Zobrazeno 1 - 10 of 2 715 pro vyhledávání: '"velocardiofacial syndrome"'
1
Akademický článek
2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report
Autor: Estephania Candelo, Sebastian Giraldo-Ocampo, Julian Nevado, Pablo Lapunzina, Harry Pachajoa
Publikováno v: BMC Pediatrics, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Background The 2q31 deletion results in a distinct phenotype characterized by varying degrees of developmental delay, short stature, facial dysmorphism, and variable limb defects. Dysmorphic features include microcephaly, downslanting palpeb
Externí odkaz: https://doaj.org/article/091d90f3fd75443a9802816d14013fc2
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5
Akademický článek
De novo unbalanced translocation t(15;22) (q26.2;q12) with velo-cardio-facial syndrome: A case report and review of the literature.
Autor: Gug, Cristina1 (AUTHOR), Huțanu, Delia2 (AUTHOR) hutanu_delia@yahoo.com, Vaida, Monica3 (AUTHOR), Doroş, Gabriela4 (AUTHOR), Popa, Cristina1 (AUTHOR), Stroescu, Ramona4 (AUTHOR), Furău, Gheorghe5 (AUTHOR), Furău, Cristian6 (AUTHOR), Grigoriță, Laura3 (AUTHOR), Mozos, Ioana7,8 (AUTHOR)
Publikováno v: Experimental & Therapeutic Medicine. Oct2018, Vol. 16 Issue 4, p3589-3595. 7p.
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7
Akademický článek
Variability in Clinical and Anatomical Manifestation of Velocardiofacial Syndrome Presents Diagnostic and Policy Uncertainty.
Autor: Burke, Shanna1 (AUTHOR) sburke@fiu.edu, Maramaldi, Peter2,3,4 (AUTHOR)
Publikováno v: Fetal & Pediatric Pathology. Feb2017, Vol. 36 Issue 1, p33-41. 9p.
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8
Akademický článek
Severe Hypocalcemia in the Adolescent as the Only Manifestation of 22q11 Microdeletion Syndrome: Clinical Case
Autor: Anastasia O. Vechkasova, Natalia V. Buchinskaya, Mikhail M. Kostik
Publikováno v: Вопросы современной педиатрии, Vol 22, Iss 3, Pp 271-276 (2023)
Background. In this article, we would like to describe the atypical clinical picture and course of 22q11 microdeletion syndrome in a patient without specific phenotypic signs and symptoms typical for this disease.Clinical case description. Male patie
Externí odkaz: https://doaj.org/article/d05468928b1f4de0b1adb3fb2a1a7019
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9
Akademický článek
Deep psychophysiological phenotyping of adolescents and adults with 22q11.2 deletion syndrome: a multilevel approach to defining core disease processes
Autor: David A. Parker, Joseph F. Cubells, Sid L. Imes, Gabrielle A. Ruban, Brett T. Henshey, Nicholas M. Massa, Elaine F. Walker, Erica J. Duncan, Opal Y. Ousley
Publikováno v: BMC Psychiatry, Vol 23, Iss 1, Pp 1-13 (2023)
Abstract Background 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal interstitial-deletion disorder, occurring in approximately 1 in 2000 to 6000 live births. Affected individuals exhibit variable clinical phenotypes that can incl
Externí odkaz: https://doaj.org/article/8d48718ba44943c4ae58e550e4b665b8
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10
Akademický článek
Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs.
Autor: Birgfeld, Craig B.1,2,3, Heike, Carrie L.2,3,4 carrie.heike@seattlechildrens.org, Saltzman, Babette S.2,5, Leroux, Brian G.6, Evans, Kelly N.2,3,4, Luquetti, Daniela V.3,4,5
Publikováno v: Head & Face Medicine. 3/31/2016, Vol. 12, p1-13. 13p. 1 Color Photograph, 6 Charts.
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