Search

Orchidopexy for undescended testis is recommended at a younger age than heretofore; our study aimed to assess delays, and their causes, by retrospective analysis of data from a single tertiary care centre over one year (2015–2016). Almost 80% of children were brought after 1 year of age, mostly because of delayed referral by primary physicians (60%), or missed diagnosis by parents or primary physicians (20%). Misconception about the risk of surgery below 1 year was significant (15%). A timely referral is encouraged.

Anorectal malformations (ARM) in females are identified by abnormal location of the anal opening. Management is guided by clinical examination to find the number of perineal openings. Two openings in the perineum of a female may be seen in cases of imperforate anus without fistula, vaginal agenesis with vestibular fistula or imperforate anus with recto-vaginal fistula (RVF). We present a case series of ARM with RVF and discuss their diagnosis and management.

Abdominal cocoon syndrome or idiopathic Sclerosing Encapsulating Peritonitis (SEP) is an extremely uncommon cause of intestinal obstruction. Its etiology is explainable through numerous theories. An eleven-year-old girl referred to the pediatric surgery OPD with complaints of abdominal pain for the past two weeks and vomiting for two days. Her family history for tuberculosis was positive. On examination, the abdomen was distended and slightly firm on palpation. The X-ray of her abdomen revealed multiple air-fluid levels. The CECT of the abdomen indicated dilated abdomen, duodenum, and proximal bowel loops. Some trapped inter bowel free fluid was also observed. The clinical presentation of subacute intestinal obstruction and the radiological features suggested a differential diagnosis of tubercular peritonitis versus pseudomyxoma peritonei. The obstructive symptoms demonstrated that the patient underwent an explorative laparotomy. Preoperatively, a thin membranous sac was identified enclosing multiple dilated small bowel loops. The sac was released by blunt dissection and part of the sac was provided for histopathological examination. Based on clinical, histopathological, and radiological findings, a diagnosis of abdominal cocoon syndrome was determined. The postoperative follow-up period of 6 months was uneventful. We presented a rare case of primary sclerosing encapsulating peritonitis, also reported as abdominal cocoon syndrome. It is among the rare potentially devastating causes of intestinal obstruction in children. A very high index of suspicion is imperative to arrive at its pre-operative diagnosis alone by clinical and radiological findings.

Introduction Fibroblastic/myofibroblastic tumors constitute 12% of all pediatric soft tissue tumors with the majority of them belonging to the benign and intermediate prognostic categories. They are often misdiagnosed owing to their variable clinical presentation and unusual microscopic features. The diagnosis, specially cytological diagnosis of benign and intermediate categories is difficult due to paucity of cellular component and increased amount of extracellular matrix as compared to malignant ones. We hereby discuss the Fine needle aspiration cytology (FNAC) findings of non-malignant fibroblastic/myofibroblastic lesion in the pediatric age group encountered at our institute. Methods All the benign and intermediate fibroblastic/myofibroblastic/fibroadipocytic lesions (age 0-12 years) diagnosed on FNAC over a period of 3½ years (Jan 2016- July 2019), with availability of corresponding histopathology were included in the study. Results A total of seven pediatric benign and intermediate fibroblastic/myofibroblastic lesions with histopathological confirmation were identified which included Infantile digital fibromatosis (IDF) (n = 2), Lipofibromatosis (n = 1), Fibrous hamartoma of infancy (FHI) (n = 1), Fibromatosis colli (FC) (n = 2) and myofibroma/myofibromatosis (n = 1). FNAC smears were mainly paucicellular with presence of benign spindle shaped cells in a collagenous stroma common to almost all the cases. A few additional findings such as degenerated skeletal muscle fibres, muscle giant cells and mature adipose tissue were also present in some cases. Conclusion Fibroblastic/myofibroblastic tumors although uncommon, form an important category that must be considered in the differential diagnosis of pediatric soft tissue tumors. FNAC cytology features when assessed in a proper clinical setting (specially the age and site of presentation) are helpful in suggesting probable preoperative diagnosis in these lesions.

Background: Esophageal atresia (EA) with distal trachea-esophageal fistula (TEF), the most common variety of EA, is managed by primary end-to-end anastomosis. Recurrent TEF constitutes the most difficult-to-manage complication of the primary repair and has an incidence of 2% to15%. Case Presentation: We present a case of rare recurrent TEF after primary repair of EA. The difficulties faced in view of the COVID pandemic and difficult diagnosis are discussed. We share our experience in the successful management of acquired TEF and lessons learned. Conclusion: Recurrent trachea-esophageal fistula is one of the rare and challenging complications to manage. The surgical option carries the best overall prognosis.

Background: Mucormycosis is a devastating opportunistic fungal infection resulting in significant mortality, especially in pediatric patients with predisposing risk factors. Materials & Methods: Biopsies and surgical specimens reported and proven as Mucormycosis in children under 12 years of age were retrieved from the records for three years (January 2018 to January 2021). Complete data, predisposing factors, treatment, and clinical outcome were recorded. Results: 15 cases were identified, ranging from 9 days to 5 years. The male-female ratio was 3:1; three children were preterm. Fourteen children were diagnosed with gastrointestinal Mucormycosis (14/15), and one had palatal and sinusoidal involvement. Abdominal pain with distention was the most typical complaint. On microscopy, biopsies and surgical specimens showed extensive liquefactive necrosis with broad aseptate fungal hyphae. An intraoperative diagnosis was rendered in two cases. All neonates underwent exploratory laparotomy with surgical debridement and were administered Liposomal Amphotericin B. However, only two neonates survived out of the fifteen cases, one with disease limited to the appendix and pouch colon. The others succumbed to the disease despite antifungal therapy and surgical debridement. Thus, the overall mortality in the current study was calculated to be 86%, with neonatal mortality of 75%. Conclusion: Gastrointestinal involvement is more common in neonates and infants with a male preponderance. The diagnosis relies on direct microscopy, histopathology, and fungal culture. Intraoperative tissue may be sent in all suspected cases for direct microscopic examination for rapid diagnosis and treatment.

We present three unusual cases of atypical scrotal lesions in children. The first was a firm left scrotal mass with the testis indistinguishable. The second with apparently a large hydrocoele, which was a cyst, and the third with multiple nodular lesions, pushing the left testis into the right hemiscrotum. These turned out to be a pigmented neuroectodermal tumour, a lymphatic malformation and neurofibromas respectively. Paediatric surgeons should be aware of such surgical surprises.

Aims: The recto-urethral (RUF) and recto-vestibular fistula (RVF) are varieties of anorectal malformation (ARM) with distinct clinical behaviour. In this study post-operative clinico-manometric comparison has been done. Materials and Methods: The study was conducted for 2 year period and included post-operative cases of RUF and RVF. Post-operative follow up was done clinically and by anal manometry. Statistical analysis used: Kruskal Wallis test, Mann Whitney U test, and Spearman correlation test were done to find out the statistical significance. Results: A total of 21 patients with RUF and RVF were included. The average basal and squeeze pressure of RVF group was (cm H2O) 34.66 13.2 and 89.35 30.8 respectively. These pressures were higher than those of RUF which were 26.74 12.8 and 71.20 42.8 respectively. Rectoanal inhibitory reflex (RAIR) was present in 84.6% cases of RVF in comparison to 62.5% in RUF group. The mean combined (RUF + RVF) basal pressure in RAIR positive group was 32.97 12.2 compared to 24.5 4.6 cm H2O in RAIR negative group. The mean combined squeeze pressure in RAIR positive group was 84.34 36.2 compared to 68.83 32.75 cm H2O in RAIR negative group. Conclusions: The anal pressures of RVF group were higher than RUF group. Anal pressures also higher in RAIR positive group than the RAIR negative group. Anal pressures and RAIR status may have some role in post-operative outcome in cases of ARM. Keywords: Anorectal malformation, Anal manometry, RAIR in anorectal malformation, Recto-urethral fistula, Vestibular fistula.

Prostatic utricles (PUs) are the remnants of Mullerian ducts found in the male posterior urethra. Enlarged symptomatic utricles are known to be associated with hypospadias. There is a dearth of literature defining an enlarged utricle and also its clinical significance.The aim of this study was to describe anatomical difference of PUs of cases with severe hypospadias and also to find their clinical significance if any.A prospective study was carried out, and all patients with proximal hypospadias were enrolled. Cystoscopy was performed in all cases. Symptomatology, size, and location of PU were recorded. PU of0.5 cm was considered enlarged.In the present series, a total of 70 cases were included over a period of 2 years. Enlarged utricle was found in 47/70 (67.14%) on cystoscopy. They were wide-mouthed and negotiated 9 Fr/11 Fr cystoscope with ease. Recurrent epididymo-orchitis, recurrent urinary tract infection, and obstructive features were the most common complications requiring intervention.PUs in boys with hypospadias are enlarged as well as wide-mouthed. Most of these remain asymptomatic, but few of them carry the potential of complications. Cystoscopy helps in direct visualization of utricular anatomy, so it should be a preferred investigating modality for investigating a PU.

Background: The anterior abdominal defects, especially gastroschisis and omphalocele have high mortality rates in developing countries. Time to intervene has been hypothesized to be associated with morbidity and mortality. The aim was to determine factors affecting mortality in neonates with anterior abdominal wall defects. Methods: This retrospective descriptive study was done at a tertiary pediatric care center. The medical records of patients with a diagnosis of anterior abdominal defects (omphalocele/gastroschisis/umbilical cord hernia) admitted at our center from Jan 2015 to Dec 2019 were retrieved. The demographic and clinical data were studied including age, sex, religion, gestational age, associated anomalies, electrolytes at admission, septic profile, operative details, length of hospital stay, and mortality. The statistical data was fed on a Microsoft Excel worksheet and analysis was done. Results: Thirty-nine (39) neonates were included in the study. M:F ratio was 2:1, with 61.5% belonging to the Hindu religion. The majority had term gestation (87.2%). Birth weight ranged from 1.5 to 4 kg (mean 2.47 + 0.5 kg). Eighteen (18) neonates had gastroschisis, 15 omphalocele major and 6 omphalocele minor, with a median age of presentation at 1 day of life. Time to intervention ranged from 0 to 5 days (interquartile range 1-1.25 days) after admission. Primary closure could be achieved in the majority (66.7%), while ventral hernia was created in 17.9% and the silo was needed in the rest. The mean postoperative length of stay was 9.31 days (+ 9.85 days) with a survival rate of 51.3%. The mortality rate in gastroschisis and omphaloceles were 61.1% and 38.1% respectively. The significant factors for survival were time to intervene, birth weight, and primary abdominal wall closure. Conclusions: The present study brings out a different clinical profile of anterior abdominal wall defect patients. We recommend early surgery soon after stabilization and primary abdominal wall repair whenever abdominal pressures permit.

Colorectal carcinoma (CRC) accounts for1% of all the neoplasms of children. Unfavorable histology and delayed diagnosis often result in poor outcome. This study aimed to investigate the clinical characteristic and prognosis of pediatric patients with CRC.A retrospective review of medical records of all patients diagnosed of CRC between 2015 and 2020 was performed. Data regarding gender, age, location, and histopathology were collected.Seven children (5 males and 2 females) were included in the study. Age ranged between 8.6 and 11.8 years. Abdominal pain was the most common symptom. The duration between onset of symptoms to the diagnosis ranged from 5 days to 8 months. Right-sided tumors were more common than the left side. Histopathological examination showed mucinous adenocarcinoma in four/seven patients and signet cell variant was seen in 2/7. Immunohistochemistry was positive for cytokeratin and beta-catenin, however, all microsatellite instability markers were found negative. Despite surgical treatment and chemotherapy, four of our cases faced mortality and one patient was lost to follow-up.CRC can present in first decade of life and often misdiagnosed. Pediatric CRC has distinct tumor biology and shares a poor prognosis. Paucity of literature from the Indian subcontinent should urge further clinicopathological trials for establishing etiology and for refining treatment recommendations in these children.

