Radial Osteotomy With Callus Distraction for the Correction of Severe Madelung Deformity.

We report a case of an 11-year-old girl with bilateral severe Madelung deformity who underwent radial osteotomy with callus distraction. The distal radial articulation was corrected at surgery, and a unilateral fixator was subsequently used for callus distraction. No postoperative complication was noted. The patient did not need any additional surgeries for correction of the deformity. Forty-three months after surgery, the patient had a nearly full range of motion without any pain. Forearm deformity was not noticeable, except for surgical scar on both wrists.

Use of a 3D Model for the Correction of a Complex Madelung Deformity in a Teenager: A Case Report.

CASE: The aim of the article is to report on a case of a teenager affected by Madelung deformity treated with a double osteotomy, planned by means of a 3D model. Using a custom-made cutting guide, the radial osteotomy was performed, and after the reorientation, a shortening ulnar osteotomy completed the procedure. Postoperative clinical assessment showed a normal alignment of the ulna with increased range of motion wrist motion. CONCLUSIONS: Using a 3D model when planning a multidirectional correction of a Madelung deformity may be advantageous to achieve a more accurate and precise realignment of the carpus and distal radioulnar joint.

Preliminary results of two novel devices for epiphysiodesis in the reduction of excessive predicted final height in tall stature.

BACKGROUND: In the treatment of tall stature, the reduction of excessive predicted final height can either be achieved by hormonal treatment or surgically by temporary (tED) or permanent (pED) epiphysiodesis. The present study evaluates the preliminary results of two novel devices for tED and pED around the knee to reduce the predicted final height. MATERIALS AND METHODS: A retrospective analysis was performed to evaluate the clinical and radiographic outcome after bilateral epiphysiodesis for the treatment of tall stature. A cohort of 34 patients (16 girls, 18 boys) who underwent either tED or pED between 2015 and 2020 were eligible for analysis based on the electronic patient records and picture archiving and communication system of our orthopaedic teaching hospital. tED was conducted in 11 patients (32%) through bilateral implantation of four RigidTacks™ (Merete, Berlin, Germany) around the knee. Twenty-three patients (68%) received pED, performed with an EpiStop™ trephine (Eberle, Wurmberg, Germany). The mean overall follow-up time was 2.9 years. RESULTS: The mean age at surgery was 12.3 years in girls and 13.2 years in boys. Patients had a mean body height of 175.2 cm in girls and 184.7 cm in boys at surgery. The mean predicted final height was 191.4 cm in girls and 210.4 cm in boys. At the last follow-up, 26 patients (76.5%) had achieved skeletal maturity. The mean height of skeletally mature patients was 187.2 cm in girls and 198.5 cm in boys. A mean reduction of the predicted final height of 5.9 cm in girls and 8.7 cm in boys was achieved, corresponding to a reduction in remaining growth of 46% in girls and 38% in boys. Secondary frontal plane deformities of the knee were detected in 5/11 patients (45.5%) in the tED group and 1/23 treatments (4.3%) in the pED group. CONCLUSIONS: tED and pED have both proven to be efficient at achieving growth inhibition to reduce excessive predicted height. However, tED has been associated with an increased risk of secondary angular deformities of the knee. Furthermore, the risk of implant-related complications and the necessity of a subsequent surgical intervention for implant removal have led our study group to abandon tED when treating tall stature. Long-term results of both procedures are pending.

Acellular Porcine Corneal Stroma May Not Be Optimal for Peripheral Keratoplasty: Reports of 2 Cases.

PURPOSE: Although acellular porcine corneal stroma (APCS) is a promising alternative to the human donor cornea for lamellar keratoplasty, here, we report 2 patients who exhibited persistent epithelial defects and sterile keratolysis after APCS transplantation to treat peripheral corneal diseases. METHODS: Two patients with different peripheral corneal diseases underwent lamellar keratoplasty by using D-shaped lamellar APCS as graft materials. Standard keratoplasty postoperative treatments, including topical antibiotic-corticosteroid, tacrolimus, and artificial tears, were applied. RESULTS: Patient 1 was a 7-year-old boy with limbal dermoid, and patient 2 was a 50-year-old man suffered from simultaneous Mooren ulcer with pterygium. Both patients developed persistent graft epithelial defects postoperatively, which were refractory to conventional nonsurgical therapies. The APCS grafts were noted to start sterile keratolysis at approximately 1 month after implantation and were completely dissolved within 3 months, leaving vascularized scars in the previously grafted area. CONCLUSIONS: These 2 cases demonstrated that given the high risk of postoperative persistent epithelial defect and sterile keratolysis, the application of APCS in peripheral keratoplasty may need further evaluation.

