Pedicled Osteo-Onchyocutaneous Island Flap for Finger Macrodactyly: A Review of Literature.

We present a case of middle finger macrodactyly reconstructed in a single stage using multiple techniques. We elevated a pedicled osteo-onychocutaneous island flap, excised the remnant distal phalanx with a segment of 1 digital nerve and skin over the dorsum of the middle phalanx, performed epiphysiodesis and reduction of the middle phalanx as well as soft-tissue debulking, and inset the flap over the dorsum of the middle phalanx. Follow-up at 12 months revealed a satisfactory aesthetic and functional outcome.

Foot Macrodactyly Associated with Klippel-Trenaunay Syndrome.

Klippel-Trenaunay syndrome is a rare congenital malformation which may be associated with macrodactyly. The main problem is the need for custom-made shoes. We describe the case of a female newborn affected by Klippel-Trenaunay syndrome, with a larger and longer right foot; the difference increased progressively and, at 5 years of age, the right foot was 50% larger and 38% longer than the left one. Due to the progression of the deformity, reduction surgery was advised to reduce the foot's width. Resection of the second ray and 2nd cuneiform was performed. The result was excellent and there were no complications during a 10-year follow-up period with a decrease of width and length difference to 10% and 4%, respectively, in comparison to the contralateral foot. There were no gait anomalies. Abnormal foot width and length represented the main problems and guided the surgical strategy. Second ray resection was effective, without complications and with a good long-term functional outcome. Possibility of wearing fashionable conventional shoes without insoles was achieved to the patient's satisfaction.

Inflammatory Myofibroblastic Tumor Presenting as Gross Hematuria in a Pediatric Patient With VACTERL Syndrome Following Bladder Augmentation.

Inflammatory myofibroblastic tumors (IMT) are rare and poorly understood inflammatory neoplasms. Most commonly occurring in the liver and gastrointestinal tract, cases of bladder involvement have been rarely reported. Bladder IMT generally presents with gross hematuria and can be differentiated from other bladder tumors by expression of anaplastic lymphoma kinase. We report the occurrence of an Bladder IMT detected following lower urinary tract reconstruction with bladder augmentation.

Shortening Scarf Osteotomy for Macrodactyly and Valgus of the Hallux in Acrodysostosis Lesser Toes Brachydactyly.

LEVELS OF EVIDENCE: Level V: Case report.

The impact of limb loading and the measurement modality (2D versus 3D) on the measurement of the limb loading dependent lower extremity parameters.

BACKGROUND: Deformity assessment and preoperative planning of realignment surgery are conventionally based on weight-bearing (WB) radiographs. However, newer technologies such as three-dimensional (3D) preoperative planning and surgical navigation with patient-specific instruments (PSI) rely on non-weight bearing (NWB) computed tomography (CT) data. Additionally, differences between conventional two-dimensional (2D) and 3D measurements are known. The goal of the present study was to systematically analyse the influence of WB and the measurement modality (2D versus 3D) on common WB-dependent measurements used for deformity assessment. METHODS: 85 lower limbs could be included. Two readers measured the hip-knee-ankle angle (HKA) and the joint line convergence angle (JLCA) in 2D WB and 2D NWB radiographs, as well as in CT-reconstructed 3D models using an already established 3D measurement method for HKA, and a newly developed 3D measurement method for JLCA, respectively. Interrater and intermodality reliability was assessed. RESULTS: Significant differences between WB and NWB measurements were found for HKA (p < 0.001) and JLCA (p < 0.001). No significant difference could be observed between 2D HKA NWB and 3D HKA (p = 0.09). The difference between 2D JLCA NWB and 3D JLCA was significant (p < 0.001). The intraclass correlation coefficient (ICC) for the interrater agreement was almost perfect for all HKA and 3D JLCA measurements and substantial for 2D JLCA WB and 2D JLCA NWB. ICC for the intermodality agreement was almost perfect between 2D HKA WB and 2D HKA NWB as well as between 2D HKA NWB and 3D HKA, whereas it was moderate between 2D JLCA WB and 2D JLCA NWB and between 2D JLCA NWB and 3D JLCA. CONCLUSION: Limb loading results in significant differences for both HKA and JLCA measurements. Furthermore, 2D projections were found to be insufficient to represent 3D joint anatomy in complex cases. With an increasing number of surgical approaches based on NWB CT-reconstructed models, research should focus on the development of 3D planning methods that consider the effects of WB on leg alignment.

