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Freeman-Sheldon syndrome. A case report and review of the literature.
Chir Organi Mov. 2008 Sep; 92(2):127-31.CO

Abstract

The Authors describe a case of Freeman-Sheldon Syndrome, a rare congenital autosomal dominant disorder (gene mapped on chromosome 11p15.5) characterized by microstomia with crinkled lips, camptodactyly with ulnar deviation of the fingers and equinus-varus-supine clubfoot. The autosomal recessive form, even rarer and difficult to recognize, has a more severe clinical manifestation. The symptomatology is worsened by breathing and swallowing disorders due to the small orifices of the mouth and nose, which sometimes require tracheotomy to avoid obstruction of the airways.

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Authors+Show Affiliations

Ferrari D
Divisione di Ortopedia e Traumatologia Pediatrica, Istituto Ortopedico Rizzoli, Via Pupilli, 1, 40136, Bologna, Italy. daniele.ferrari@ior.it
Bettuzzi C
No affiliation info available
Donzelli O
No affiliation info available

MeSH

Abnormalities, MultipleArthrogryposisBracesBronchopneumoniaChild, PreschoolClubfootFaceGenes, RecessiveHand Deformities, CongenitalHip Dislocation, CongenitalHumansKyphosisMicrostomiaMuscular AtrophyReoperationRespiratory InsufficiencyScoliosisSyndromeTracheotomy

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

18677448

Citation

Ferrari, Daniele, et al. "Freeman-Sheldon Syndrome. a Case Report and Review of the Literature." La Chirurgia Degli Organi Di Movimento, vol. 92, no. 2, 2008, pp. 127-31.
Ferrari D, Bettuzzi C, Donzelli O. Freeman-Sheldon syndrome. A case report and review of the literature. Chir Organi Mov. 2008;92(2):127-31.
Ferrari, D., Bettuzzi, C., & Donzelli, O. (2008). Freeman-Sheldon syndrome. A case report and review of the literature. La Chirurgia Degli Organi Di Movimento, 92(2), 127-31. https://doi.org/10.1007/s12306-008-0053-4
Ferrari D, Bettuzzi C, Donzelli O. Freeman-Sheldon Syndrome. a Case Report and Review of the Literature. Chir Organi Mov. 2008;92(2):127-31. PubMed PMID: 18677448.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Freeman-Sheldon syndrome. A case report and review of the literature. AU - Ferrari,Daniele, AU - Bettuzzi,Camilla, AU - Donzelli,Onofrio, Y1 - 2008/08/01/ PY - 2008/04/01/received PY - 2008/06/16/accepted PY - 2008/8/5/pubmed PY - 2009/2/25/medline PY - 2008/8/5/entrez SP - 127 EP - 31 JF - La Chirurgia degli organi di movimento JO - Chir Organi Mov VL - 92 IS - 2 N2 - The Authors describe a case of Freeman-Sheldon Syndrome, a rare congenital autosomal dominant disorder (gene mapped on chromosome 11p15.5) characterized by microstomia with crinkled lips, camptodactyly with ulnar deviation of the fingers and equinus-varus-supine clubfoot. The autosomal recessive form, even rarer and difficult to recognize, has a more severe clinical manifestation. The symptomatology is worsened by breathing and swallowing disorders due to the small orifices of the mouth and nose, which sometimes require tracheotomy to avoid obstruction of the airways. SN - 1973-2538 UR - https://www.unboundmedicine.com/medline/citation/18677448/Freeman_Sheldon_syndrome__A_case_report_and_review_of_the_literature_ L2 - https://dx.doi.org/10.1007/s12306-008-0053-4 DB - PRIME DP - Unbound Medicine ER -