Following posterior urethral valve ablation, persisting bladder dysfunction can lead to lack of improvement or worsening of hydronephrosis and as well, to lack of improvement or even worsening renal function. On the other hand, managing bladder dysfunction offers the possibility of lessening both the degree of hydronephrosis and the level of serum creatinine. As we have no available urodynamics we feel impelled to find other means of diagnosing and managing abnormal bladder dynamics in these boys. We wanted to determine if a short course of continuous bladder drainage would be an effective means of lowering abnormal serum creatinine levels. Based on an assumption that most bladders following valve ablation, especially in those boys with a persistently elevated serum creatinine post valve ablation, have some form of dysfunction, we wanted to determine if a short course of continuous catheter drainage could improve these abnormal serum creatinine levels.The study was conducted over a 3year period and included all children up to 3 years of age who had higher age-appropriate nadir serum creatinine, 3 months post valve ablation. Patients were followed up at 1 week, 2 month and 3-month post valve ablation. On third follow-up visit patients with an elevated serum creatinine level were subjected to continuous bladder drainage (catheter test) for 5 days and serum creatinine level was recorded at the end of 5th day. Enforced bladder management which included dose titration of anti-muscaranic drugs and clean intermittent catheterization (CIC) with or without nocturnal catheter drainage (NOC) was instituted for next 3 months. Serum creatinine was determined at the end of the 3 month period and compared with prior values.A total of 21 patients were included in the study. The mean age of the children at the time of valve ablation was 6.97 ± 4.38 months. There was a significant fall in serum creatinine from 0.64 ± 0.12 mg/dl pre 5 days of drainage to 0.48 ± 0.10 at the end of the 5 day period (p = 0.024) along with a significant rise in GFR (p = 0.001). Following 3 months of enforced bladder management, there was a very mild rise in creatinine to 0.51, a normal age adjusted value.The study demonstrates the importance of early diagnosis of bladder dysfunction in boys with an elevated serum creatinine levels post valve ablation. Elevated nadir serum creatinine 3 months post ablation seems to be a useful indicator of possible bladder dysfunction; lowering of serum creatinine following a 5 day trial of continuous bladder drainage confirms this diagnosis. However, the lack of availability of urodynamic testing leaves the specific type of bladder dysfunction undiagnosed.Lowering of serum creatinine following a 5-day trial of continuous bladder drainage can be used as a rough indicator of existing bladder dysfunction in boys with a history of PUV and should be used in countries without urodynamic equipment as an indicator for at least a 3 month trial of enforced bladder management.

Background: Mortality in surgical neonates contributes to neonatal mortality rates. The study was conceptualized to study clinical and nonclinical factors affecting mortality in surgical neonates so that timely intervention could result in improved survival of the neonates. Materials and Methods: The study was initiated after approval from the institutional ethics committee and included 120 surgical neonates over a period of 18 months after obtaining consent from the parents/caregivers. Predesigned pro forma was used to record the details of antenatal care received, place of birth, travel history, maternal education and gestational age, and clinical condition at the time of admission. Values of biochemical tests such as serum electrolytes, serum creatinine, and arterial blood gasses were recorded. The need of inotrope support, blood or blood product transfusion, and postoperative ventilator support and intensive care unit (ICU) care was recorded. The results of the two groups, i.e., survivals and mortality, were compared. Outcome was recorded as mortality at 30 days or earlier. Results: Irrespective of the surgical condition, the survival rate was significantly better in those babies who weighed more than 2.5 kg at the time of admission, had capillary refill time of

Biliary atresia is an important cause of liver disease and morbidity in infants with unknown etiology. To date, only five cases of biliary atresia with hyaline cartilage at the porta hepatis have been described. We present the case of a 65-day-old male child, with further insight and detailed discussion of this heterotopia of undetermined significance. Keywords: biliary atresia, hyaline cartilage, liver disease

Introduction: Incidence of pediatric urolithiasis has increased over the last few decades. Procedures such as extracorporeal short wave lithotripsy, percutaneous nephrolithotripsy, and ureterorenoscopic lithotripsy are not widely available for pediatric age group in many developing countries. It is desirable that advantages of minimally invasive surgery be offered to selected cases with urolithiasis. Materials and Methods: All patients with pediatric upper tract urolithiasis managed laparoscopically from January 2015 to April 2020 were retrospectively reviewed. Results: A total of 38 patients were included. The mean age of the patients was 8 ± 2.85 years. Thirty-four patients (renal and upper ureteric) were managed through retroperitoneal approach, while those with lower ureteric calculi (n = 4) were approached transperitoneally. A total of eight patients required conversion to open technique. The stone clearance rate was 79% by laparoscopic approach alone. There were no procedure-related complications. Conclusion: Our study suggests that laparoscopic management for pediatric upper tract urolithiasis is a radiation-free, single-time curative treatment and is feasible in centers where facilities for other endoscopic procedures are unavailable.

