Popliteal Pterygium Syndrome Research Articles

Walking Ability After Microsurgical Reconstruction of Pediatric Popliteal Pterygium Syndrome—A Case Report

Background: Popliteal pterygium syndrome (PPS) is a rare congenital disorder characterized by orofacial, cutaneous, musculoskeletal, and genital anomalies. Surgical interventions are necessary to address the severe knee flexion contracture and equinovarus deformity, but there are no established treatment guidelines. Methods: We present the case of a one-year-old patient with PPS and discuss the challenges in managing the knee deformity. The surgical option chosen for the unilateral knee contracture of 80° consisted of skin management by a large Z-plasty, lengthening of popliteal vessels by grafts, lengthening of the tibial and peroneal nerves by autografts and allografts, capsular releases, and tendon releases to improve mobility and preserve foot sensibility. Results: With a three-year follow-up, the surgical interventions resulted in proper ability to walk freely. Wearing of a foot orthesis was necessary to balance the leg length differences and support the midfoot deformity. Furthermore, sensation of the foot could be restored in terms of touch sensibility and perfusion was always stable during growth. Discussion: The treatment of PPS requires a multidisciplinary approach, considering the rarity and complexity of the syndrome. Surgical interventions aim to release contractures, correct deformities, and preserve foot sensibility. Each treatment option has its advantages and disadvantages, highlighting the need for individualized care.

Case Report of Recurrent Popliteal Pterygium Syndrome

AbstractA 23 week pregnant woman with a history of a child with facial and limb malformations underwent a fetal ultrasound revealing similar abnormalities in the current fetus. Genetic testing confirmed a new IRF6 gene mutation consistent with popliteal pterygium syndrome type 1. This case highlights the potential for recurrence and the role of genetic testing in prenatal diagnosis.

Comparative analysis of surgical treatment modalities for a popliteal pterygium: a meta-analysis.

Popliteal pterygium syndrome is a rare congenital disorder characterized by orofacial, cutaneous, musculoskeletal, and genital anomalies. The popliteal pterygium (PP) affects ambulation due to severe knee flexion contracture and equinovarus deformities. Surgical treatment aims to correct these deformities while preserving limb sensibility. However, due to its rarity, surgical guidelines are lacking. A meta-analysis according to PRISMA guidelines was conducted to summarize and compare surgical methods for PP. 183 paper were identified in PubMed and data from 32 articles were analyzed, including patient demographics, treatment modalities (Ilizarov fixator, femoral osteotomy, skin/soft tissue procedures, hamstring release, nerve surgery, and amputation), pre- and post-operative abilities to walk, knee joint parameters, complications, and recurrent contractions. Among 58 patients (87 limbs), Ilizarov fixator demonstrated improved knee and ankle mobility postoperatively, but showed a relatively high surgical session count and complication rates. Femoral osteotomy achieved successful knee posture correction with fewer sessions and no complications. Isolated skin/soft tissue procedures improved flexion contracture and mobility, though they required several procedures. Hamstring release achieved notable contracture reduction but also necessitated multiple interventions. Nerve surgery and amputation had limited data, warranting further investigation. The management of PP demands a comprehensive approach, considering individual patient characteristics and treatment outcomes. While different surgical modalities offer distinct benefits, a classification or guideline to treat this deformity is still lacking. Further research is essential to validate findings, refine treatment approaches, and enhance the quality of life for individuals with PP.

Popliteal pterygium syndrome: A case report on abnormal insertion of hamstrings

The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. We report one case of the same who underwent surgical correction for abnormal insertion of hamstrings.

Submucosal dissection to close wide cleft palate with folded mucoperiosteum for bilateral cleft lip and palate with popliteal pterygium syndrome.

Characteristic features of popliteal pterygium syndrome (PPS) associated with the craniofacial region include cleft palate, syngnathia, and difficulty with reconstruction. We developed a new procedure of submucosal dissection with periosteotomy to close the folded mucosa in bilateral cleft lip and palate patients with PPS. This technique could be applicable for patients with wide cleft palate.

Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.

To date, there are over 320 variants identified in the IRF6 gene that cause Van der Woude syndrome or popliteal pterygium syndrome. We sequenced this gene in a South African orofacial cleft cohort to identify the causal IRF6 variants in our population. Saliva samples from 100 patients with syndromic and non-syndromic CL ± P were collected. Patients were recruited from the cleft clinics at two public, tertiary hospitals in Durban, South Africa (SA), namely Inkosi Albert Luthuli Central Hospital (IALCH) and KwaZulu-Natal Children's Hospital (KZNCH). We prospectively sequenced the exons of IRF6 in 100 orofacial cleft cases, and where possible, we also sequenced the parents of the individuals to determine the segregation pattern. Two variants were identified; one novel (p.Cys114Tyr) and one known (p.Arg84His) missense variant in IRF6 gene were identified. The patient with the p.Cys114Tyr variant was non-syndromic with no clinical VWS phenotype expected of individuals with IRF6 coding variants, and the patient with the p.Arg84His had phenotypic features of popliteal pterygium syndrome. The p.Arg84His variant segregated in the family, with the father also being affected. This study provides evidence that IRF6 variants are found in the South African population. Genetic counselling is essential for affected families, particularly in the absence of a known clinical phenotype since it helps with the plans for future pregnancies.

A rare case of popliteal pterygium syndrome

Popliteal pterygium syndrome is very rare genetic disorder, it can occur in multiple parts of the body, especially the kness with. This current case report describes an 14-day-old newborn admitted to the department of pediatric orthopaedic surgery for a popliteal pterygium syndrome. Clinical examination revealed an extensive bilateral popliteal webs. A doppler ultrasound was performed to specify the spatial relationship between the popliteal artery, the sciatic nerve, and the fibrous band. We proceeded to the resection of the webs with Z-plasties, and successive casts were performed.

Ankyloblepharon filiforme adnatum associated with popliteal pterygium syndrome: A case report

Aim: To report a patient of ankyloblepharon filiforme adnatum along with popliteal pterygium. Case report: A five-month-old girl presented with bilateral ankyloblepharon, cleft lip, cleft palate, bilateral syngnathia, popliteal pterygium in both lower limbs, syndactyly in the right foot, and genital anomalies. Ankyloblepharon was released for proper vision. Conclusion: Popliteal pterygium syndrome presented with ankyloblepharon is filiforme adnatum; may present to an ophthalmologist in delay but prompt action is needed for good vision.

Insight into RIPK4 mutations I121N and T184I involved in popliteal pterygium syndrome lethal type using computational methods

Insight into RIPK4 mutations I121N and T184I involved in popliteal pterygium syndrome lethal type using computational methods

The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.

Cleft lip and cleft palate (CL/P) are among the most common congenital malformations in neonates and have syndromic or nonsyndromic forms. Nonsyndromic forms of malformation are being reported to be associated with chromosomal DNA modification by teratogenic exposure and to complex genetic contributions of multiple genes. Syndromic forms are shown to be related to chromosomal aberrations or monogenic diseases. There is a growing body of data illustrating the association of several genes with risk of developing this malformation, including genetic defects in T-box transcription factor-22 (TBX22), interferon regulatory factor-6 (IRF6), and poliovirus receptor-like-1 (PVRL1), responsible for X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively. Genetic variants in MTR, PCYT1A, ASS1, SLC 25A13, GSTM1, GSTT1, SUMO1 BHMT1, and BHMT2 are being reported to be linked with CL/P risk. The etiology of nonsyndromic CLP is still remained to be unknown, although mutations in candidate genes have been found. Here, we provide an overview about the potential variants to be associated with CL/P for identification of the relative risk of CLP with respect to the basis of genetic background and environmental factors (e.g., dietary factors, alcohol use).

Pterygium Popliteal Syndrome Concerning a Case in the Pediatric Surgery Department of the Donka National Hospital (Conakry CHU)

Introduction: Popliteal pterygium syndrome is a rare birth defect, combining craniofacial, genitourinary and musculoskeletal abnormalities. It is an autosomal dominant disease caused by a mutation in the IRF6 gene. We report in this observation the 1st Guinean case corrected by the surgical method as well as a review of the literature for a diagnostic and therapeutic approach. Patient and observation: We present the case of a 7-day old male newborn weighing 2700 g who was received for bilateral cleft lip and palate, lower lip fossa or sinuses, bilateral popliteal pterygium, and triangular skin fold above the hallux. The patient underwent several surgical procedures aimed at correcting these abnormalities. The correction of the pterygium of the lower limbs was ensured by excision of the fibrous band, the tenoplasty in z of the calcaneal tendon on the right side and the skin plasty in z in series then immobilized by plaster splints. The immediate postoperative follow-up was straightforward. Conclusion: Popliteal pterygium syndrome is a rare congenital malformation, the diagnosis is primarily clinical. Early soft tissue lengthening surgery and serial z-skin plasty provide better correction of the knee pterygium. Correct correction of facial abnormalities gives the child a better appearance. The management of this syndrome is multidisciplinary.

Surgical Correction of Popliteal Pterygium with Serial Splinting: A Case Report and Review of Literature

Summary:Popliteal pterygium syndrome is an extremely rare congenital disorder, with only a few cases reported in the literature. It consists of facial, genitourinary, and musculoskeletal anomalies. A very striking characteristic of this syndrome is the popliteal pterygium contracture, which is considered the most challenging malformation to be corrected. Hence, we report a case of popliteal pterygium contracture in a 30-month-old female child with no family history of popliteal pterygium syndrome. The child was treated successfully with satisfactory results, by combining surgical intervention with postoperative serial splinting. We discuss here the tips and tricks of the surgical approach we performed, which was followed by serial splinting and physiotherapy. In addition, a literature-based review was performed providing a summary of all relevant reported cases.

Popliteal Pterygium Syndrome at the Mother and Child University Hospital Lagune of Cotonou: Epidemiological, Clinical and Therapeutic Aspects

Introduction: Congenital webbing knee or popliteal pterygium is the tissue filling the posterior aspect of the joint limiting extension. It can be part of several syndromes including the popliteal pterygium syndrome (SPP). Purpose: To present the cases of patients suffering from Patient and Method: This is a description of epidemiologica, clinical and therapeutic aspects of clinical cases of webbing admitted to our unit over 10 years.

A Neglected Case of Popliteal Pterygium Syndrome Presenting in Adulthood

A Neglected Case of Popliteal Pterygium Syndrome Presenting in Adulthood

Popliteal pterygium syndrome and surgical approach in a preterm neonate

Popliteal pterygium syndrome and surgical approach in a preterm neonate

Popliteal pterygium syndrome: case report from rural India

The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is also known as faciogenitopopliteal syndrome. It is autosomal dominant disorder. It has highly variable expressivity and incomplete penetrance. The incidence of the popliteal pterygium syndrome is 1/300000, which makes it an extremely rare condition. The most striking characteristic of this syndrome is popliteal pterygium, which consists of a net of connective tissue spreading from the ischial tuberosity to the calcaneus.In this study, authors present the case of a 1 day old male patient with cleft upper lip, cleft palate, bifid scrotum, popliteal pterygium and congenital talipes equinovarus (CTEV).

Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.