Geometric Profiling of Corneal Limbal Dermoids for the Prediction of Surgical Outcomes.

PURPOSE: To search for novel geometric parameters for corneal limbal dermoids that enable the prediction of clinical and surgical outcomes. METHODS: We reviewed the medical records and anterior segment photographs of 85 eyes of 85 patients with corneal limbal dermoids that had been surgically excised. Patients were assigned to the following 4 cohorts (multiple assignments allowed): postoperative visual acuity (cohort 1, n = 65), amblyopia (cohort 2, n = 67), postoperative scar formation (cohort 3, n = 51), and preoperative spontaneous progression of dermoids (cohort 4, n = 39). For geometric profiling, 11 geometric parameters of lesions, including orientation, angular width, and 9 ratio parameters, were preoperatively defined in each patient based on the digital anterior-segment photographs. Each geometric parameter and demographic variable were analyzed for correlation with postoperative outcomes (cohorts 1-3) and preoperative spontaneous dermoid progression (cohort 4). RESULTS: The mean patient age at surgery was 6.0 ± 6.3 years. Among the geometric and demographic parameters analyzed, the invaded angular axis of dermoid to corneal diameter ratio had the highest r coefficient (r = 0.728) in cohort 1 and best stratified patients in cohort 2 (cutoff > 0.48) and cohort 3 (cutoff > 0.56). No parameters were correlated with spontaneous dermoid progression in cohort 4. CONCLUSIONS: We devised geometric parameters to evaluate corneal limbal dermoids before surgery for the prediction of surgical outcomes. The invaded angular axis of dermoid to corneal diameter ratio value was the most significant factor associated with postoperative visual acuity, amblyopia development, and postoperative scarring.

Long-term Outcomes Following Vickers Ligament Release and Growth Modulation for the Treatment of Madelung Deformity.

BACKGROUND: Madelung deformity arises from a partial distal radial growth disturbance in combination with an abnormal hypertrophic ligament spanning the volar radius and carpus, termed, the Vickers ligament. The purpose of this study is to report long-term clinical and radiographic outcomes following Vickers ligament release and distal radial physiolysis in a population of skeletally immature patients with symptomatic Madelung deformity. METHODS: Medical records were retrospectively reviewed of patients with Madelung deformity surgically treated between 1994 and 2005. All eligible patients who underwent a Vickers ligament release and distal radial physiolysis were contacted and invited to return to the clinic for follow-up. RESULTS: Six patients (8 wrists) with Madelung deformity underwent Vickers ligament release and distal radial physiolysis. All were white females with a mean age at initial presentation of 11.4 years (10 to 12.8 y). Mean age at the time of initial surgery was 12.0 years (10.0 to 14.5 y). The median follow-up time was 10.6 years (5.8 to 21.9 y) and the average age at last follow-up was 23.1 years (17.5 to 32.2 y). Pain alone or in combination with concerns for deformity was the chief complaint in 6 of 8 of the wrists. At 1 year of clinical follow-up, 7 of 8 wrists were reported to be pain-free, and 6 of the 8 were noted to be completely pain-free at last follow-up. Motion in flexion, extension, pronation, supination, radial, or ulnar deviation was similar between the preoperative status and long-term follow-up. The average preoperative ulnar tilt was 35.1 degrees (SD: 8.5 degrees), average preoperative lunate subsidence was 1.9 degrees (SD: 1.8 degrees), and average preoperative palmar carpal displacement was 21.9 degrees (SD: 2.9 degrees). At the final follow-up, there was a large progression in lunate subsidence, but minimal change in ulnar tilt and palmar carpal displacement. At last clinical follow-up, 2 of the 6 patients had undergone a subsequent procedure including 1 radial dome osteotomy and 1 ulnar shortening osteotomy. CONCLUSION: In the skeletally immature patient population with Madelung deformity with growth potential remaining, distal radial physiolysis and Vickers ligament release is associated with relief of pain, preservation of motion, and, a reasonable rate of reoperation. TYPE OF STUDY: This was a therapeutic study. LEVEL OF EVIDENCE: Level II.

GAPO syndrome with craniosynostosis and intracranial hypertension.

