منابع مشابه
Sheldon-Hall syndrome
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS ...
متن کاملFreeman-Sheldon Syndrome
Freeman-Sheldon syndrome (FSS) is a rare inherited form of distal arthrogryposis characterized by craniofacial deformities, camptodactyly with ulnar deviation of the fingers, and talipes equinovarus. Less than hundred cases have been reported till 2010 [1-3]. Multiple surgical interventions are needed to provide an acceptable quality of life. Anesthetic complications occur commonly [4, 5]. We p...
متن کاملFirst 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 worl...
متن کامل[Freeman-Sheldon syndrome. Report of a case].
Freeman-Sheldon syndrome is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. FSS (FreemanSheldon Syndrome) is also known as craniocarpotarsal dysplasia (or dystrophy), distal arthrogryposis type IIA (DAIIA), whistling face syndrome, and whistling face-windmill vane hand syndrome. The syndrome ...
متن کاملFreeman-Sheldon syndrome: a case report.
BACKGROUND Freeman-Sheldon syndrome is a rare hereditary disorder characterised by three basic abnormalities, namely microstomia, camptodactyly with ulnar deviation of the fingers, and clubfoot. The majority of these patients have microstomia and dental crowding, making oral hygiene difficult and increasing the risk of caries. Treatment of these patients requires a coordinated effort by a team ...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2009
ISSN: 1750-1172
DOI: 10.1186/1750-1172-4-11