Zobrazeno 1 - 10
of 304
pro vyhledávání: '"Freeman‐Sheldon syndrome"'
Publikováno v:
JA Clinical Reports, Vol 9, Iss 1, Pp 1-4 (2023)
Abstract Background Freeman-Sheldon syndrome (FSS) is a rare disorder characterized by specific deformities of the extremities and face. There have been no reports of open-heart surgery in pediatric patients with FSS. Case presentation We present the
Externí odkaz:
https://doaj.org/article/2ed5168534ad4726abaa9a483a10832a
Autor:
T. V. Kozhanova, S. S. Zhilina, T. I. Meshсheryakova, N. P. Prokopyeva, A. G. Prityko, N. N. Zavadenko
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 14, Iss 2, Pp 214-220 (2022)
The clinical case of a patient with congenital contractures of the lower and upper limbs, face, seizures, facial dysmorphias, motor disorders and psychomotor development delay is presented. The proband with Freeman–Sheldon syndrome had no mutations
Externí odkaz:
https://doaj.org/article/d61d98af154d4c0ca2e75248fdc73c27
Autor:
Tsung-Mu Wu, Lin-Shaw Chin
Publikováno v:
Formosan Journal of Surgery, Vol 54, Iss 2, Pp 66-69 (2021)
Freeman-Sheldon syndrome (FSS) is a very rare genetic disorder, also called “whistling-face syndrome.” Patients with this condition have distinctive facial appearance of small mouth and pursed lips, and skeletal malformations such as talipes equi
Externí odkaz:
https://doaj.org/article/1d915fd47b824097be76903ae2147baa
Publikováno v:
Clinical and Experimental Obstetrics & Gynecology, Vol 47, Iss 6, Pp 978-982 (2020)
Freeman-Sheldon syndrome, also known as Whistling Face syndrome, is a rare disorder associated with multiple congenital contractures. In this report, we present the course of the disease from the neonatal period to adulthood in one female patient and
Externí odkaz:
https://doaj.org/article/d33ecbc540624f9c859eed5163c7d8fa
Publikováno v:
Annals of Rehabilitation Medicine, Vol 44, Iss 2, Pp 165-170 (2020)
Freeman-Sheldon syndrome (FSS) is a rare distal arthrogryposis syndrome. There are few reports on the respiratory insufficiency of FSS. Additionally, there is no detailed information on pulmonary functional evaluation. A 17-year-old male patient with
Externí odkaz:
https://doaj.org/article/b40803a103a8499384936f8c8737ddb1
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Clinical description Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips)
Externí odkaz:
https://doaj.org/article/cff9798b12684fef8f0ccef77e71d7d2
Autor:
Aiji Sato (Boku), Yoshiki Sento, Tatsuya Hasegawa, Kosuke Tsutsumi, Yuji Kamimura, MinHye So, Eisuke Kako, Kazuya Sobue
Publikováno v:
Clinical Case Reports, Vol 9, Iss 6, Pp n/a-n/a (2021)
Abstract In the anesthetic management in this case was how to manage the patient without causing respiratory depression and respiratory muscle fatigue.
Externí odkaz:
https://doaj.org/article/9a8122b2a0d94a598ffd3c858731af64
Akademický článek
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Publikováno v:
Annals of Rehabilitation Medicine, Vol 44, Iss 2, Pp 165-170 (2020)
Annals of Rehabilitation Medicine
Annals of Rehabilitation Medicine
Freeman-Sheldon syndrome (FSS) is a rare distal arthrogryposis syndrome. There are few reports on the respiratory insufficiency of FSS. Additionally, there is no detailed information on pulmonary functional evaluation. A 17-year-old male patient with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23682c9ec86b24c184cc6bdc8765619b
http://www.e-arm.org/upload/pdf/arm-2020-44-2-165.pdf
http://www.e-arm.org/upload/pdf/arm-2020-44-2-165.pdf
Autor:
Bijumon, Dexton A Johns
Publikováno v:
Journal of Indian Society of Pedodontics and Preventive Dentistry, Vol 31, Iss 3, Pp 184-187 (2013)
Freeman-Sheldon syndrome is a rare progressive myopathic disorder affecting the face, chest, and limbs. It is characterized by three basic abnormalities: microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers, and talipes eq
Externí odkaz:
https://doaj.org/article/71b7bde868fb4b59b486c3e23512c5de