Síndrome de Freeman-Sheldon

RESUMEN Introducción: El síndrome de Freeman-Sheldon es un síndrome hereditario raro, de severidad variable que afecta principalmente la cara, manos y pies, sin preferencia de género, étnica o geográfica. Objetivo: Caracterizar clínicamente a un paciente con síndrome Freeman-Sheldon. Presentación del caso: Niña ecuatoriana de 6 años de edad, hija de madre de 43 años y padre de 42 años, la cuarta de 6 hermanos, todos sanos, no historia de consanguinidad. La cual presenta cara parecida a una máscara, ojos hundidos, puente nasal ancho, boca pequeña con apariencia de silbador, hoyuelo cutáneo en mentón en forma de H, defecto en las manos, contractura de los dedos con desviación cubital y pies equinovaro, dificultad para la marcha y baja talla. Conclusiones: El síndrome de Freeman-Sheldon es un síndrome raro que afecta principalmente la cara y las extremidades de los pacientes, cuyo diagnóstico clínico es posible luego de un examen físico exhaustivo.

ABSTRACT Introduction: Freeman-Sheldon syndrome is a rare hereditary syndrome of varying severity that mainly affects the face, hands and feet, without gender, ethnic or geographical preference. Objective: Clinically characterize a patient with Freeman-Sheldon syndrome. Presentation of the case: Ecuadorian girl, 6 years old, daughter of mother of 43 years and father of 42 years, the fourth of 6 brothers, all healthy, not history of consanguinity. She presents mask-like face, sunken eyes, wide nasal bridge, small mouth with the appearance of a whistler, skin dimple on the chin in the shape of an H, defect in the hands, contracture of the fingers with ulnar deviation and clubfoot, also walking difficulty and short height. Conclusions: Freeman-Sheldon syndrome is a rare syndrome that mainly affects the face and limbs of patients, whose clinical diagnosis is possible after a thorough physical examination.

Freeman Sheldon Syndrome with Characteristic Whistling Face and Windmill Vane Hand Deformity.

Freeman-Sheldon syndrome (FSS) is an extremely rare syndrome with only about 100 cases reported [1]. It was first described by Freeman and Sheldon in 1938 [2]. It is characterized by oropharyngeal abnormalities, contractures of the hands and feet and a characteristic "whistling" facies. We report a male neonate of Freeman Sheldon Syndrome presenting with small mouth (microstomia) and pursed lips, prominent nasolabial folds and bilateral distal arthrogryposis. A brief review of literature has also been added.

Freeman-sheldon syndrome-prenatal and postnatal diagnosis.

A six-day-old girl, born to normal non-consanguineous parents presented with mask like facies with a small mouth giving a ‘whistling’ appearance. Other dysmorphic features include deep set eyes, broad nasal bridge, long philtrum and ‘H’ shaped cutaneous dimple on the chin. There was congenital windmill vane hand position and severe talipes equinovarus deformity. The above features are characteristic of Freeman-Sheldon syndrome also known as Whistling Face syndrome. Ultrasound scanning during 8th month of the pregnancy showed the fetus to have facial abnormality and bilateral clenched hand and talipes with extension contractures of knees. Provisional diagnosis of FSS was made which was confirmed after the birth. Thus all cases of Arthrogryposis during prenatal scan should be carefully looked for the facial abnormality in the fetus.

Intubación fibróptica y manejo anestésico de un paciente pediátrico con Síndrome de Freeman-Sheldon / Fiberoptic intubation and anesthetic management of a pediatric patient with Freeman-Sheldon syndrome

Presentamos el caso de un niño con síndrome de Freeman-Sheldon programado para la correccióc quirúrgica de su microstomia. El niño presentabn la característica de "cara de silvador"y deformidades de artrogríposis en manos y pies. Se expone el manejo anestésico y de la vía aéred.

We describe e case of a child with typical clinicalfeaturea of Freeman-Sheldon syndrome (FSS) presentedfor elective surgical correction of microstomia. The anaesthetic cnd airtuay problems encountered erediscussed.

