Fracture in Humeroradial Synostosis: Description of Two Clinical Cases / Fratura em sinostose rádio-umeral: Descrição de dois casos clínicos*

Abstract Synostosis is a generic term to indicate the union of two originally separated bones. At the elbow, humeroradial or longitudinal synostosis causes significant disability, which varies depending on hand function, elbow positioning, adjacent joints mobility and contralateral limb function. It is estimated that, to date, a little more than 150 patients have been described with this deformity, which is more common in subjects with deficient ulnar formation or affected by conditions such as Antley-Bixler and Hermann syndromes. The lack of the elbow joint, with the formation of a longer bone due to humerus-radius fusion, results in stiffness. As such, it is assumed that fractures in this topography are not uncommon. However, since synostosis is rare, this lesion was only described twice in the literature. We report two patients with a fracture of the single bone formed by a humeroradial synostosis and Bayne type-IV ulnar formation failure. Both patients were treated surgically with success. We emphasize the need for adequate treatment to not compromise the daily activities of patients who are adapted to their deformity, thus avoiding worsening the function of a previously affected limb.

Resumo Sinostose é um termo genérico utilizado para indicar a união de dois ossos originalmente separados. No cotovelo, a sinostose rádio-umeral ou longitudinal causa importante incapacidade, que varia a depender da função da mão, da posição do cotovelo, da mobilidade das articulações adjacentes e da função do membro contralateral. Estima-se que um pouco mais de 150 pacientes foram descritos até hoje com essa deformidade, sendo mais frequente em portadores de deficiência de formação ulnar ou podendo fazer parte de síndromes como de Antley-Bixler e de Hermann. Devidoàrigidezcausadapelaausênciadaarticulaçãodocotovelo,queresultana formação de um osso mais longo com a fusão do úmero no rádio, presume-se que fratura nessa topografia não seja incomum. No entanto, pela raridade dessa patologia, tal lesão apresenta apenas duas descrições prévias na literatura. Relatamos os casos de dois pacientes com fratura do osso único formado pela sinostose entre o úmero e o rádio portadores de falha de formação ulnar do tipo IV de Bayne. Ambos os pacientes foram tratados de forma cirúrgica e evoluíram bem. Salientamos a necessidade do tratamento adequado para não comprometer as atividades da vida de um paciente já adaptado à deformidade, evitando piorar a função de um membro já alterado.

Percutaneous Fixation without Bone Graft for Scaphoid Nonunion / Fixação percutânea sem enxerto ósseo para pseudartrose do escafóide

Abstract Objective To describe the clinical and radiographic outcomes of patients submitted to percutaneous fixation without bone graft for scaphoid nonunion, with a minimum follow-up of six months. Methods A case series study of a convenience sample of hand surgeons with prospective evaluation. Patients with scaphoid (waist or proximal pole) nonunion and the following features were included: more than six months of history; X-rays showing sclerosis of the edges of the nonunion, with resorption of the nonunion focus measuring less than 4 mm (Slade & Gleissler I, II, III and IV) and no angular deformity; and no proximal pole necrosis on magnetic resonance imaging (MRI). Results After six months of follow-up, all nonunion were consolidated, with no major complications. The functional outcomes revealed good scores on the disabilities of the arm, shoulder and hand (DASH; n = 12; mean: 6.9; standard deviation [SD]: 2.1) and patient-rated wrist evaluation (PRWE; n = 12; mean: 7.97, SD: 1.5) questionnaires. The results of the visual analog scale (VAS) showed little residual pain (n = 12; mean: 0.71; SD: 0.2). Slight decreases in flexion (69 versus 59.1; p = 0.007), extension (62.4 versus 48.7; p = 0.001) and radial deviation (29.6 versus 24.6; p = 0.014) were detected in comparison to the contralateral side. Conclusions All cases in the series presented consolidation and good functional scores at the six-month evaluation. This is a promising option (with lower technical demand and morbidity) for the treatment of scaphoid nonunion. Comparative studies are required to assess the effectiveness of this technique in comparison with other options.

