Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Brachysyndactyly"'
Publikováno v:
Medical Journal of Dr. D.Y. Patil University, Vol 7, Iss 1, Pp 82-84 (2014)
Poland syndrome is a rare congenital disorder characterized by ipsilateral absence of pectoralis major muscle. This syndrome is associated with various anomalies such as ipsilateral syndactyly, brachidactyly, dextrocardia, herniation of lung, underde
Externí odkaz:
https://doaj.org/article/5da705c1eaeb47c8ac59f6043d01a376
Publikováno v:
Hand Surgery. 20:237-250
The aim of this study is to introduce the classification of Swanson for congenital anomalies of upper limb modified by the Japanese Society for Surgery of the Hand (the JSSH modification) in English. The Swanson classification has been widely accepte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1cea229aa41e68ce2975893d88bf404
https://doi.org/10.1142/s0218810415300041
https://doi.org/10.1142/s0218810415300041
Akademický článek
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Publikováno v:
Journal of the Neurological Sciences. 405:326
A 49-year-old woman, was referred for electroneuromyography examination for paresthesias, pain and thoracic outlet syndrome hypothesis. The motor and sensory nerve conduction and electromyography were normal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::518e67da47de9ca1f52762344596fcf9
https://doi.org/10.1016/j.jns.2019.10.1440
https://doi.org/10.1016/j.jns.2019.10.1440
Autor:
Harold C. Urschel
Publikováno v:
Seminars in Thoracic and Cardiovascular Surgery. 21:89-94
Poland syndrome is characterized by hypoplasia or absence of the breast or nipple, hypoplasia of subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, absence of the pectoralis minor muscle, and absence of costal ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11d13b9b32c021c7a65b64c1c01d5b98
https://doi.org/10.1053/j.semtcvs.2009.03.004
https://doi.org/10.1053/j.semtcvs.2009.03.004
Autor:
Donna Wallerstein, Kenneth Lieberman, Robert Wallerstein, Valerie L. Johnson, Ann Marie Augustyn, Leslie Elton, Beatriz Tejeiro
Publikováno v:
American Journal of Medical Genetics Part A. :1316-1320
Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. To date, we know of two reported families with five affected individuals. We report on one of the youngest case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::792dabad8468e05b0b27e9889a5c5b89
https://doi.org/10.1002/ajmg.a.31125
https://doi.org/10.1002/ajmg.a.31125
Akademický článek
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Autor:
Richard G. Boles, James L. McGrath, Drucilla J. Roberts, Lisa H. Gibson, Teresa L. Yang-Feng, Barbara R. Pober, Charla R. Willis
Publikováno v:
American Journal of Medical Genetics. 55:155-160
We describe a newborn boy with multiple anomalies, including bilateral split foot and an interstitial deletion of chromosome 2 (q24.2-q31.1). Four additional cases in 2 families involving similar deletions have been reported. Bilateral digital anomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ab8e753d87aa6aa9691bffba625723
https://doi.org/10.1002/ajmg.1320550204
https://doi.org/10.1002/ajmg.1320550204
Publikováno v:
Annales de Chirurgie de la Main et du Membre Supérieur. 14:253-263
Based on a series of 29 patients with median clefts of the hand (29 hands), the authors define the place of this malformation, its various clinical features and the therapeutic indications. The series consists of 13 boys and 7 girls, 9 bilateral case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e1549551840cabfffe678fde0b15f28
https://doi.org/10.1016/s0753-9053(05)80404-1
https://doi.org/10.1016/s0753-9053(05)80404-1
Autor:
Roberto Gasparotti, Elisabetta Del Zotto, M. Frigerio, Loris Poli, Irene Volonghi, Paolo Costa, Gina Gregorini, Guido Jeannin, Alessandro Padovani, Alessandro Pezzini, Dikran Mardighian, Alessia Giossi
Publikováno v:
American journal of medical genetics. Part A. (11)
Grange syndrome is a disorder characterized by arterial occlusive disease, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. It was first described in four members of the same family and in two spo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d4093f6cfa3ff797ad473beb5d4a51
https://pubmed.ncbi.nlm.nih.gov/22987684
https://pubmed.ncbi.nlm.nih.gov/22987684