BackgroundThe development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in these well‐organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most common causes of syndromic cleft lip and/or palate accounting for 2% of all cases. Mutations in the IRF6 gene account for 70% of cases with the majority of these mutations located in the DNA‐binding (exon 3, 4) or protein‐binding domains (exon 7–9). The current study was designed to update the list of IRF6 variants reported for VWS by compiling all the published mutations from 2013 to date as well as including the previously unreported VWS cases from Africa and Puerto Rico.MethodsWe used PubMed with the search terms; "Van der Woude syndrome," “Popliteal pterygium syndrome,” "IRF6," and "Orofacial cleft" to identify eligible studies. We compiled the CADD score for all the mutations to determine the percentage of deleterious variants.ResultsTwenty‐one new mutations were identified from nine papers. The majority of these mutations were in exon 4. Mutations in exon 3 and 4 had CADD scores between 20 and 30 and mutations in exon 7–9 had CADD scores between 30 and 40. The presence of higher CADD scores in the protein‐binding domain (exon 7–9) further confirms the crucial role played by this domain in the function of IRF6. In the new cases, we identified five IRF6 mutations, three novel missense mutations (p.Phe36Tyr, p.Lys109Thr, and p.Gln438Leu), and two previously reported nonsense mutations (p.Ser424*and p.Arg250*).ConclusionMutations in the protein and DNA‐binding domains of IRF6 ranked among the top 0.1% and 1% most deleterious genetic mutations, respectively. Overall, these findings expand the range of VWS mutations and are important for diagnostic and counseling purposes.

Management of severe congenital flexion deformity of the knee using Ilizarov method.

The aim of this study was to examine the effectiveness of Ilizarov method in severe congenital flexion deformity of the knee. This was a retrospective study of eight consecutive bilateral cases (five girls and three boys, with mean age of 4 years, involving 16 knees) with minimum 2-year follow-up. Four patients had multiple congenital contractures and two patients each had popliteal pterygium syndrome and complete tibial hemimelia. All patients were treated with Ilizarov fixator and gradual correction (additional soft tissue releases in three knees). Six patients had bilateral foot and ankle deformity treated with the same fixator, and cases with tibial hemimelia had centralization of fibula and quadriceps reconstruction. Flexion deformity could be corrected in all cases. Mean duration of dynamic phase was 78.5 (55-108) days, that of static phase was 42.4 (7-100) days, and total duration of external fixation was 120.9 (87-186) days. At mean follow-up of 34.5 (23-60) months, flexion deformity improved from the preoperative value of 74.9° (50°-130°) to 13.7° (10°-16°), and passive arc of motion of knee improved from the preoperative value of 38.8° (20°-55°) to 83.6° (55°-110°). Both were statistically significant (P < 0.0001). All patients (previously nonambulatory) were ambulatory with brace and support. All patients faced pin-tract and skin complications that were successfully managed. Ilizarov method is effective in severe congenital flexion deformity of the knee in improving ambulatory status. Realignment of quadriceps mechanism and limb mechanical axis (including ankle and foot deformities) must be given due importance. Minor recurrences of deformity must be expected in all cases.

An isolated case of maxillomandibular syngnathia in a new born

Congenital maxillomandibular syngnathia is a rare disorder. It is usually seen in association with various syndromes such as Van der Woude, popliteal pterygium syndrome, or in association with other defects. Isolated case reports of bony fusion of jaws are sparse. We report an isolated case of congenital fusion of the mandible and maxilla in a newborn baby and describe the clinical and radiological features of this anomaly. A brief review of literature is also presented.

Facio Genito Popliteal Syndrome―A Review

The finding of cleft lip and/or palate, congenital sinuses of the lower lip, popliteal pterygium, and genital anomalies in any combination was first termed Popliteal Pterygium Syndrome (PPS) by Gorlin and Pindborg in 1964. Rintala and Lahti (1970), on the basis of the term not being fully descriptive, suggested the eponym facio-genito-popliteal syndrome. Nevertheless, it is the original term which is commonly used. The pathogenesis of the syndrome is obscure, though it has been suggested that the hereditary factor involved predisposes to developmental arrest. In some publications the names of Fevre and Languepin are used as an eponym. A more descriptive term suggested for the condition, on the basis of incomplete expression of the features of the syndrome, is ‘facio-genito-popliteal syndrome’. However, the most widely used term for this disorder is ‘popliteal pterygium syndrome’. Autosomal dominant inheritance with highly variable expressivity and incomplete penetrance is widely accepted.