Resumo Objetivo Descrever os resultados clínico-radiográficos de pacientes tratados por meio de fixação percutânea sem enxerto ósseo para pseudartrose do escafóide, com seguimento mínimo de seis meses. Métodos Série de casos de uma amostra de conveniência de grupo de cirurgiões de mão com avaliação prospectiva.. Foram incluídos pacientes com diagnóstico de pseudartrose do escafóide (cintura ou polo proximal) com as seguintes características: mais de seis meses de histórico; radiografias demonstrando esclerose das bordas da pseudartrose, com reabsorção do foco de pseudartrose menor do que 4 mm (Slade & Gleissler I, II, III e IV), sem deformidade angular; e sem necrose do polo proximal pela ressonância magnética (RM). Resultados Na avaliação com mais de seis meses, todas as pseudartroses estavam consolidadas e sem maiores complicações. Os resultados funcionais demonstraram boas pontuações nos questionários de disfunções do braço, ombro e mão (disabilities of the arm, shoulder and hand, DASH; n = 12; média: 6,9; desvio padrão [DP]: 2,1) e de avaliação do punho pelo paciente (patient-rated wrist evaluation, PRWE; n = 12; média: 7,97; DP: 1,5). Observou-se pouca dor residual de acordo com a escala visual analógica (EVA; n = 12; média: 0,71; DP: 0,2). Houve discreta diminuição da flexão (69 versus 59,1; p = 0,007), da extensão (62,4 versus 48,7; p = 0,001) e do desvio radial (29,6 versus 24.6; p = 0,014) em comparação ao lado contralateral. Conclusões Nesta série, todos os casos estavam consolidados ao sexto mês de avaliação, com bom status funcional. Trata-se de uma opção promissora (menor demanda técnica e morbidade) para o tratamento da pseudartrose do escafóide. Estudos comparativos serão úteis para avaliar a efetividade da técnica com relação a outras opções.

Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.

BACKGROUND: The of zone of polarizing activity regulatory sequence (ZRS) is a regulatory element residing in intron 5 of LMBR1 and regulates Sonic Hedgehog expression in the limb bud. Variants in the ZRS are generally fully penetrant and can cause triphalangeal thumb (TPT) and polydactyly in affected families. OBJECTIVE: In this report, we describe two families with mild phenotypical presentation. METHODS: We performed a field study for clinical evaluation and sequenced the ZRS for variantsusing Sanger sequencing. RESULTS: In family I, a novel 165A>G variant in the ZRS (g.156584405A>G, GRCh37/Hg19) was found. In family II, we identified a 295T>C variant in the ZRS (g.156584535T>C, GRCh37/Hg19). Family members of both families who were presumed to be unaffected shared the variant in the ZRS with affected family members, suggesting reduced penetrance of the genotype. However, clinical examination of these unaffected family members revealed minor anomalies like broad thumbs and lack of thumb opposition. As the phenotype in affected patients is remarkably mild, we suggest that these ZRS variants are minimally disruptive for Sonic Hedgehog expression and therefore can result in subclinical phenotypes. CONCLUSION: Our study underlines the importance of accurate clinical examination and appropriate genetic counselling in families with mild cases of TPT.

Relationship between the Progression of Kyphosis in Thoracolumbar Osteoporotic Vertebral Compression Fractures and Magnetic Resonance Imaging Findings / 대한정형외과학회잡지

PURPOSE: To examine the relationship between the progression of a kyphotic deformity and the magnetic resonance imaging (MRI) findings in conservatively treated osteoporotic thoracolumbar compression fracture patients. MATERIALS AND METHODS: This study categorized the patients who underwent conservative treatment among those patients who underwent treatment under the suspicion of a thoracolumbar compression fracture from January 2007 to March 2016. Among them, this retrospective study included eighty-nine patients with osteoporosis and osteopenia with a bone density of less than −2.0 and single vertebral body fracture. This study examined the MRI of anterior longitudinal ligament or posterior longitudinal ligament injury, superior or inferior endplate disruption, superior of inferior intravertebral disc injury, the presence of low signal intensity on T2-weighted images, and bone edema of intravertebral bodies in fractured intravertebral bodies. RESULTS: In cases where the superior endplate was disrupted or the level of bone edema of the intravertebral bodies was high, the kyphotic angle, wedge angle, and anterior vertebral compression showed remarkably progression. In the case of damage to the anterior longitudinal ligament or the superior disc, only the kyphotic angle was markedly prominent. On the T2-weighted images, low signal intensity lesions showed a high wedge angle and high anterior vertebral compression. On the other hand, there were no significant correlations among the posterior longitudinal ligament injury, inferior endplate disruption, inferior disc injury, and the progression of kyphotic deformity and vertebral compression. The risk factors that increase the kyphotic angle by more than 5° include the presence of injuries to the anterior longitudinal ligament, superior endplate disruption, and superior disc injury, and the risk factors were 21.3, 5.1, and 8.5 times higher than those of the uninjured case, and the risk differed according to the level of bone edema. CONCLUSION: An osteoporotic thoracolumbar compression fracture in osteoporotic or osteopenic patients, anterior longitudinal ligament injury, superior endplate and intravertebral disc injury, and high level of edema in the MRI were critical factors that increases the risk of kyphotic deformity.