Rare Extracardiac Anomalies Presented with Right Heterotaxy Syndrome in a Newborn Baby: A Case Report.

BACKGROUND Heterotaxy is a syndrome of abnormal arrangement of the internal thoracic-abdominal structures across the left-right axis of the body. It is a primary disorder with 2 main settings - bilateral left sidedness (polysplenia syndrome) or right sidedness (asplenia syndrome) - although some overlapping or uncertainties may occur. Patients with right heterotaxy typically present with asplenia, complex heart disease, and other thoracoabdominal organ situs abnormalities. CASE REPORT We present a unique case of congenital asplenia syndrome with complex heart disease, annular pancreas, and other extra-heterotaxic anomalies (e.g., musculoskeletal) in the form of a radius aplasia and partial syndactyly of the thumb and index finger of the left hand. These associated anomalies have not been reported before. CONCLUSIONS This case shows the need for paying increased attention to the implications of other extracardiac anomalies that can be associated with heterotaxy syndrome.

[Surgical Treatment of Congenital Cleft Foot - Case Study and Literature Review]. / Operacní lécení vrozeného rozstepu nohy ­ kazuistika a prehled literatury.

Congenital cleft foot is a deformity characterised by genetic heterogeneity and a high degree of phenotypic variability. This together with its very low incidence is the reason for rather controversial opinions on the treatment. The authors present a case study of a boy with unilateral cleft foot classified as type III by Blauth-Borisch and type II by Abraham et al., who underwent a surgery at the age of 12 months. The defect was closed by rectangular soft tissue flaps, the intermetatarsal ligament connecting the first metatarsal head and the third metatarsal head was reconstructed with local fibrous tissue flap. The present hypermobility with extension position of the first ray were stabilised by the Kirschner wire inserted along the axis of the first ray from the dorsum of the talus through the middle of its head to the medial chondrogenic tarsal bones and further through the first metatarsal bone and the corrected metatarsophalangeal joint of the hallux. At the age of 6 years and 7 months, due to dynamic abductovalgus foot deformity, lengthening calcaneal osteotomy was also performed. Favourable clinical and radiographic outcomes of the used surgical technique were observed by the authors. The cleft foot as such shall be treated after a thorough evaluation of the patient and his/her necessary monitoring during the childhood. Key words: ectrodactyly, cleft foot, split hand/foot malformation.

Surgical Ectrodactyly Repair Using Limb-lengthening and Bone Tissue Engineering Techniques in a Toy Dog Breed.

BACKGROUND/AIM: Bone tissue engineering is an emerging field of regenerative medicine that holds promise for the restoration of bones affected by trauma, neoplastic diseases, and congenital deformity. During the past decade, bone tissue engineering has evolved from the use of biomaterials that can only replace small areas of damaged bone, to the use of scaffolds in which grafts can be seeded before implantation. This case report proposes an alternative option for a veterinary patient suffering from ectrodactyly, which is one of several congenital deformities in dogs. A 2-month-old male toy poodle dog with ectrodactyly was treated using several stages of surgery involving pancarpal arthrodesis, limb lengthening, and bone tissue engineering techniques. RESULTS AND CONCLUSION: Over a period of 2 years, the operated limb gained almost the same function as the contralateral limb. Bone tissue engineering techniques can be used for the treatment of congenital deformities in dogs.

Surgery and Conservative Management of Camptodactyly in Pediatric Patients: A Systematic Review.

