title: [Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study].
abstract: Freeman-Sheldon syndrome is characterized by typical dysmorphic features of the face (microstomia with putting lips and H-shaped dimpling of the chin, giving the appearance of a whistling face) and symmetrical hands and feet defects (camptodactyly, joint contractures). The intelligence quotient is usually within the normal range. Mutations in the MYH3 gene at 17p13 have been shown to cause the syndrome, inherited as an autosomal dominant trait. Two patients with clinical diagnosis of Freeman- Sheldon syndrome, confirmed by molecular study were described in this article. Additionally, clinical aspects, differential diagnosis and genetic basis of the disease were described as well as medical problems concerning patients with Freeman-Sheldon syndrome were discussed such as anesthetic aspects, malignant hyperthermia and pulmonary complications after surgery. The authors highlight the significance of dysmorphic features in patients with developmental delay and congenital defects as well as indicate the role of multidisciplinary approach in the diagnostic and therapeutic process.
authors.affiliation: Katedra i Zakład Genetyki AM, ul. Marcinkowskiego 1, 50-368 Wrocław. robert.smigiel@am.wroc.pl
authors.forename: Robert
authors.initials: R
authors.lastname: Smigieł
authors.forename: Błażej
authors.initials: B
authors.lastname: Misiak
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Przybył
authors.forename: Marek
authors.initials: M
authors.lastname: Michalski
authors.forename: Maria M
authors.initials: MM
authors.lastname: Sąsiadek
mesh_terms: D003394:Craniofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D018450:Disease Progression; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male