Surgical Decision for Elderly Spine Deformity Patient / 대한정형외과학회잡지

Globally, the elderly population is increasing rapidly, which means that the number of deformity correction operations for elderly spine deformity patient has increased. On the other hand, for aged patients with deformity correction operation, preoperative considerations to reduce the complications and predict a good clinical outcome are not completely understood. First, medical comorbidity needs to be evaluated preoperatively with the Cumulative Illness Rating Scale for Geriatrics or the Charlson Comorbidity Index scores. Medical comorbidities are associated with the postoperative complication rate. Managing these comorbidities preoperatively decreases the complications after a spine deformity correction operation. Second, bone densitometry need to be checked for osteoporosis. Many surgical techniques have been introduced to prevent the complications associated with posterior instrumentation for osteoporosis patients. The preoperative use of an osteogenesis inducing agent

Nonsurgical Treatment of a Distal Radius Fracture: When & How?

Distal radius fractures are a common upper extremity fracture and a considerable number of patients have a stable fracture. In the treatment of distal radius fractures, there is considerable disagreement regarding the need for a strict anatomical restoration with operation in elderly patients. Therefore, nonsurgical treatment is a still important treatment option in distal radius fractures. The radiological parameters of before or after manual reduction are important for deciding whether to perform operation or not. The radiological parameters include dorsal angulation of the articular surface, radial shortening, extent of dorsal comminution, intra-articular displacement, concomitant ulnar metaphyseal fracture, shear fracture, and fracture-dislocation of the distal radio-ulnar joint. In addition, clinical situations of patients, including age, activity level, underline disease, and recovery level, which the patients wish should be considered, comprehensively. For the duration of a splint or cast, three to four weeks are recommended in impacted or minimally displaced fractures and five to six weeks in displaced fractures. After reduction of the displaced fractures, patients should undergo a radiologicical examination every week to check the redisplacement or deformity of the fracture site until two or three weeks post trauma. Arm elevation is important for controlling fracture site swelling and finger exercises, including metacarpophalangeal joint motion, are needed to prevent hand stiffness. Active range of motion exercise of the wrist should be initiated immediately after removing the splint or cast.

Sports Injury-Related Fingers and Thumb Deformity Due to Tendon or Ligament Rupture / 中华医学杂志(英文版)

<p><b>Background</b>Hand injuries are very common in sports, such as skiing and ball sports. One of the major reasons causing hand and finger deformity is due to ligament and tendon injury. The aim of this study was to investigate if the high-resolution 3T magnetic resonance imaging (MRI) can demonstrate the complex anatomy of the fingers and thumb, especially the tendons and ligaments, and provide the accurate diagnosis of clinically important fingers and thumbs deformity due to ligamentous and tendinous injuries during sport activities.</p><p><b>Methods</b>Sixteen fresh un-embalmed cadaveric hands were harvested from eight cadavers. A total of 20 healthy volunteers' hands and 44 patients with fingers or thumb deformity due to sports-related injuries were included in this study. All subjects had MR examination with T1-weighted images and proton density-weighted imaging with fat suppression (PD FS) in axial, coronal, and sagittal plane, respectively. Subsequently, all 16 cadaveric hands were sliced into 2-mm thick slab with a band saw (six in coronal plane, six in sagittal plane, and four in axial plane). The correlation of anatomic sections and the MRI characteristics of tendons of fingers and the ulnar collateral ligament (UCL) at the metacarpal phalangeal joint (MCPJ) of thumb between 20 healthy volunteers and 44 patients (confirmed by surgery) were analyzed.</p><p><b>Results</b>The normal ligaments and tendons in 16 cadaveric hands and 20 volunteers' hands showed uniform low-signal intensity on all the sequences of the MRI. Among 44 patients with tendinous and ligamentous injuries in the fingers or thumb, 12 cases with UCL injury at MCPJ of the thumb (Stener lesion = 8 and non-Stener lesion = 4), 6 cases with the central slip injury, 12 cases with terminal tendon injury, and 14 cases with flexor digitorum profundus injury. The ligaments and tendons disruption manifested as increased signal intensity and poor definition, discontinuity, and heterogeneous signal intensity of the involved ligaments and tendons.</p><p><b>Conclusions</b>Sports injury-related fingers and thumb deformity are relatively common. MRI is an accurate method for evaluation of the anatomy and pathologic conditions of the fingers and thumb. It is a useful tool for accurate diagnosis of the sports-related ligaments and tendons injuries in hand.</p>

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.

