Hand Deformities, Congenital
"Hand Deformities, Congenital" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
MeSH Number(s)
C05.390.408
C05.660.585.988.425
C16.131.621.585.425
Concept/Terms
Hand Deformities, Congenital- Hand Deformities, Congenital
- Congenital Hand Deformity
- Deformity, Congenital Hand
- Hand Deformity, Congenital
- Congenital Hand Deformities
- Deformities, Congenital Hand
Below are MeSH descriptors whose meaning is more general than "Hand Deformities, Congenital".
Below are MeSH descriptors whose meaning is more specific than "Hand Deformities, Congenital".
This graph shows the total number of publications written about "Hand Deformities, Congenital" by people in Harvard Catalyst Profiles by year, and whether "Hand Deformities, Congenital" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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1994 | 4 | 1 | 5 |
1995 | 4 | 0 | 4 |
1996 | 1 | 0 | 1 |
1997 | 2 | 1 | 3 |
1998 | 0 | 1 | 1 |
1999 | 2 | 2 | 4 |
2000 | 1 | 1 | 2 |
2001 | 1 | 1 | 2 |
2002 | 2 | 0 | 2 |
2003 | 1 | 0 | 1 |
2004 | 2 | 0 | 2 |
2005 | 3 | 0 | 3 |
2006 | 0 | 1 | 1 |
2007 | 1 | 0 | 1 |
2008 | 3 | 0 | 3 |
2009 | 1 | 1 | 2 |
2010 | 2 | 2 | 4 |
2011 | 2 | 1 | 3 |
2012 | 4 | 2 | 6 |
2013 | 3 | 1 | 4 |
2014 | 1 | 2 | 3 |
2015 | 3 | 2 | 5 |
2016 | 3 | 0 | 3 |
2017 | 3 | 0 | 3 |
2018 | 3 | 0 | 3 |
2019 | 2 | 0 | 2 |
2020 | 1 | 0 | 1 |
2021 | 1 | 1 | 2 |
2022 | 2 | 2 | 4 |
2023 | 1 | 0 | 1 |
Below are the most recent publications written about "Hand Deformities, Congenital" by people in Profiles.
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Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis. Radiographics. 2023 05; 43(5):e220067.
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Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response. Pediatr Dev Pathol. 2022 Nov-Dec; 25(6):611-623.
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Hypothesis: Symbrachydactyly. Am J Med Genet A. 2022 Nov; 188(11):3236-3241.
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An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 Oct; 188(10):3084-3088.
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8 out of 10 patients do well after surgery for tarsal coalitions: A systematic review on 1284 coalitions. Foot Ankle Surg. 2022 Oct; 28(7):1110-1119.
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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Am J Med Genet A. 2022 05; 188(5):1384-1395.
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Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder. Otol Neurotol. 2021 09 01; 42(8):e1143-e1151.
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Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification. Geroscience. 2021 04; 43(2):459-461.
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Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report. J Pediatr Hematol Oncol. 2020 04; 42(3):e177-e180.
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Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. Am J Med Genet A. 2020 02; 182(2):328-337.