Introduction The accurate histopathological diagnosis of the phimotic prepuce is indispensable because early diagnosis, treatment, and close follow-up are crucial in genital dermatosis such as lichen sclerosus (LS). This study analyzes the histopathological spectrum of childhood phimosis with special emphasis on LS. We also highlight a peculiar pattern of histopathological evolution in LS, prepuce. Material and methods The histopathology slides of all the pediatric preputial circumcision specimens performed for the indication of pathological phimosis (n = 43) during the study period (2012-2017) were analyzed. Eight histopathological features viz. hyperkeratosis, hypergranulosis, epidermal atrophy, acanthosis, dermoepidermal cleft, upper dermal edema and homogenization, mid dermal lymphocytic band, and interface dermatitis were studied in each case, separately in inner preputial surface, tip, and outer preputial surface. On the basis of evolution of the disease and histopathological features, the lesions of LS were classified into early, established, and advanced. Result LS was found in 32 cases, whereas 11 cases showed nonspecific inflammation and fibrosis. The upper dermal homogenization (n = 29), dermoepidermal cleft (n = 28), and mid dermal band (n = 27) were the commonest histopathological changes. The established and advanced changes were confined to the inner preputial surface (n = 31), and the outer preputial skin surface was unaffected in all the cases. A peculiar histopathological evolution pattern was seen with established or advanced lesions, early lesion, and normal histology on the inner preputial surface, mucocutaneous junction, and outer preputial skin, respectively. Conclusions LS is a common cause of childhood phimosis. It shows a peculiar histopathological evolution that mandates the thorough analysis of inner mucosal surface.

Purpose Pediatric spigelian hernias are very rare. They are often missed or misdiagnosed. A series of cases with spigelian hernia, presented to a tertiary care center are presented here with emphasis on different anatomy of spigelian hernias with cryptorchidism and those without associated cryptorchidism. Materials and Methods Over a period of seven years, nine cases of spigelian hernia presented to our tertiary care center. Male:female ratio was 3:1.There was a preponderance of right sided hernias. Three patients had associated cryptorchidism. One patient had associated lumbar hernia. All three patients with cryptorchidism had low spigelian hernia while others had classical spigelian hernia. Conclusion There is a likelihood of anatomical variation in SH associated with UDT and those without UDT. Understanding this anatomy may help in correct scrotal placement of testis. Type of Study Prospective Observational. Level of Evidence 4.

Background Supernumerary ovary (ie, ovarian ectopia having no anatomic connection with the normally placed ovaries) is a rare gynecologic condition. To the best of our knowledge, only 1 pediatric case of supernumerary ovary has been reported to date in the English literature. Case A 4-year-old girl was assessed for foul-smelling vestibular discharge and was found to have a fistulous tract with opening near the vaginal orifice. Fistuloscopy revealed hair in the lumen of the tract. Computed tomography scan showed a retroperitoneal mass in continuation of the tract. Excision of the mass revealed a mature teratoma in a retroperitoneal supernumerary ovary. Summary and Conclusion Supernumerary ovary, a gynecologic rarity, is even more uncommon in children. Hence, a thorough clinical-radiological-pathological correlation is mandatory to diagnose extragonadal ovarian tumors arising in supernumerary ovaries.

Spontaneous or idiopathic biliary perforations are an infrequently encountered but an important cause of surgical jaundice in paediatric patients and one of the most common causes of surgical jaundice in infancy. A pre-operative diagnosis with a clinical history and physical findings may not be possible in most of the cases. The exact cause of the perforation remains unclear and the diagnosis is made at the time of laparotomy for an acute abdomen. An early, efficient and an effective surgical management is associated with a good prognosis; however, a delay in the correct diagnosis or an inappropriate management may result in bacterial contamination of the biliary ascites, with an unfavourable outcome. The relative rarity of this condition is reflected by the very few case reports, limited case studies and scarcity of published literature.

Tubular colonic duplications are rare malformations and its association with prostatorectal fistula is extremely rare with only one case reported to date. We report the successful management of an 8 year old child with communicating tubular colonic duplication with prostatorectal fistulae. Tubular colonic duplications may be difficult to diagnose due to varied presentations, therefore a high degree of suspicion should be present while managing children with isolated congenital recto urinary fistulas.

Summary: Mucormycosis is an opportunistic, life-threatening fungal infection caused by fungi of the class Zygomycetes. The disease has traditionally been reported in immunocompromised patients, premature infants, diabetics, transplant recipients, prolonged use of corticosteroids or in condition associated with increased availability of serum iron such as acidosis or deferoxamine administration. The infection is progressive and associated with a high mortality unless treatment is initiated promptly. The number of cases of gastrointestinal mucormycosis indexed on PubMed over the past 2 decades has shown an alarming rise. Moreover, the infection is being increasingly reported in patients without the traditional risk factors.We report successful management of an immunocompetent child with gastrointestinal mucormycosis who responded to aggressive treatment with surgical debridement and antifungal agents. The fungicidal activity of colistin (polymyxin E) has also been highlighted. Keywords: Mucormycosis, Gastrointestinal mucormycosis, Intestinal perforation, Colistin, Polymyxin