Camptodactyly is a pediatric hand condition, the treatment of which remains controversial. The authors' aim was to improve patient care through clarifying the definition of camptodactyly and indications for surgical and/or conservative management, summarizing outcomes, and defining risks. A systematic review was conducted of articles in all languages on outcomes following surgical and/or conservative management of idiopathic camptodactyly in children using MEDLINE (Medical Literature Analysis and Retrieval System Online), PubMed, EMBASE (Excerpta Medica database), AMED (Allied and Complementary Medicine), and CINAHL (Cumulative Index of Nursing and Allied Health Literature) (until January 2017). The primary outcome was posttreatment flexion contracture, and the secondary outcomes were indications for surgery, complications, and patient satisfaction. Database searching generated 16 final articles, with 7 case series and 9 retrospective cohort studies. There was a lack of consistency on the definition of camptodactyly and in outcome reporting. All 16 studies received a "Weak" global rating and demonstrated low-quality evidence, suggesting that treatment of camptodactyly with operative or nonoperative measures reduces the degree of flexion contracture in most patients (from pretreatment averages of 20°-85° to posttreatment averages of 5°-37°). There was general agreement that surgery should be reserved for contracture >30° or failure to respond to conservative management. Surgery generally led to more complications compared with conservative management. Only one study reported on functional limitations, and another reported on patient-reported outcomes. Current evidence of the effectiveness of camptodactyly treatment in addressing both joint-specific deformity and patient-perceived function and appearance is insufficient to guide patient care. Future research may consider the development of decision aids to guide patients and families through selecting management strategies and to promote shared decision making.

Being the parent of a child with limb difference who has been provided with an artificial limb: an interpretative phenomenological analysis.

Purpose: Rehabilitative care for children with limb difference often includes the provision and use of an artificial (or prosthetic) limb. Of key influence in this process is how parents experience and respond to their child's limb difference and prosthesis use. However, research on this is lacking. Therefore, this study aimed to explore the experiences of parenting a child with limb difference who had been provided with an artificial limb.Design: Semi-structured interviews took place with seven parents. Interview data was recorded, transcribed and analyzed using interpretative phenomenological analysis.Results: The analysis identified four themes: (1) managing the initial emotional experience through the development of coping resources; (2) opportunities through prosthesis use and its relationship with "normality"; (3) managing and making sense of social reactions toward their child; (4) the intrinsic role of support: developing a collective connection and enabling shared knowledge.Conclusions: The study highlighted salient aspects to parents' experiences and sense-making that can inform clinical support. Emotional support, the management of social responses, and the holistic co-ordination of healthcare support with peer support networks are discussed. Healthcare professionals involved in the prosthetic rehabilitation process should look to explore these meanings to help support the management of the child's prosthesis use.Implications for rehabilitationUnderstanding the sense-making of parents is important in effective service provision for children with limb difference.Service provision for children with limb difference should consider the support needs of parents.Working with limb difference charities and voluntary organizations could help services develop needed parent-to-parent support networks.

Precise Resection of Macrodactyly Under Assistance of Three-Dimensional Reconstruction Technology: A Case Report.

Macrodactyly of the foot is an extremely rare congenital malformation characterized by an increase in the size of all the elements or structures of a digit or digits. Most sources indicate that macrodactyly affects the hand more often than the foot. This rare medical condition usually requires surgical intervention with a precise preoperative plan and postoperative rehabilitation. We present a case of macrodactyly of the right foot in which surgical reduction of the foot under assistance of 3-dimensional image technology was performed with satisfying cosmetic and functional outcomes.

[Surgical treatment of limb deformity and disability: a statistical analysis of 35 075 cases from QIN Sihe orthopaedic team between May 25, 1978 and December 31, 2018].

OBJECTIVE: To investigate the characteristics and corrective strategies of various limb deformities treated by QIN Sihe orthopaedic team in the past 40 years, so as to provide a large sample for understanding the causes, types, and treatment methods of limb deformity and disability in China. METHODS: A clinical data of 35 075 cases who were treated by QIN Sihe orthopaedic team between May 1978 and December 2018 was summarized. The age, gender, deformity characteristics, etiological and pathological composition, regional distribution, and surgical methods of the patients were analyzed. RESULTS: There were 20 458 males (58.33%) and 14 617 females (41.67%). The age ranged from 1 to 82 years (mean, 20.5 years). The majority people (19 363 cases, 55.20%) were 11-25 years old. Of which, 33 259 cases (94.82%) were operated on lower extremity. The geographical distribution of patients covered 33 regions in China and 12 foreign countries. There were 202 etiologies involved neurological, heredity, metabolism, traumatic sequelae, congenital, vascular, lymphoid, skin, endocrine, iatrogenic, and so on. The disease covered all subsubjects of orthopaedics. The top six deformities secondary to poliomyelitis sequelae, cerebral palsy, traumatic sequelae, spondylolysis sequelae, genu varum and genu valgum, and congenital talipes equinovarus. There were 280 kinds of surgical methods, the majority of which were Achilles tendon lengthening, supracondylar osteotomy, subtalar joint arthrodesis, tibiofibular osteotomy, metatarsal aponeurosis, and Achilles tendon replacement of peroneal longus muscle, etc. Orthopaedic surgery combined with external fixation were applied in 8 702 cases, including Ilizarov fixator in 3 696 cases and Hybrid fixator in 5 006 cases. CONCLUSION: QIN Sihe orthopaedic database with 40 years is the largest one of limb deformity and disability in China. It reflects the etiology, type, population characteristics, surgical methods and strategy of limb disability and deformity which can be treated by orthopaedic surgery. The data needs to be further excavated and deeply studied in future because of its important academic value and historical significance.

