 Abnormalities, Multiple
"Abnormalities, Multiple" 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.
No definition found.
| Descriptor ID |
D000015
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| MeSH Number(s) |
C16.131.077
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Abnormalities, Multiple".
Below are MeSH descriptors whose meaning is more specific than "Abnormalities, Multiple".
This graph shows the total number of publications written about "Abnormalities, Multiple" by people in UAMS Profiles by year, and whether "Abnormalities, Multiple" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2024 | 1 | 3 | 4 | | 2023 | 1 | 0 | 1 | | 2021 | 2 | 0 | 2 | | 2020 | 2 | 0 | 2 | | 2019 | 4 | 4 | 8 | | 2018 | 4 | 3 | 7 | | 2017 | 3 | 1 | 4 | | 2016 | 3 | 2 | 5 | | 2015 | 3 | 2 | 5 | | 2014 | 8 | 1 | 9 | | 2013 | 6 | 2 | 8 | | 2012 | 5 | 2 | 7 | | 2011 | 1 | 3 | 4 | | 2010 | 2 | 3 | 5 | | 2009 | 1 | 2 | 3 | | 2008 | 2 | 3 | 5 | | 2007 | 6 | 2 | 8 | | 2006 | 3 | 2 | 5 | | 2005 | 2 | 0 | 2 | | 2004 | 5 | 0 | 5 | | 2003 | 1 | 1 | 2 | | 2002 | 0 | 1 | 1 | | 2001 | 0 | 1 | 1 | | 2000 | 2 | 0 | 2 | | 1999 | 1 | 0 | 1 | | 1998 | 1 | 0 | 1 | | 1997 | 1 | 0 | 1 | | 1996 | 2 | 0 | 2 | | 1995 | 2 | 0 | 2 | | 1994 | 1 | 0 | 1 | | 1993 | 0 | 1 | 1 | | 1992 | 1 | 0 | 1 | | 1990 | 2 | 0 | 2 |
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Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles over the past ten years.
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Shashi KK, Garg H, Yu RN, Chow JS. Zinner syndrome in pediatric age group: An underdiagnosed entity. J Pediatr Urol. 2024 Aug; 20(4):705.e1-705.e7.
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Krishnan V, Jaganathan S, Jayappa S, Glasier C, Choudhary A, Ramakrishnaiah R, Murphy J. Clinical and radiological evaluation of caudal regression syndrome. Pediatr Radiol. 2024 08; 54(9):1451-1461.
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Metry D, Copp HL, Rialon KL, Iacobas I, Baselga E, Dobyns WB, Drolet B, Frieden IJ, Garzon M, Haggstrom A, Hanson D, Hollenbach L, Keppler-Noreuil KM, Maheshwari M, Siegel DH, Waseem S, Dias M. Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome. J Pediatr. 2024 Sep; 272:114101.
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Wayhelova M, Vallova V, Broz P, Mikulasova A, Smetana J, Dynkova Filkova H, Machackova D, Handzusova K, Gaillyova R, Kuglik P. Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders. Orphanet J Rare Dis. 2024 Feb 06; 19(1):41.
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Buijsse N, Jansen FE, Ockeloen CW, van Kempen MJA, Zeidler S, Willemsen MH, Scarano E, Monticone S, Zonneveld-Huijssoon E, Low KJ, Bayat A, Sisodiya SM, Samanta D, Lesca G, de Jong D, Giltay JC, Verbeek NE, Kleefstra T, Brilstra EH, Vlaskamp DRM. Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome. Epilepsia Open. 2023 Dec; 8(4):1300-1313.
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Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). J Med Genet. 2022 Sep; 59(9):865-877.
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Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. Am J Med Genet A. 2022 01; 188(1):104-115.
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Said SM, Marey G, Joy B, Griselli M. Off-Pump "Clamp and Sew" Extracardiac Fontan With Inverted Bifurcated Graft for Dextrocardia With Heterotaxy Syndrome. World J Pediatr Congenit Heart Surg. 2020 09; 11(5):636-640.
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Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68.
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Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Posey JE, Lupski JR, Beaudet AL, Wangler MF. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
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Stallings EB, Isenburg JL, Short TD, Heinke D, Kirby RS, Romitti PA, Canfield MA, O'Leary LA, Liberman RF, Forestieri NE, Nembhard WN, Sandidge T, Nestoridi E, Salemi JL, Nance AE, Duckett K, Ramirez GM, Shan X, Shi J, Lupo PJ. Population-based birth defects data in the United States, 2012-2016: A focus on abdominal wall defects. Birth Defects Res. 2019 11 01; 111(18):1436-1447.
