Freeman-Sheldon Syndrome
نویسندگان
چکیده
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 present one such case that succumbed to anesthesia related complication.
منابع مشابه
[Recessive type of Freeman-Sheldon syndrome - report of two affected siblings]
OBJECTIVE: To share knowledge and information about the peculiarities of the Freeman-Sheldon syndrome, especially concerning the high risk of recurrence of its recessive type in siblings, and to stress the importance of genetic counseling for families after the birth of an affected child. DESCRIPTION: The authors describe and comment two pediatric cases of the Freeman-Sheldon syndrome in siblin...
متن کاملSevere Skew Foot Deformity in a Patient With Freeman-Sheldon Syndrome
UNLABELLED We report on a 3-year-old boy with the full phenotypic features of Freeman Sheldon syndrome (FSS). Severe skew foot deformity has been recognized as additional skeletal abnormality. Parents were first degree cousins, raising the possibility of autosomal recessive pattern of inheritance. To the best of our knowledge this is the first report of severe skew foot deformity in a patient w...
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 ...
متن کاملFreeman-Sheldon syndrome: a functional and cosmetic correction of microstomia.
Freeman-Sheldon syndrome (FSS) is a rare form of multiple congenital contracture syndrome and is the most severe form of distal arthrogryposis. Described in 1938 by Freeman and Sheldon, it is also referred to as distal arthrogryposis type 2A, craniocarpotarsal dysplasia or whistling faceewindmill vane hand syndrome. Its main form of inheritance is autosomal dominant, but it can also be autosoma...
متن کاملSurgical and prosthodontic rehabilitation in a patient with Freeman-Sheldon syndrome.
Dental and prosthetic rehabilitation possess significant challenges in patients who have Freeman-Sheldon syndrome. Microsomia is one of the main diagnostic criteria for Freeman-Sheldon syndrome, and it creates difficulty in working in the intraoral cavity. Most patients with small orifice often have difficulties in oral hygiene maintenance, and it gives rise to loss of some of the teeth. It inc...
متن کاملFreeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
We report a case of a male baby who has characteristic signs of Freeman-Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the distinctive clinical characteristics of the syndrome and confirmed by genetic analysis that showed a de novo missense mutation c.2015G>A (p.Arg672His) of the MYH3 gene. We highlight the different fe...
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