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-Burian syndrome.

CLINICAL DESCRIPTION: Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus. Neuro-cognitive function is not impaired. EPIDEMIOLOGY: Population prevalence of FBS is unknown. AETIOLOGY: Environmental and parental factors are not implicated in pathogenesis. Allelic variations in embryonic myosin heavy chain gene are associated with FBS. White fibrous tissue within histologically normal muscle fibres and complete replacement of muscle by fibrous tissue, which behaves like tendinous tissue, are observed. MANAGEMENT: Optimal care seems best achieved through a combination of early craniofacial reconstructive surgery and intensive physiotherapy for most other problems. Much of the therapeutic focus is on the areas of fibrous tissue replacement, which are either operatively released or gradually stretched with physiotherapy to reduce contractures. Operative procedures and techniques that do not account for the unique problems of the muscle and fibrous tissue replacement have poor clinical and functional outcomes. Important implications exist to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well.

Genotype-phenotype relationships in Freeman-Sheldon syndrome.

Distal arthrogryposis (DA) syndromes are a group of disorders characterized by multiple congenital contractures. DA type 2A (DA2A or Freeman-Sheldon syndrome), caused by mutations in MYH3, is typically considered the most severe of the DA syndromes. However, there is wide phenotypic variability among individuals with DA2A. We characterized genotype-phenotype relationships in 46 families with DA2A. MYH3 mutations were found in 43/46 (93%) kindreds, with three mutations (p.T178I, p.R672C, and p.R672H) explaining 39/43 (91%) of cases. Phenotypic severity varied significantly by genotype (P=0.0055). Individuals with p.T178I were the most severely affected with both facial contractures and congenital scoliosis. Classification of individuals with DA2A into phenotypic groups of varying severity should facilitate providing families with more accurate information about natural history and suggests that individuals might benefit from personalized medical management motivated by MYH3 genotype.

Freeman-sheldon syndrome presenting with microstomia: a case report and literature review.

Freeman-Sheldon syndrome (FSS), as first described by Freeman and Sheldon in 1938, is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. It is part of the nosologic group of pathologies currently known as distal arthrogryposis as reported by Hall et al. (Am J Med Genet 11:185-239, 1982 [1]). It is a rare disorder and its exact prevalence is unknown. Our objective is to report a case of FSS presenting with microstomia and add a brief review of the literature for similar cases.