The Result of Percutaneous Screw Fixation without Bone Grafting for Scaphoid Waist Nonunion under Local Anesthesia

PURPOSE: The purpose of this study was to analyze the results of patients with scaphoid waist nonunion treated with percutaneous screw fixation without bone grafting under local anesthesia. METHODS: We enrolled scaphoid waist nonunion of 15 patients which had no deformity, displacement, evidence of avascular necrosis and bone cyst under 5 mm on its radiological study. All patients were male with an average age of 28.9±6.2 years (range, 17–38 years). The mean time to surgery from initial injury was 10.8±2.2 months (range, 6–14 months). All patients were treated with percutaneous screw fixation without bone grafting via volar approaching under local anesthesia and postoperative radiographs were reviewed and documented the flexion and extension arcs of the injured wrist and uninjured wrist, disability of the arm, shoulder and hand (DASH) score at final follow-up. RESULTS: All 15 patients showed radiological union at an average 5.5±1.0 months. At 12 months follow-up, the flexion and extension arcs of the injured wrist were 95% and 98.5% of the uninjured wrist. The average DASH score at final follow-up was 7±3.9 (range, 0–15). None of these patients showed any complications associated with surgery. CONCLUSION: Percutaneous screw fixation without bone grafting under local anesthesia was reliable primary treatment method for scaphoid waist non-union without displacement or deformation in the fracture site.

Optimizing Outcomes in the Reconstruction of Postburn Scar Hand Deformities

PURPOSE: Reconstruction of severe postburn hand deformities with flexion or extension contractures with finger webbing deformities, large hypertrophic scars of dorsal hand are frequently encountered problems in burn hand surgery. To obtain the good results after correction of various type of postburn scar hand deformities, we have used the sophisticated reconstructive procedures such as scar contracture release, skin graft, and use of acellular dermal matrix (ADM). We report reliability and usefulness of these novel updated procedures according the type of postburn hand deformities, and reviewed the literatures. METHODS: We had 82 postburn hand deformities. Among them we selected 7 patients of severe postburn hand deformities, which had different affected sites involving over 1/3 of hand. To reconstruct the finger flexion contractures, the scar contracture release and full thickness skin graft was most frequently performed. For correction of finger webbing deformities, the 5 flap Z-plasty for 1(st) web, dorsal and volar interposition flap for 2, 3 and 4 web, FTSG were used. The diffuse hypertrophic scar of dorsum of hand was reconstructed with total excision of scars, skin coverage with one piece of medium thickness STSG, and postoperative clenched hand position. The postburn palmar contractures was reconstructed with extensive contracture release followed by resurfacing with ADM (AlloDerm™) and thin STSG. The severe postburn abduction contractures of wrist was treated by total excision of scars, ADM (CGDerm™), and thin STSG. RESULTS: After 1 month to 1.6 years follow up, relatively satisfactory results were obtained in all patients. As complications, 1 case of recurrent palmar contractures, which was reconstructed with ADM (AlloDerm™) with thin STSG, were noticed. CONCLUSION: The postburn finger flexion contractures could be managed by the scar contractures release and FTSG. This method is very safe and reliable. For reconstruction of postburn finger webbing deformities, it is mandatory to use 5-flap Z-plasty for 1(st) webbing deformities, and dorsal and volar interposition flap for 2, 3 and 4(th) webbing deformities concomitantly with resurfacing with FTSG. The diffuse hypertrophic scars of dorsum of hand was managed by total excision of scars, resurfacing with one large piece of over medium thickness STSG, and postoperative clenched hand position. After release of scar contractures of hand, acellular dermal matrix (ADM) with thin STSG can be used in case of deficient FTSG donor site.

