri-Weill dyschondrosteosis represents a short stature syndrome that is characterized by symmetric shortening of the forearms and lower legs and a bilateral shortening and bowing of the radius with a dorsal subluxation of the distal ulna(Madelung deformity). Recent genetic analyses demonstrated that functional haploinsufficiency of SHOX(short stature homeobox-containing gene) accounts for Leri-Weill syndrome. Further studies are needed to explain phenotypic heterogeneity of SHOX defect. We experienced a case of Leri-Weill syndrome in a 11-year-old girl with short stature, who revealed typical Madelung deformity, mesomelic(middle segment) dysplasia, and a karyotype of 46,XX. In cases with dyschondrosteosis or Turner-characteristic dysmorphic skeletal features, detection of SHOX mutation is recommended.