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[Cranio-carpo-tarsal dysplasia, whistling face type].
Ryoikibetsu Shokogun Shirizu
October 2001
Division of Clinical and Molecular Genetics, Shinshu University Hospital.
Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway.
Can J Anaesth
August 1999
Department of Anesthesia, The Hospital for Sick Children, Toronto, Ontario, Canada.
Purpose: To present a case of Freeman-Sheldon syndrome (FSS) with a previously unreported technique of anesthetic management, consisting of a malignant hyperthermia free anesthetic and laryngeal mask airway.
Clinical Features: Freeman-Sheldon syndrome (also known as whistling face syndrome, Windmill-Vane-Hand syndrome, cranio-carpo-tarsal dysplasia and distal arthrogryposis type 2) is a rare congenital disorder defined by facial and skeletal abnormalities. The three basic abnormalities are microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers and talipes equinovarus.
Whistling face syndrome: MR imaging findings in the brain.
Eur Radiol
October 1996
Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
Whistling face syndrome or cranio-carpo-tarsal dysplasia is a very rare disorder that consists of a characteristic facies and digital abnormalities. Magnetic resonance imaging investigation of the brain in this syndrome has not been reported previously. This communication describes the brain malformations in an infant with the syndrome, which covered delayed myelination, thickened and infolded cortices (cortical dysplasia), dysplastic corpus callosum, and agenesis of the inferior vermis.
View Article and Find Full Text PDF[Cranio-carpo-tarsal dysplasia syndrome (Freeman-Sheldon syndrome, whistling face syndrome)].
Z Orthop Ihre Grenzgeb
June 1987
A case of the rare Freeman-Sheldon Syndrome combined with a high luxation of the left hip is reported. The importance of differential diagnosis to arthrogryposis multiplex congenita is explained.
View Article and Find Full Text PDFNew evidence for genetic heterogeneity of the Freeman-Sheldon syndrome.
Am J Med Genet
November 1986
We report on two sibs (a boy and a girl) with the Freeman-Sheldon (FS) syndrome (also called cranio-carpo-tarsal "dysplasia" or whistling face syndrome), born to normal parents. This unusual finding may represent genetic heterogeneity, germinal mutation of an autosomal dominant gene, and an epistatic recessive gene that suppressed the expression of the abnormal gene in the father, his parents being first cousins. The last 2 mechanisms seem less probable.
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