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

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

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

Chromosome 11q13 deletion syndrome / 소아과

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

ZRS mutations in two Chinese Han families featuring triphalangeal thumbs and preaxial polydactyly / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the causative mutations in two Chinese Han families featuring triphalangeal thumbs (TPT) and preaxial polydactyly (PPD).</p><p><b>METHODS</b>Blood samples were collected from 9 members (2 affected) from family 1 and 14 members (7 affected) from family 2. After genomic DNA was extracted, the ZPA regulatory sequence (ZRS) region was analyzed with real-time quantitative PCR (qPCR) and Sanger sequencing. For family 1, haplotypes compassing the ZRS were also analyzed with short tandem repeats (STR) and single nucleotide changes.</p><p><b>RESULTS</b>No copy number mutation around the ZRS region was found in both families. Two heterogeneous mutations in the ZRS (406A>G and 105C>G) were found to co-segregate with the TPT/PPD malformation in family 1 and 2, respectively. Neither mutation was detected in 200 healthy individuals. Haplotype analysis and Sanger sequencing of family 1 indicated that the first TPT/PPD patient in the family was both germline and somatic mosaic for the 406A>G mutation.</p><p><b>CONCLUSION</b>Two pathogenic ZRS mutations, 105C>G and 406A>G, have been identified in two Chinese Han families with TPT/PPD, among which the 406A>G mutation was de novo.</p>

A Comparison of Patient-Reported Outcome Measures Following Different Treatment Approaches for Adolescents with Severe Idiopathic Scoliosis: A Systematic Review

Adolescent idiopathic scoliosis (AIS) is a three-dimensional deformity of the spine which is usually not symptomatic and which can progress during growth and cause a surface deformity. In adulthood, if the final spinal curvature surpasses a certain critical threshold, the risk of health problems and curve progression is increased. Although surgery is usually recommended for curvatures exceeding 40° to 50° to stop curvature progression, recent reviews have shed some light on the long-term complications of such surgery and to the lack of evidence for such complicated procedures within the scientific literature. Furthermore, a number of patients are very fearful of having surgery and refuse this option or live in countries where specialist scoliosis surgery is not available. Other patients may be unable to afford the cost of specialist scoliosis surgery. For these patients the only choice is an alternative non-surgical treatment option. To examine the impact of different management options in patients with severe AIS, with a focus on trunk balance, progression of scoliosis, cosmetic issues, quality of life, disability, psychological issues, back pain, and adverse effects, at both the short-term (a few months) and the long-term (over 20 years). We searched CENTRAL, MEDLINE, EMBASE, CINHAL and two other databases up to January 2016 with no language limitations. We also checked the reference lists of relevant articles and conducted an extensive hand search of the grey literature. We searched for randomised controlled trials as well as prospective and retrospective controlled trials comparing spinal fusion surgery with no treatment or conservative treatment in AIS patients with a Cobb angle greater than 40°. We did not identify any evidence of superiority of effectiveness of operative compared to nonoperative interventions for patients with severe AIS. Within the present literature there is no clear evidence to suggest that a specific type of treatment is superior to other types of treatment.

Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of 17α-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.

Retalho tenar adipofascial reverso para cobertura do nervo mediano hipertrofiado em macrodactilia / The reverse adipofascial thenar flap for coverage of the hypertrophied median nerve in macrodactyly

A macrodactilia é uma anomalia congênita infrequente, caracterizada pelo crescimento desproporcional dos tecidos ósseo, gorduroso, nervoso, vascular e dérmico nos dedos das mãos ou dos pés. Existem muitas teorias sobre a sua etiopatogenia, sendo a mais aceita a hiperestimulação por fatores de crescimento enviados através dos nervos. Foram descritos alguns casos associados com a síndrome do túnel do carpo. Apresenta-se um caso clínico de síndrome do túnel do carpo por hipertrofia do nervo mediano, evidenciando um aumento de conteúdo dentro do retináculo flexor, o qual foi tratado cirurgicamente com sucesso pela realização de uma retinaculotomia do ligamento anular do carpo junto a um retalho de transposição tenar adipofascial reverso da região tenariana hipertrofiada visando à cobertura do nervo mediano na região do punho.

Macrodactyly is a rare congenital anomaly characterized by the disproportionate growth of bone, fat, nervous, vascular, and dermal tissue in the digits . There are many different theories about its etiopathogenesis, the most accepted being a hyperstimulation by growth factors conducted through nerves. A few cases have been described in conjunction with carpal tunnel syndrome. Here, a clinical case of carpal tunnel syndrome due to hypertrophy of the median nerve is presented, showing an increase of content within the flexor retinaculum. Successful surgical treatment was accomplished by conducting a retinaculotomy of the anterior annular ligament along with a reverse transposition adipofascial flap of the hypertrophied thenar region for coverage of the median nerve at the wrist.