BACKGROUND: GAPO (growth retardation, alopecia, pseudoanodontia, and optic atrophy) as a rare genetic disorder includes growth retardation, alopecia, pseudoanodontia, and optic atrophy. It was reported to be associated with craniosynostosis and intracranial hypertension. CASE REPORT: A patient with such a rare disorder associated with multisuture craniosynostosis and headache is presented. Surgery has been done due to intracranial hypertension. CONCLUSIONS: Abnormal intraoperative findings including sever pericranium and dural adhesions and extraordinary bleeding related to this syndrome are described.

Surgical Management of Madelung Deformity: A Systematic Review.

Background: Madelung deformity is a congenital wrist condition characterized by volar subluxation of the wrist caused by premature growth arrest of the distal radius. Progressive symptoms can necessitate surgical intervention, yet optimal treatment strategy remains unknown. The aim of this study is to determine treatment options, surgical indications, and operative outcomes for Madelung deformity. Methods: This study adhered to the Meta-Analyses of Observational Studies in Epidemiology (MOOSE) guidelines. A comprehensive systematic review was performed to identify all studies describing surgical interventions for Madelung deformity. All studies were evaluated by level of evidence and a self-developed quality assessment tool. Results: Twenty-five studies met inclusion criteria; all case series with type IV level of evidence. Studies assessed pain, range of motion, aesthetic deformity, and grip strength. The primary indication for surgery was the presence of wrist pain. Various surgical procedures exist and could be categorized as radial lengthening, ulnar shortening, or a combination of both. All studies report postoperative pain reduction and most studies report an improved range of motion. Conclusions: A variety of surgical procedures reportedly have satisfactory outcomes. However, outcomes are reported in an inconsistent manner, prohibiting pooling of studies and comparisons of surgical procedures and their outcomes. We propose several methodological changes for implementation in future studies, increasing the quality of evidence to compensate for small patient numbers.

Treatment of Madelung Deformity With Vicker Ligament Release and Radial Physiolyses: A Case Series.

PURPOSE: To evaluate the surgical outcomes in a series of Madelung wrists treated with a Vicker ligament release at a young age. We hypothesize that early treatment of Madelung deformity with Vicker ligament release is safe and may minimize progression of deformity. METHODS: A retrospective review was performed at a single large pediatric institution from 2013 to 2016 of patients with a diagnosis of Madelung deformity treated with Vicker ligament release and radial physiolysis. Exclusion criteria included patients who were skeletally mature, who underwent osteotomy procedures, or who had incomplete follow-up. Patient demographics were collected, concomitant surgeries were recorded, and outcomes including range of motion and pain were documented. Measurements of standard anteroposterior and lateral radiographs were calculated before and after surgery to monitor radiographic deformity and progression. RESULTS: Six girls with bilateral Madelung deformity who underwent bilateral Vicker ligament resection and radial physiolysis (12 total wrists) were included. The average age at presentation was 7.5 years (range, 7-9 years), with an average follow-up of 30 months. Reasons for presentation included sports injuries (2), ulnar-sided wrist pain (2), and mild deformity (2). Additional radial and ulnar epiphysiodeses were performed in 2 wrists each. There were no intraoperative complications. Although pain resolved within the first month after surgery for all patients, 2 patients had intermittent unilateral ulnar-sided wrist pain at final follow-up. All patients returned to their presurgery activities. There was no loss of range of motion, and 4 wrists with preoperative supination deficits improved by an average of 17°. Radiographic measurements demonstrated improvement in the radial physeal angle in 10 out of 12 wrists (83%). No patients displayed worsening deformity after surgery. Two patients underwent subsequent procedures. CONCLUSIONS: In patients with early Madelung deformity, Vicker ligament release with radial physiolysis is a safe treatment option that theoretically has the potential to minimize the progression of radiographic deformity. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic V.

Progressive large pediatric corneal limbal dermoid management with tissue glue-assisted monolayer amniotic membrane transplantation: A case report.

RATIONALE: Limbal dermoids are choristomas known as congenital benign tumors found in abnormal locations. Despite the benign nature, enlarging limbal dermoids may cause visual abnormalities by cornea infiltration with fat component, visual axis invasion, gradually induced corneal astigmatism, and finally result in anisometropic amblyopia. Here we report a rare case of progressive, large pediatric corneal limbal dermoid in a newborn, managed with tissue glue-assisted monolayer amniotic membrane transplantation. PATIENT CONCERNS: A 1-day-old male baby (gestational age, 36 ±â€Š6 weeks; birth body weight, 2785 gram) presented to our clinic with a whitish mass on his right eye since birth. DIAGNOSIS: Ocular examination revealed a solid, whitish-yellow, and ovoid mass with central keratinized epithelium over the superior limbus; the lesion covered two-thirds of the cornea with rapid progression in size. The final pathological examination revealed that the lesion is composed of keratotic lining squamous epithelium resembling epidermis, underling dermal fibrotic connective tissue, and mature fat. INTERVENTIONS: The patient underwent deep lamellar excision followed by mitomycin C (MMC) soaking (0.2 mg/mL, 3 minutes) and tissue glue-assisted monolayer amniotic membrane transplantation with the ring conformer at 2 months of age. OUTCOMES: The ring conformer was smoothly removed 2 weeks after the operation. The patient showed a smooth healing process with less pain and rapid corneal re-epithelization. The ocular surface was stable during the follow-up visits, and no complications were detected. Only mild post-operative scarring over the incision wound was observed. LESSONS: Although a combination of excision, lamellar keratoplasty, and multilayer amniotic membrane and limbal stem cell transplantation is advocated for the treatment of grade II and III pediatric corneal limbal dermoids, the procedure used in this study offers an alternative surgical approach. However, because of the large size of the lesion and the young age of the patient, the management of amblyopia with visual rehabilitation and corneal transplantation is still needed in the future.

Johanson-Blizzard syndrome with associated urogenital anomalies.

We present a case of a child with pancreatic insufficiency and facial defects typical of Johanson-Blizzard syndrome (JBS), along with the more facultative anomalies of the JBS, such as those of the urogenital system including persistent urogenital sinus, urethral duplication and dysplastic kidneys. Fetal ultrasound in a 21-year-old G1P1 woman revealed ambiguous genitalia. Examination at birth revealed a phallic structure with urethral meatus, non-palpable gonads, two orifices in close proximity in the perineum, with the anterior being a common urogenital channel and the posterior, the rectum. A voiding cystourethrogram/genitogram showed bilateral high-grade vesicoureteral reflux and a common urogenital sinus extending 1.5 cm before dividing into three channels: the native urethra, an accessory urethra directed anteriorly towards the clitoris and a septate vagina with uterus didelphys. JBS was suspected by clinical presentation and confirmed by UBR1 molecular testing (46,XX). At 16 months of age, she underwent feminising genitoplasty and posterior sagittal anorectoplasty.

Long-term follow-up after bilateral percutaneous epiphysiodesis around the knee to reduce excessive predicted final height.

CONTEXT: Percutaneous epiphysiodesis (PE) around the knee to reduce predicted excessive final height. Studies until now included small numbers of patients and short follow-up periods. OBJECTIVE AND DESIGN: This Dutch multicentre, long-term, retrospective, follow-up study aimed to assess adult height (AH), complications, knee function and patient satisfaction after PE. The primary hypothesis was that PE around the knee in constitutionally tall boys and girls is an effective treatment for reducing final height with low complication rates and a high level of patient satisfaction. PARTICIPANTS: 77 treated adolescents and 60 comparisons. INTERVENTION: Percutaneous epiphysiodesis. OUTCOME: AH, complications, knee function, satisfaction. RESULTS: In the PE-treated group, final height was 7.0 cm (±6.3 cm) lower than predicted in boys and 5.9 cm (±3.7 cm) lower than predicted in girls. Short-term complications in file search were seen in 5.1% (three infections, one temporary nerve injury), one requiring reoperation. Long-term complications in file search were seen in 2.6% (axis deformity 1.3%, prominent head of fibula 1.3%). No significant difference in knee function was found between treated cases and comparisons. Satisfaction was high in both the comparison and PE groups; most patients in the PE group recommended PE as the treatment for close relatives with tall stature. CONCLUSION: PE is safe and effective in children with predicted excessive AH. There was no difference in patient satisfaction between the PE and comparison group. Careful and detailed counselling is needed before embarking on treatment.

Open Wedge Osteotomy with Ulnar Shortening for Madelung Deformity Using a Computer-Generated Template.