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Cotton AP, Gokarakonda S, Caffrey AR, Zarate YA, Kumar N. Behavioral phenotype and sleep problems in SATB2-associated syndrome. Dev Med Child Neurol. 2020 07; 62(7):827-832.
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Thomason A, Pankey E, Nutt B, Caffrey AR, Zarate YA. Speech, language, and feeding phenotypes of SATB2-associated syndrome. Clin Genet. 2019 12; 96(6):485-492.
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Harada Y, Ramakrishnaiah R, Arya K, Samanta D. Extensive reversible myelopathy secondary to acute quadriventricular noncommunicating hydrocephalus. Childs Nerv Syst. 2019 11; 35(11):2023-2026.
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Margalit A, Sponseller PD, McCarthy RE, Pawelek JB, McCullough L, Karlin LI, Shirley ED, Schwend RM, Samdani AF, Akbarnia BA. Growth-Friendly Spine Surgery in Escobar Syndrome. J Pediatr Orthop. 2019 Aug; 39(7):e506-e513.
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Rajab TK, Kim T, Keller S, Mallidi H. Management of a young patient with dextrocardia, atrial septal defect, and Eisenmenger syndrome with venous-venous extracorporeal membrane oxygenation and heart-lung transplantation. J Card Surg. 2019 Oct; 34(10):1114-1116.
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Scott J, Adams C, Beetstra S, Zarate YA. SATB2-associated syndrome (SAS) and associated dental findings. Spec Care Dentist. 2019 Mar; 39(2):220-224.
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Mathews CS, Bumpass DB, McCullough FL, McCarthy RE. Expansion Thoracoplasty as a Life-Saving Procedure in an Adolescent With Severe Spinal Deformity and Sacral Agenesis. Spine Deform. 2019 01; 7(1):171-175.
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Lee HS, Dickinson JE, Tan JK, Nembhard W, Bower C. Congenital diaphragmatic hernia: Impact of contemporary management strategies on perinatal outcomes. Prenat Diagn. 2018 12; 38(13):1004-1012.
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Golinko MS, Pemberton JD, Phillips J, Johnson A, Hartzell LD. The Arkansas Tessier Number 3 Cleft Experience: Soft Tissue and Skeletal Findings With Primary Surgical Management: Four-Step Approach. J Craniofac Surg. 2018 Oct; 29(7):1834-1841.
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Worley ML, Patel KG, Kilpatrick LA. Cleft Lip and Palate. Clin Perinatol. 2018 12; 45(4):661-678.
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Hartzell LD, Chinnadurai S. Microtia and Related Facial Anomalies. Clin Perinatol. 2018 12; 45(4):679-697.
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Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. Eur J Hum Genet. 2018 09; 26(9):1272-1281.
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Robbins A, Zarate YA, Hartzell LD. Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome. Cleft Palate Craniofac J. 2019 01; 56(1):123-126.
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Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935.
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Flor J, Bellando J, Lopez M, Shui A. Developmental functioning and medical Co-morbidity profile of children with complex and essential autism. Autism Res. 2017 Aug; 10(8):1344-1352.
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Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA. Normal IQ is possible in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2017 Aug; 173(8):2097-2100.
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Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. Am J Med Genet A. 2017 Mar; 173(3):790-800.
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Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. JAMA Otolaryngol Head Neck Surg. 2017 02 01; 143(2):168-177.
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Zarate YA, Fish JL. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A. 2017 Feb; 173(2):327-337.
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Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF. Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability. Am J Med Genet A. 2017 Jan; 173(1):221-224.
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Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. Am J Med Genet A. 2016 08; 170(8):1967-73.
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Alsoufi B, Schlosser B, McCracken C, Kogon B, Kanter K, Border W, Sachdeva R. Current Outcomes of Surgical Management of?Aortopulmonary Window and Associated Cardiac Lesions. Ann Thorac Surg. 2016 Aug; 102(2):608-14.
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Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fern?ndez-Ja?n A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet A. 2016 Mar; 170(3):670-5.
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Swota A, Lew CD, Hester DM. What Is a Parent to Do?: The Case of Baby G. Perspect Biol Med. 2016; 58(3):320-1.
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Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet. 2015 Sep 03; 97(3):457-64.
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Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa'ad AH, Roehrs PA, Bernstein JA. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. J Allergy Clin Immunol. 2016 Jan; 137(1):179-187.e10.
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Hiebert JC, Johnson AB, Tran HH, Yu Z, Glade RS. Congenital Tongue Mass With Concomitant Cleft Palate and Bifid Tongue: A Case Report and Review of the Literature. Cleft Palate Craniofac J. 2016 03; 53(2):245-8.
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