Freeman-Sheldon syndrome: a case report.
نویسندگان
چکیده
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 of specialists, including a paediatrician, an anaesthesiologist, a plastic surgeon, a paediatric dentist, and an orthodontist. Herein, we describe dental problems of a child with Freeman-Sheldon syndrome and the treatment procedures performed.
منابع مشابه
Freeman–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...
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 کامل[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 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: report of three cases and the anaesthetic implications.
The Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia. Fibrotic contractures of the facial muscles result in the characteristic "whistling face". Difficulties with intubation may be attributed in part to microstomia and micrognathia. In addition to other deformities, limb myopathy results in ulnar flexion contractures of the hand and equinovarus/valgus deformities of the feet...
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ورودعنوان ژورنال:
- European journal of paediatric dentistry : official journal of European Academy of Paediatric Dentistry
دوره 16 4 شماره
صفحات -
تاریخ انتشار 2003