Síndrome de pterigium poplíteo: abordaje desde la cirugía maxilofacial pediátrica

RESUMEN Introducción: El síndrome de pterigium poplíteo es una enfermedad autosómica dominante poco frecuente que resulta de una mutación en el gen IRF6 (1q32.2-q32.3). Objetivo: Notificar a la comunidad médica sobre el diagnóstico de una paciente con el síndrome de pterigium poplíteo. Presentación del caso: Se presenta el caso de una niña de 4 meses de edad atendida en el Hospital Pediátrico Universitario de Cienfuegos "Paquito González Cueto", con solución de continuidad que se extiende desde el labio superior hasta el paladar blando, así como otras alteraciones a nivel genital, con ausencia de labios mayores y menores y una banda fibrótica (pterigium) en el miembro inferior izquierdo que da la impresión de un miembro corto en comparación con el derecho. Desde la especialidad de cirugía maxilofacial pediátrica, tras haber diagnosticado una fisura de labio y paladar bilateral completa, se realizaron los procederes protocolizados para este tipo de pacientes, que incluyen correcciones quirúrgicas de las malformaciones bucofaciales. Conclusiones: En esta ocasión, se pudo corroborar que por muy rara que puedan ser algunas entidades, las mismas pueden presentarse, por lo que debemos tenerlas presentes al plantear los diferentes diagnósticos diferenciales, para así, tratarlas adecuadamente.

ABSTRACT Introduction: Popliteal pterygium syndrome is a rare autosomal dominant disease resulting from a mutation in the IRF6 gene (1q32.2-q32.3). Objective: Inform the medical community about the diagnosis of a patient with popliteal pterygium syndrome. Case Presentation: The case of a 4-month-old girl treated at "Paquito González Cueto" University Pediatric Hospital of Cienfuegos is presented, with continuity solution that extends from the upper lip to the soft palate, as well as other alterations at the genital level, with the absence of labia majora and minora and a fibrotic band (pterygium) in the left lower limb that gives the impression of a short limb in comparison with the right. From the specialty of pediatric maxillofacial surgery, after having diagnosed a fissure of the lip and complete bilateral palate, the protocolized procedures were carried out for this type of patients, which include surgical corrections of orofacial malformations. Conclusions: On this occasion, it was possible to corroborate that no matter how rare some entities may be, they can be presented, so we must keep them in mind when raising the different differential diagnoses, in order to treat them properly.

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).

O impacto da intervenção fisioterapêutica sobre o desempenho motor e equilíbrio de uma criança com diagnóstico de síndrome do pterígio poplíteo: estudo de caso / The impact of physical therapy intervention on motor performance and balance of a child diagnosed with popliteal pterygium syndrome: case report

A síndrome do pterígio poplíteo (SPP) é uma doença congênita rara cujo tratamento fisioterapêutico visa independência funcional. O objetivo deste estudo foi verificar o efeito de um plano fisioterapêutico sobre a amplitude de movimento, o desempenho motor e o equilíbrio de uma criança com SPP. Menina de 4 anos realizou um programa interventivo com 20 sessões de fisioterapia de 40 minutos cada, uma vez por semana. Para avaliação dos resultados do programa, foram utilizados a Escala de Desenvolvimento Motor, a Escala de Equilíbrio Pediátrica e o Teste de Goniometria Manual. Ao término do período interventivo, e após 1 mês, a criança foi reavaliada, constando-se incrementos no desempenho motor, no equilíbrio e na amplitude de movimento, principalmente na extensão de joelhos. Demais ganhos podem não ter sido alcançados devido à adaptação prévia da criança à sua condição. Os resultados apresentados evidenciam a contribuição da fisioterapia para a melhora da independência funcional e da qualidade de vida do paciente com SPP (AU)

Popliteal pterygium syndrome (PPS) is a rare congenital disease whose physical therapy (PT) treatment aims at functional independence. The objective of this study was to investigate the effect of a PT plan on range of motion, motor performance, and balance of a child with PPS. A 4-year-old girl underwent an interventional program with 20 PT sessions of 40 minutes each, once a week. The Motor Development Scale, the Pediatric Balance Scale, and the Manual Goniometry Test were used to evaluate the results of the program. At the end of the intervention period, and after 1 month, the child was reassessed, showing increases in motor performance, balance, and range of motion, especially in knee extension. Other gains may not have been achieved due to the child's prior adjustment to her condition. The results presented here emphasize the contribution of PT to the improvement of the functional independence and quality of life of patients with PPS (AU)

Treatment of Popliteal Pterygium Using an Ilizarov External Fixator

Popliteal pterygium syndrome is a rare congenital disorder that consists of popliteal webs and craniofacial, genitourinary and extremity anomalies. Only moderate successful surgical excision of the fibrotic band within the popliteal web has been reported because the nerves and vessels in the affected site are short and displaced into the web and they are attached to adjacent tissues. We performed hamstring tenotomy on the ischial tuberosity, tenotomy of the flexor hallucis longus and Z-lengthening of the Achilles tendon on the ankle in our patient, and this was followed by gradual correction using an Ilizarov external fixator. Full extension of the knee joint was achieved at the ninth postoperative week. However, some recurrence of flexion contracture was noted at two years follow-up. Gradual soft tissue lengthening with an Ilizarov external fixator can be one of the optimal procedures when excision of a fibrous band and Z-plasty are not possible due to severe adhesion of the nerves and vessels into a fibrotic band. However, a cautious approach is recommended when considering the high risk of recurrence.

Popliteal pterygium syndrome: A Case Report / 대한정형외과학회잡지

Popliteal pterygium syndrome is rare, with 60 cases described in the literature. The syndrome includes a popliteal web extending from the ischium to the heel and other abnormalities including toenail dysplasia, deformities of the foot and toes, and oral cavity abnormalities. The main orthopedic problem is a flextion contracture of the knee and an equinus foot. We experienced a six-month-old girl with popliteal pterygium, in whom resection of abnormal fibrotic muscle belly, Achilles tendon legnthening, and Z-plastic lengthening of the skin resulted in partial correction of flexion deformity of the knee and equines contracture of the foot at one year follow-up.