Lumbocostovertebral syndrome (LCVS) is a rare type of congenital lumbar hernia. Its features include lumbar hernia associated with genitourinary, vertebral, and rib anomalies. Less than 25 cases have been reported to date. We describe the clinical manifestations and associated anomalies in 6 cases of LCVS managed by us. The patients with suspected LCVS syndrome should be evaluated by detailed clinical history, examination, conventional radiography, magnetic resonance imaging spine, ultrasound abdomen, and echocardiography. The defect can be repaired using local tissues in infancy. There is a need for long-term follow-up for possible late recurrence and scoliosis.

Management of pyothorax and pneumothorax requires aspiration and/or intercostal drainage.We present two cases which were complicated by instrument-related events resulting in breakage of needle or intercostal drainage tube resulting in pleural foreign body.The patients were stabilized and the foreign bodies retrieved using thoracoscopic approach.Thoracoscopy provides a minimally invasive approach to deal with pleural foreign bodies.

Antenatal detection of Wilms′ tumor is rare and only nine cases have been reported till now in the English literature. We report a case of a 7-month-old child with prenatally detected renal mass managed by nephroureterectomy associated with intraoperative spill. The child developed recurrence while on DD4A chemotherapy. Salvage chemotherapy was initiated but there was no response after two cycles and the child expired due to tumor rupture.

Gastric teratoma is an uncommon neoplasm in infancy. Most of the gastric teratomas described have mature elements while some have immature elements. Occurrence of nephroblastic rests in gastric teratoma has not been described in available literature earlier.

Prolapse of rectum of varying degrees is a well-known entity in children. Spontaneous rupture of the rectum along with massive ileal evisceration because of increased intraabdominal pressure is a rare complication of rectal prolapse in the adults. Rectal prolapse in children is usually a benign condition. Known complications of the rectal prolapse in children include recurrent mucosal ulceration, bleeding, and proctitis. Spontaneous rupture of the rectum with or without ileal evisceration has not been previously reported in infants.

An 11-y-old boy presented with complaints of multiple nodules over upper back and suboccipital region for last 2.5 y. There was associated gradual limitation of movement of neck, followed by right shoulder. The child had received 8 mo of antitubercular therapy and 3 mo of Albendazole after a presumptive diagnosis of tuberculosis and cysticercosis was made elsewhere. On examination, the child had nontender nodules with bony consistency over the back, suboccipital region, chest and abdominal wall. No definitive diagnosis could be made even after consultation with pediatrician and pediatric orthopedician. At open diagnostic biopsy, well formed flat bones in paraspinal muscles with globular swelling which felt like partially calcified cartilage were noticed. The histopathological examination revealed mature bone. Skeletal survey revealed shortened first metatarsal and proximal phalanges of bilateral great toe with hallux valgus (Fig. 1). There was linear ossification in the muscles of back extending from the base of the skull till the sacrum (S1 level). Corroboration of clinical and histopathological features suggested a diagnosis of FOP (Fibrodysplasia ossificans progressive). Audiometry revealed bilateral mild conductive hearing loss. Fibrodysplasia ossificans progressive (FOP) is a progressive, debilitating disease with a prevalence of 0.61 per million but with no described effective treatment [1]. FOP can be diagnosed on the basis of a diagnostic triad: congenital skeletal malformation of the great toes; progressive heterotopic ossification of skeletal muscles, tendons, ligaments, and fascia and progression of disease activity in characteristic anatomic patterns (dorsal to ventral, axial to appendicular, cranial to caudal, and proximal to distal) [2]. Nearly 90 % of FOP patients worldwide are misdiagnosed, and 67 % undergo dangerous and unnecessary diagnostic procedures that lead to permanent harm and lifelong disability in more than 50 % of all affected individuals [3]. Biopsy or excision is useless as the heterotopic bone in FOP is indistinguishable histologically frommature skeletal bone [4]. The genetic defect in FOP (phenotype MIM no 135100) involves mutation in the gene encoding activin receptor IA (gene MIM no 102576) located on chromosome 2q and makes it amenable to genetic testing [5]. Regular assessment of the patient’s functional status by a physiotherapist and occupation therapist is needed to ensure that functionality is maintained. Deep soft issue trauma, intramuscular Fig. 1 Clinical photograph of the foot showing shortened bilateral great toe with hallux valgus