Escobar syndrome, difficult airway management in pediatrics: A case report / Síndrome de Escobar, manejo de vía aérea difícil pediátrica: a propósito de un caso

Abstract Escobar syndrome is a rare, autosomal recessive disease of unknown incidence. It is characterized by multiple skeletal, genitourinary and orofacial abnormalities. The multiple malformations (mainly orofacial) and restricted mobility of these patients pose a challenge to the anesthesia team, especially as regards airway management. We describe the clinical case of a pediatric patient diagnosed with Escobar syndrome who underwent two consecutive anesthesia interventions, with evidence of progressive airway anomalies that characterize this syndrome. The case required adaptation, according to the clinical stage of the disease, of the current algorithms used to approach an anticipated difficult airway in pediatrics, and the incorporation of new devices, not described so far in patients with this pathology, as part of the planning and execution phases.

Resumen El síndrome de Escobar es una enfermedad rara, autosómica recesiva, de incidencia desconocida. Se caracteriza por múltiples anomalías esqueléticas, genitourinarias y orofaciales. Las múltiples malformaciones (principalmente orofaciales) y la restricción de la movilidad de estos pacientes determinan un desafío para el equipo anestésico, especialmente en el manejo de la vía aérea. Se describe el caso clínico de una paciente pediátrica con diagnóstico de síndrome de Escobar que fue sometida a dos anestesias consecutivas, en el que se evidencia una progresión de las anomalías de la vía aérea propias del síndrome, por lo que se requiere adecuar, según el estadío clínico de la enfermedad, los algoritmos actuales de abordaje de vía aérea difícil pediátrica anticipada y la incorporación de nuevos dispositivos en la planificación y ejecución para su manejo que no han sido descritos en pacientes con esta patología.

Manejo quirúrgico de la deformidad vertebral en un paciente con síndrome de Escobar: revisión de la literatura / Surgical management of spinal deformity in a patient with Escobar syndrome

Resumen: Antecedentes: El síndrome de Escobar o de pterigium múltiple en su variante no letal es una entidad con tipo de herencia autosómica recesiva ligada al cromosoma X; se caracteriza por presentar múltiples pterigiones -de ahí su nombre-, principalmente localizados en cuello (95%) y axilas (55%), así como otras malformaciones de tipo ortopédico como astrágalo vertical, luxación congénita de cadera y escoliosis congénita. Objetivo: Dar a conocer una técnica quirúrgica opcional para el manejo de deformidades vertebrales severas en pacientes con este síndrome. Caso clínico: Femenina de 12 años de edad con diagnóstico de síndrome de Escobar con escoliosis severa que condiciona malformaciones de la caja torácica con compromiso pulmonar, produciendo restricción de la mecánica ventilatoria e incrementando el riesgo de infección severa de vías aéreas inferiores. Se realiza instrumentación posterior con manos libres y sistema PASS LP más osteotomías de Smith-Petersen. Conclusiones: Mejora del ángulo de Cobb de 62° a 23°, así como del balance sagital de 125 mm a 73 mm.

Abstract: Background: The non-lethal variant of the Escobar or multiple pterygium syndrome is an entity of autosomal recessive inheritance linked to the X chromosome; it is characterized by multiple pterygia (hence its name) located mainly in the neck (95%) and armpits (55%), as well as other orthopedic malformations such as a vertical talus, congenital hip dislocation, and congenital scoliosis. Objective: To present an optional surgical technique for the management of severe spinal deformities. Case report: Twelve-year-old female diagnosed with Escobar syndrome with severe scoliosis which conditions malformations of the chest with lung involvement, producing mechanical ventilatory restriction and increasing the risk of severe lower respiratory tract infection. We performed a hands-free posterior instrumentation with PASS LP system and Smith-Petersen osteotomies. Conclusions: The Cobb angle improved from 62° to 23° and the sagittal balance from 125 mm to 73 mm.

Multiple pterygium syndrome (escobar syndrome) with atrial septal defect.

The authors present the first case of multiple pterygium syndrome (OMIM # 265000) from Gujarat, a rare syndrome characterized by multiple pterygia, facial and skeletal anomalies. A 9-year-old female child born of consanguineous marriage, with features of arthrogryposis multiplex, multiple pterygia, hypoplastic genitalia and skeletal anomalies presented with pneumonia. A previously unreported association of Atrial Septal defect was discovered on routine 2D echocardiography, which is important for prognostication and follow-up.

Escobar syndrome in three male patients of same family.

We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made in 1902 from this same place (Pondicherry) and the disease received its present popular name Escobar syndrome in 1982. The genetic defect for this condition was identified in 2006 as mutation in the fetal acetylcholine receptor.

Modified double Z plasties for correction of webbed neck defects / 中华医学美学美容杂志

Objective To study the clinical efficacy of bilateral double Z plasties for correction of the webbed neck defects, and to explore its principle and superiority to other reported methods. Methods We designed a small Z plasty over the mastoid with a rhomboidal skin resection of infra-hairline, and another large Z plasty transposition skin flap in superior-acromion. The tight band of fibrous webbing was separately cut and undermined at infra-mastoid and midclavicular line, wherein the middle part of the band retracted medially.Results It involved narrow tunneled anterolateral skin undermining and minimal skin resections from the nape of the neck, and posterior rhomboidal skin excision avoided the unnatural and noticeable lateral scars with normal skin extended in the middle of the webbing.The resultant scar was hidden and mild with no hypertrophic scars. A total of 5 cases were repaired, in which 1 case was male, 4 others were females. Follow-up for 1 to 11 years showed that the appearance and function in the repaired sites by using the bilateral double Z-plasties for repair of webbed neck deformity were very satisfactory. Conclusion We propose the use of this technique for correction of webbed neck deformities with simplified manipulation and cosmetic effect.

Prenatal ultrasonographic findings of a case of multiple pterygium syndrome / 대한산부인과학회지

Multiple pterygium syndrome is an inherited condition characterized by joint pterygium and flexion contracture, in association with other abnormalities such as fetal hydrops, cystic hygroma, club foot, intrauterine growth retardation and hypoplastic lungs. It is usually inherited as an autosomal recessive trait, although X-linked recessive inheritance is also reported. The pathogenesis has been suggested to be early onset fetal akinesia, fragile collagen or generalized edema. Prenatal diagnosis of multiple pterygium syndrome is possible by demonstrating severe limb contractures, absence of fetal limb motion and progressive fetal edema in mid-pregnancy, but in case with a family history of this syndrome, ultrasound studies should be started in the first trimester. We have experienced a multiple pterygium syndrome with a history of recurrent fetal hydrops, so report on the prenatal sonographic findings of this case with brief review of literatures.

Multiple pterygium syndrome (escobar syndrome).

Escobar (multiple pterygium) syndrome is a rare autosomal recessive disorder characterized by short stature, multiple pterygium, joint contractures, vertebral fusions and minor facial anomalies. There is extreme phenotypic variability. The etiologic and genetic basis of multiple congenital pterygium is very heterogenous. Mutidisciplinary approach includes primary care physician or pediatrician, orthopedist, physical therapist and plastic surgeon. We report a case of multiple pterygium syndrome most likely the first reported case in Thailand that still alive and have had successful operative treatment of the spine and left foot. This 5-year-old Thai girl with short stature, ptosis of both eyelids, antimongoloid slant of palpebral fissures, hypertelorism, micrognathia, flat facies with emotionless expression, pterygium at neck, axillae, antecubital, popliteal, thumbs in palms, talipes equinovarus deformity, scoliolordosis at thoracic spine was described. She went through successive operations : plastic surgical correction of ptosis of both eyelids; anterior spinal fusion at thoracic spine; postero medical release at left foot with good result.

Multiple pterygium syndrome: Report of three cases from Siriraj Hospital.

Multiple pterygium syndromes is a rare syndrome, only 48 cases have been reported in the literatures. The significant features are comprised of, growth and development retardation, webbing of neck, axillae, antecubital, popliteal, and antecrural joint or area, with disfiguration of external genitalia, interphalangeal joint webbing and club foot. The abnormality greatly interferes with normal joint function and leaves the patient in severely disabled conditions. Three patients reported were seen at Siriraj Hospital between 1981-1987. The first case is still alive, 10 years of age. The other two died at the age of one month due to aspiration and congestive heart failure. Pathological studies were done on both cases.