A Case of Distal Arthrogryposis Combined with Scoliosis / 罕见病研究

Distal arthrogryposis is a rare disease caused by mutations in genes encoding proteins involved in muscle fiber contraction. Its joint contracture mainly involves distal joint contracture, and scoliosis is often accompanied by pelvic tilt and abnormal lordosis.This article reviewed the clinical characteristics of a patient with distal arthrogryposis combined with scoliosis. The patient was a 14-year-old male. His back was found that uneven 6 years ago for no obvious reason, and his scoliosis was gradually worsened. The patient had flexion contractures of both hands and bilateral knees since childhood, and no special treatment was given. There was no obvious restriction in the movement of the spine, the thoracic segment was convex on the right side, and the lumbar segment was convex on the left side. The genetic diagnosis was MYL11 gene mutation, which was consistent with the clinical manifestations of distal arthrogryposis combined with scoliosis. Posterior scoliosis correction and growing rod placement were performed electively. The operation went smoothly and the trunk balance was satisfactory. The clinical characteristics of this disease are summarized to improve our understanding of the disease.

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.

First Korean Family with a Mutation in TPM2 Associated with Sheldon-Hall Syndrome

Sheldon-Hall syndrome (SHS) is a rare autosomal dominant, inherited arthrogryposis syndrome characterized by multiple congenital contractures of the distal limbs. To date, four genes that encode the skeletal muscle fiber complex have been confirmed as the causative genes. Mutations in MYH3 have been identified most frequently and few cases of SHS caused by TPM2 mutations have been reported worldwide. This report describes, for the first time, a Korean family with two generations of SHS resulting from a rare TPM2 mutation, p.R133W. The affected mother and daughter manifested typical facial features of SHS including a triangular face with downslanting palpebral fissures, small mouth, high arched palate, and prominent nasolabial folds, and showed camptodactyly of fingers and deformities of feet with congenital vertical tali. Generalized myopathy with relative sparing of the slow-twitch muscle fibers was also revealed by electromyography in the affected mother.

Distal arthrogryposis syndrome.

A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome.