Synonyms: Freeman-Sheldon syndrome, Whistling face syndrome, distal arthrogryposis type 2A, craniocarpotarsal dystrophy, craniocarpotarsal dysplasia, cranio-facio-corporal syndrome

Poling MI, Dufresne CR, Maxwell LG, Münster T (2019)

Publication Type: Journal article

Publication year: 2019

Journal

Anästhesiologie & Intensivmedizin Aktiv Dr. und Verl.

Book Volume: 60

Pages Range: S8-S17

Journal Issue: 1

DOI: 10.19224/ai2019.S008

Abstract

Disease summary: Freeman-Burian syndrome (FBS) is a congenital myopathic craniofacial syndrome, with extra-craniofacial features in most cases. Genotype-correlated clinical diagnostic criteria for FBS include: microstomia, whistling face appearance (pursed lips), H or V-shaped chin defect, prominent nasolabial folds, and multiple contractures of the hands and feet. Limb malformations accepted in the diagnostic criteria for FBS include two or more of the following: talipes equinovarus, metatarsus varus, vertical talus, talipes equinovalgus, calcaneovalgus, camptodactyly, ulnar deviation of wrists and fingers, overlapping fingers or toes, and hypoplastic or absent interphalangeal creases. Spinal deformities, metabolic and gastroenterological problems, other craniofacial malformations, and visual and auditory impairments are frequent findings in FBS. Some individuals present with minimal malformation; rarely patients have died during infancy as a result of severe respiratory complications. Autosomal dominant inheritance is established, but expression is often from new allelic variation. There is no apparent sex, ethnic, or geographical preference, and environmental and parental factors are not implicated in pathogenesis.

Authors with CRIS profile

Tino Münster Department of Anaesthesiology

Involved external institutions

Perelman School of Medicine University of Pennsylvania US United States (USA) (US) Georgetown University US United States (USA) (US) Freeman Sheldon Research Group (FSRG) US United States (USA) (US)

How to cite

APA:

Poling, M.I., Dufresne, C.R., Maxwell, L.G., & Münster, T. (2019). Synonyms: Freeman-Sheldon syndrome, Whistling face syndrome, distal arthrogryposis type 2A, craniocarpotarsal dystrophy, craniocarpotarsal dysplasia, cranio-facio-corporal syndrome. Anästhesiologie & Intensivmedizin, 60(1), S8-S17. https://dx.doi.org/10.19224/ai2019.S008

MLA:

Poling, Mikaela I., et al. "Synonyms: Freeman-Sheldon syndrome, Whistling face syndrome, distal arthrogryposis type 2A, craniocarpotarsal dystrophy, craniocarpotarsal dysplasia, cranio-facio-corporal syndrome." Anästhesiologie & Intensivmedizin 60.1 (2019): S8-S17.

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