A Case of Freeman-Sheldon Syndrome

PURPOSE: To report a patient with Freeman-Sheldon syndrome with blepharophimosis. METHODS: A 4-year-old girl with congenital facial abnormalities consistent with Freeman-Sheldon syndrome presented with complaints of blepharophimosis. The characteristic features of microstomia, down-slanting palpebral fissure, blepharoptosis, and telecanthus were also found. Y-V epicanthoplasty and levator aponeurosis resection were performed. RESULTS: Surgical intervention to correct ptosis and telecanthus led to initially fair cosmetic results, but one month later an unexpected decrease in interpalpebral fissure height was noted. CONCLUSIONS: Freeman-Sheldon syndrome with blepharophimosis is very rare. It was necessary to correct blepharoptosis, telecanthus, and blepharophimosis in the oculoplastic service in this case.

Total Intravenous Anesthesia for Freeman-Shelden Syndrome / 대한마취과학회지

Freeman-Sheldon syndrome (FSS) is a rare congenital myopathy and dysplasia characterized by a whistling mouth and hand-foot anomalies. There are several anesthetic challenges like difficult airway and intravenous access, and the possibility of malignant hyperthermia. We controlled the anesthetic management of a patient with FSS undergoing contractured thumb correction. Intubation was done with a tracheal tube by direct laryngoscopy after three failed attempts. An anesthetic technique triggering malignant hyperthermia was not used. Anesthetic agents used were ketamine, propofol, fentanyl and nitrous oxide under spontaneous respiration. The child had an uneventful anesthetic course and no sign or symptoms of malignant hyperthermia.

Anesthetic Experience for Freeman-Sheldon Syndrome: A case report / 대한마취과학회지

Freeman-Sheldon syndrome is a rare congenital myopathy principally characterized by facial and skeletal abnormalities. We report a case of a Freeman-Sheldon syndrome in 12-year-old girl correction of undergoing kyphoscoliosis under somatosensory evoked potential monitoring. She had a characteristic appearance of Freeman-Sheldon syndrome such as hypoplastic alae nasi, high narrow palate, marked microstomia with pursed lips and clenched fingers. On arriving at the operating room, she was intubated by awake nasotracheal intubation with fiberoptic bronchoscopy and anesthetized with propofol and fentanyl.

A Case of Freeman-Sheldon Syndrome in Father and Son

Freeman-Sheldon syndrome is a rare syndrome first described by Freeman and Sheldon in 1938. Features of the syndrome include a characteristic facial appearance with multiple skeletal anomalies due to abnormal muscle tone. Since its first description, the syndrome has been called the Freeman-Sheldon syndrome, Windmill-Vane-Hand syndrome and Whistling-Face syndrome. The diagnosis may be made clinically during the first year of life. The majority of reported cases of Freeman-Sheldon syndrome are autosomal dominantly inherited but a clinically indistinguishable autosomal recessive type has been reported. We experienced a case of Freeman-Sheldon syndrome in a newborn who presented with prominent supraorbital ridge, sunken eyes, telecanthus, short nose, long philtrum, and marked microstomia. The neck was short. The hands showed symmetrically clenched fingers with camptodactyly and feet demonstrated bilateral talipes equinovarus. His father has a slight microstomia and contractures of both fingers.

Freeman-Sheldon Syndrome: Difficult Intubation A case report / 대한마취과학회지

The Freeman-Sheldon syndrome (FSS) is a rare congenital myopathy. Main manifestations are "whistling face", camptodactyly with ulnar deviation of the finger and talipes equinovarus. Myopathic fibrotic circumoral musculature result in microstomia with the characteristic protruding pursed "whistling lip" and mandibular and laryngeal development may also be abnormal. Thus the patients with FSS are expected to difficult intubation and the use of muscle relaxant should not be expected to improve intubating condition. We report a children with the Freeman-Sheldon syndrome who was intubated with fiberoptic laryngoscope and discuss anesthetic consideration.

Freeman-Sheldon Syndrome: Report of Two Cases in a Family / 대한정형외과학회잡지

Freeman-Sheldon Syndrome is one of the very rare genetic diseases which primarily affects face, hands and feet. At first, Freeman and Sheldon described this syndrome as cranio-carpo-tarsal dystrophy in 1938 and later Burian, as "whistling face" syndrome in 1963. There were 60 cases of reports in the world up to now, and only one paper with 5 cases in a family was reported in Korea. The authors report 2 cases of Freeman-Sheldon Syndrome associated with bilateral inguinal hernias and undescended tests in a family, briefly review the literature and alert orthopaedic surgeons to this condition.