Three-dimensional computer-assisted corrective osteotomy with a patient-specific surgical guide for an antebrachial limb deformity in two dogs.

INTRODUCTION: We describe patient-specific surgical guide prototyping and surgical treatment of a complex antebrachial deformity in two skeletally mature dogs presented with chronic lameness. Computer-assisted surgery was elected to increase accuracy in the correction of the complex deformity. Radiographs and computed tomography (CT) scans revealed a biplane deformity with valgus, procurvatum and external torsion of the right radius in both cases. The pre-surgical planning started from the quantification of the angular deformity, followed by computer simulated correction and to end up with a rehearsal surgery on 3D printed bone models. During the surgery, the custom-made osteotomy guides closely fitted the bone, allowing for a precise corrective osteotomy, that was stabilized with two locking plates. Postoperative radiographs showed the successful correction of the deformity. Eight and 12 weeks postoperative follow up examinations showed improved lameness, weight-bearing and progression of bone healing in both dogs. Patient-specific surgical guides allowed for a satisfactory correction of the antebrachial deformity. Additional benefits of using customized surgical devices include standardization and reduced surgical time.

INTRODUCTION: Nous décrivons le prototypage d'une procédure chirurgicale spécifique au patient et le traitement chirurgical d'une déformation antébrachiale complexe chez deux chiens ayant atteint leur maturité squelettique et présentant une boiterie chronique. La chirurgie assistée par ordinateur a été choisie pour accroître la précision de la correction de la déformation complexe. Les radiographies et la tomodensitométrie (TDM) ont révélé une déformation dans deux plans avec valgus, procurvatum et torsion externe du radius droit dans les deux cas. La planification préopératoire a commencé par la quantification de la déformation angulaire, suivie par une correction simulée sur ordinateur et a abouti à une opération de répétition sur des modèles d'os imprimés en 3D. Pendant l'intervention, des guides d'ostéotomie sur mesure ont ajusté l'os de manière exacte, permettant ainsi une ostéotomie correctrice précise, stabilisée avec deux plaques de verrouillage. Les radiographies postopératoires ont montré la réussite de le correction de la déformation. Les examens de suivi postopératoires effectués à huit et douze semaines ont montré une amélioration de la boiterie et de la mise en charge ainsi que la progression de la cicatrisation des os chez les deux chiens. Les guides chirurgicaux spécifiques au patient ont ­permis une correction satisfaisante de la déformation antébrachiale. L'utilisation de matériel chirurgical personnalisé comporte d'autres avantages, tels que la standardisation et la réduction du temps de l'intervention chirurgicale.

Unicornuate uterus with a rudimentary non-communicating cavitary horn in association with VACTERL association: case report.

