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[Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study].
Med Wieku Rozwoj 2011 Oct-Dec; 15(4):451-7MW

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+Show Affiliations

Katedra i Zakład Genetyki AM, ul. Marcinkowskiego 1, 50-368 Wrocław. robert.smigiel@am.wroc.plNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

pol

PubMed ID

22516700

Citation

Smigieł, Robert, et al. "[Freeman-Sheldon Syndrome - Phenotype and Course of Disease On the Base of Two Cases Confirmed By Molecular Study]." Medycyna Wieku Rozwojowego, vol. 15, no. 4, 2011, pp. 451-7.
Smigieł R, Misiak B, Przybył K, et al. [Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study]. Med Wieku Rozwoj. 2011;15(4):451-7.
Smigieł, R., Misiak, B., Przybył, K., Michalski, M., & Sąsiadek, M. M. (2011). [Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study]. Medycyna Wieku Rozwojowego, 15(4), pp. 451-7.
Smigieł R, et al. [Freeman-Sheldon Syndrome - Phenotype and Course of Disease On the Base of Two Cases Confirmed By Molecular Study]. Med Wieku Rozwoj. 2011;15(4):451-7. PubMed PMID: 22516700.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Freeman-Sheldon syndrome - phenotype and course of disease on the base of two cases confirmed by molecular study]. AU - Smigieł,Robert, AU - Misiak,Błażej, AU - Przybył,Katarzyna, AU - Michalski,Marek, AU - Sąsiadek,Maria M, PY - 2012/4/21/entrez PY - 2011/1/1/pubmed PY - 2012/5/16/medline SP - 451 EP - 7 JF - Medycyna wieku rozwojowego JO - Med Wieku Rozwoj VL - 15 IS - 4 N2 - 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. UR - https://www.unboundmedicine.com/medline/citation/22516700/[Freeman_Sheldon_syndrome___phenotype_and_course_of_disease_on_the_base_of_two_cases_confirmed_by_molecular_study]_ L2 - http://medwiekurozwoj.pl/articles/2011-4-4.html DB - PRIME DP - Unbound Medicine ER -