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.
Links
MeSH
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 -