BACKGROUND: The unicornuate uterus is caused by abnormal or failed development of one Müllerian duct. Unicornuate uteri with functioning non-communicating rudimentary horns are susceptible to many gynaecologic and obstetric complications such as hematometra, endometriosis and ectopic pregnancy and thus surgical resection is usually recommended.. CASE PRESENTATION: We report a rare case of a unicornuate right uterus with rudimentary non-communicating (functional) cavitary left horn (class U4a) in a 17-year-old girl who was diagnosed with VACTERL association. She was presented to our centre with 3 years history of secondary sever dysmenorrhea. Pelvic magnetic resonance imaging revealed a normal uterus on the right side, a 7 × 8 cm left endometrioma, a tortuous dilated fluid-filled structure in the left hemipelvis, mostly represented left-sided hematosalpinx, and a well-defined lesion with thick enhancing wall in the left hemipelvis measuring 6.7 × 5.7 × 5.6 cm with a similar enhancement to the uterus in the right. She underwent laparotomy that showed a right unicornuate uterus with a normal cervix and a rudimentary non-communicating distended left horn. In addition, there was a left endometrioma and left hematosalpinx. Resection of the left communicating horn, left salpingectomy and left ovarian cystectomy were performed. The right tube and both ovaries were preserved. At 9-months follow up, the patient had a regular period and the pain subsided completely. CONCLUSION: We report yet the second case of VACTERL association and unicornuate uterus with non-communicating functional rudimentary horn, in hope of expanding the knowledge of a rare occurrence. This case also highlights the importance of considering the diagnosis of Müllerian duct anomalies in patients with a history of other anomalies, and/or history of early-age secondary dysmenorrhea.

Limb lengthening and deformity correction in children with abnormal bone.

Flexible intramedullary nailing (FIN) provides multiple advantages in limb lengthening and progressive deformity correction in combination with external fixation. The article presents brief literature review and authors' experience in limb lengthening of abnormal bone (Ollier's disease, fibrous dysplasia, osteogenesis imperfecta). Titanium and, especially, hydroxyapatite-coated bent elastic nails in combination with external fixator are appropriate in limb lengthening of abnormal bone in children. FIN left in situ after lengthening procedure and external frame removal should be applied for long-term reinforcement of lengthened bone in patients with abnormal bone (metabolic bone disorders, skeletal dysplasias with compromised bone tissue development). The FIN respects bone biology, which is mandatory for good bone consolidation. Osteoactive properties of intramedullary elastic implants are favorable for bone formation and as well as for stable position of nails without risks of migration in long-term follow-up.

Polymelia in a chimeric Simmental calf: nociceptive withdrawal reflex, anaesthetic and analgesic management, anatomic and genetic analysis.

BACKGROUND: Polymelia is a congenital defect characterized by one or more supernumerary legs. The genetics and aetiology of this condition in cattle have not yet been thoroughly investigated even though several case reports do exist. The model of the nociceptive withdrawal reflex (NWR) has been characterized in several species to study spinal nociceptive processing. It is a polysynaptic spinal reflex that can be elicited by noxious electrical stimulation and recorded by electromyography. Thorough nociceptive examination and preventive analgesic management has not yet been an aspect in the perioperative management of polymelia cases. CASE PRESENTATION: A 4-month-old female Simmental calf was presented with notomelia. The animal was in good health and showed no neurologic deficiencies. Preoperatively, computed tomography was performed to gain more detailed anatomical information. To evaluate the sensitivity of the accessory limb, NWR testing was performed and revealed a connection of the afferent reflex pathway of the accessory limb to the efferent of the normal limb. The accessory limb was surgically removed under general anaesthesia. Intensive care included multimodal pain therapy adapted to the pain intensity scored during regular pain assessment. A gross anatomical dissection as well as a genetic analysis of the accessory limb were performed postoperatively. The calf was identified as a chimera. CONCLUSION: This calf was successfully relieved of its accessory limb. Chimerism has not been described in the congenital defect polymelia. As the accessory limb was pain sensitive and a common nociceptive reflex pathway was identified, thorough perioperative pain management was performed with the intention to prevent chronic neuropathic pain development.

Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective.

Osteogenesis imperfecta is a genetically and phenotypically heterogeneous disorder related to a defect or deficiency in the production of type I collagen. It is characterized by brittle bones, fractures, spine and extremity deformity, and a host of extraskeletal manifestations. Type I collagen is present in bone, tendons, ligaments, skin, dentin, and the sclera of the eye and other connective tissues. Osteogenesis imperfecta includes a multitude of disease manifestations that may be present at birth or develop over time and vary depending on the severity of the disease. This article describes the disease presentation and management considerations from a pediatric orthopedic perspective.

Outcomes of kidney transplants in pediatric patients with the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities association.