A variety of osteotomies have been reported to correct Madelung deformity using plain radiographs. However, evaluation of the deformity using 2-dimensional plain radiography is difficult because of its complex 3-dimensional nature. Therefore, we performed corrective osteotomy using recently developed 3D simulation technology on an adult woman with Madelung deformity, and achieved an excellent outcome. In this study, we calculated the amount of parallel displacement as well as the rotational angle for more precise correction, and performed open wedge osteotomy. Furthermore, we performed concurrent ulnar shortening. An exaggerated radial inclination was observed in the posteroanterior radiograph. A palmar shift of the carpus and dorsal dislocation of the ulnar head were observed in the lateral radiograph. In the preoperative findings, radial inclination (RI), volar tilt (VT), and ulnar variance (UV) were 35°, 40°, and 12 mm, respectively. The wrist showed improvement, with an RI of 25°, VT of 14°, and UV of 0 mm. At present, 14 months after surgery, there has been no loss of correction, instability of the ulnar head, or pain on the ulnar side. The procedure resulted in improvements in the protrusion and pain in the ulnar portion of the patient's wrist. Based on this result, we believe that accurate corrective osteotomy with ulnar shortening should be performed for Madelung deformity.

Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome.

Sensorineural hearing loss (SNHL) occurs in more than 80% of cases of Johanson Blizzard Syndrome (JBS). However, limited knowledge exists in medical literature of cochlear implantation (CI) outcomes in children with JBS. We report the case of a 5 year-old male with JBS and bilateral CI. While minimal progress in spoken language scores was noted after 4 years of bilateral CI use, substantial improvements in discrimination of speech sounds and audibility of spoken language and environmental sounds were documented. Cochlear implantation is an available treatment option of profound SNHL in children with JBS even if spoken language outcomes are marginal.

Surgical Treatment of a Rare "Reverse" Madelung Deformity in 11 Years Female Patient.

Madelung deformity is an abnormality of the distal part of the forearm due to a growth arrest in the distal radial physis creating an increase of the radial tilt angle associated with a dorsal subluxation of the distal ulna in most cases. It is a rare condition which represents only 1.7% of hand deformities being characterized by the presence of an abnormal structure, Vickers ligament, that tethers the distal radius to the lunate bone. Although it is believed to be a congenital disorder, the symptoms are absent till late childhood. We present a case of a 11 years old girl patient, who came to our clinic for deformity of both forearms, which consisted of an anteriorly curved radius, volar proeminence of the distal ulna, partial limitation of supination and pain in the last 6 months, with and insidious onsed and aggravated lately. The mother of the patient, at the age of 13, was diagnosed with the same deformity which was surgically treated at that time. Furthermore, the patient has an older sister with no deformity of the forearms. X-rays revealed an increased radial tilt and anterior luxation of the distal ulna. Considering the deformity and the presence of pain we decided to excise the Vickers ligament and make an opening and derotation wedge osteotomy of the distal radius.

Limits of Growth Modulation Using Tension Band Plates in the Lower Extremities.

Growth modulation using tension band plates (TBP) has been shown to be a safe, effective, and popular method for correcting pediatric frontal plane angular deformity around the knee. Recently, TBPs have been used to achieve reversible epiphysiodesis to treat limb-length discrepancy. Many surgeons have expanded the indications to include diagnoses other than frontal plane angular deformities, anatomic sites other than the knee, and correction of sagittal and oblique plane deformities. Despite the rapid acceptance of TBPs, the limits of this option have not been explored. We undertook a systematic literature review and found that the success rate for idiopathic cases approaches 100% with a low complication rate. Pathologic cases have a slightly lower success rate and a higher complication rate. The potential to avoid osteotomy with growth modulation makes TBPs a reasonable option for all but the most extreme pediatric frontal and sagittal plane lower extremity deformities. Applications to hip deformities remain unproven.

Sutureless Lamellar Corneoscleral Patch Graft With Fibrin Sealant for Limbal Dermoid Removal.

A 2-year-old boy with Goldenhar syndrome had a limbal dermoid removed and covered with a lamellar corneoscleral patch graft that was attached with fibrin glue and no sutures. The graft healed and attached well. A sutureless technique is beneficial due to decreased scarring and chance of infection.

EED-associated overgrowth in a second male patient.

Following our discovery that constitutional mutations in EED can cause overgrowth, we screened our cohort of patients with Weaver-like features for mutations in this gene. Here we describe a second patient with a different, rare and de novo mutation in EED. Phenotypic overlap with our first case of EED-associated overgrowth is significant. Now that we have found two unrelated families of different ethnicities, with a similar rare phenotype, both associated with de novo mutations in this member of the PRC2 complex, we are confident that EED is indeed a novel overgrowth gene.