In this single-center retrospective study, we analyzed kidney transplant outcomes in nine pediatric patients with VACTERL [vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities] association-making this the largest study of its kind. Of 743 pediatric kidney transplant recipients at our center (1980-2017), nine had documented diagnoses of VACTERL association. All nine had congenital anorectal malformations and renal anomalies, five had vertebral defects, and one had a bifid thumb and tracheoesophageal fistula. Renal anomalies included dysplasia (n = 6), aplasia (n = 3), and horseshoe kidney (n = 2). Congenital lower urinary tract anomalies included neurogenic bladder (n = 6), obstructive uropathy (n = 4), anovesicular fistula (n = 1), rectourethral fistula (n = 1), and posterior urethral valves (n = 1). Age at transplant ranged from 1.2 to 15 years (mean, 7.3; standard deviation [SD], 5.5); 6 (67%) were male, and 3 (33%) were female; 6 (67%) had a living related donor, and 3 (33%) had a deceased donor. The overall graft survival rate was 78% (range, 1.5 to 25.2 years; mean, 10.5; SD, 8.9). One month post-transplant, one recipient died with a functioning graft. At 3.7 years post-transplant, one graft failed because of recurrent pyelonephritis. Post-transplant urologic complications included pyelonephritis (n = 6), vesicoureteral reflux (n = 5), and graft hydronephrosis (n = 4). We conclude that pediatric patients with VACTERL association can be safely transplanted-careful patient selection with vigilance and intervention for pre- and post-transplant urologic complications is essential.

Freeman-Burian syndrome.

CLINICAL DESCRIPTION: Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus. Neuro-cognitive function is not impaired. EPIDEMIOLOGY: Population prevalence of FBS is unknown. AETIOLOGY: Environmental and parental factors are not implicated in pathogenesis. Allelic variations in embryonic myosin heavy chain gene are associated with FBS. White fibrous tissue within histologically normal muscle fibres and complete replacement of muscle by fibrous tissue, which behaves like tendinous tissue, are observed. MANAGEMENT: Optimal care seems best achieved through a combination of early craniofacial reconstructive surgery and intensive physiotherapy for most other problems. Much of the therapeutic focus is on the areas of fibrous tissue replacement, which are either operatively released or gradually stretched with physiotherapy to reduce contractures. Operative procedures and techniques that do not account for the unique problems of the muscle and fibrous tissue replacement have poor clinical and functional outcomes. Important implications exist to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well.

Generic Health-Related Quality of Life after Repair of Esophageal Atresia and Its Determinants within a German-Swedish Cohort.

AIM: Despite advances of outcomes of esophageal atresia (EA), knowledge on patients' health-related quality of life (HRQoL) is sparse. Due to the heterogeneity of EA, larger cohorts need to be investigated to ensure reliability of data. Aim was to determine generic HRQoL after EA repair in a Swedish-German cohort. PATIENTS AND METHODS: Ethical approval was obtained. A total of 192 patients (2-18 years; 134 Swedish; 58 German) were included. Clinical data were reviewed. EA was classified in "severe" and "mild/moderate." Pediatric Quality of Life Inventory 4.0 Generic Core Scale (PedsQL 4.0) was used in appropriate versions (2-7 years; 8-18 years; self- [SR] and proxy report [PR]) to determine generic HRQoL. RESULTS: Swedish and German samples were clinically and demographically comparable. HRQoL was lower in "severe EA" versus "mild/moderate" (2-18 years; total score; PR 85.6 vs. 73.6; p < 0.001) and Gross A versus Gross C type EA (2-7 years; total score; PR 61.0 vs. 79.3; p = 0.035). Total HRQoL was higher in the Swedish versus German sample (2-18 years; total score; PR 82.3 vs. 72.7; p = 0.002). HRQoL was impaired in the German sample versus healthy population (2-18 years; total score; PR 72.7 vs. 82.7; p = 0.001). In German patients (8-18 years), HRQoL was higher in SR versus PR (80.7 vs. 74.7; p = 0.044). Patients' age and presence of VACTERL association or isolated anorectal malformations did not affect HRQoL. Various differences were detected regarding different dimensions of PedsQL 4.0. CONCLUSION: In this first international study, we found several differences in perception of generic HRQoL. HRQoL appears to be determined by the type of EA and severity rather than patients' age or the presence of typical associated malformations. Country-specific differences may be culturally dependent, but further investigations are suggested. A condition-specific instrument validated for EA may provide additional insights.