 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 |
|---|
| 2021 | 2 | 0 | 2 | | 2020 | 2 | 0 | 2 | | 2019 | 4 | 4 | 8 | | 2018 | 4 | 3 | 7 | | 2017 | 3 | 1 | 4 | | 2016 | 4 | 2 | 6 | | 2015 | 3 | 2 | 5 | | 2014 | 8 | 1 | 9 | | 2013 | 6 | 3 | 9 | | 2012 | 5 | 2 | 7 | | 2011 | 2 | 3 | 5 | | 2010 | 2 | 3 | 5 | | 2009 | 1 | 3 | 4 | | 2008 | 3 | 2 | 5 | | 2007 | 6 | 2 | 8 | | 2006 | 4 | 2 | 6 | | 2005 | 2 | 0 | 2 | | 2004 | 6 | 0 | 6 | | 2003 | 2 | 1 | 3 | | 2002 | 0 | 1 | 1 | | 2001 | 1 | 1 | 2 | | 2000 | 1 | 0 | 1 | | 1999 | 1 | 0 | 1 | | 1998 | 2 | 0 | 2 | | 1997 | 1 | 0 | 1 | | 1996 | 2 | 0 | 2 | | 1995 | 1 | 0 | 1 | | 1994 | 1 | 0 | 1 | | 1993 | 0 | 1 | 1 | | 1992 | 1 | 0 | 1 | | 1990 | 1 | 0 | 1 | | 1989 | 0 | 1 | 1 |
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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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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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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, Fernández-Jaén 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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Alsoufi B, Mori M, Gillespie S, Schlosser B, Slesnick T, Kogon B, Kim D, Sachdeva R, Kanter K. Impact of Patient Characteristics and Anatomy on Results of Norwood Operation for Hypoplastic Left Heart Syndrome. Ann Thorac Surg. 2015 Aug; 100(2):591-8.
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Lam H, Dare S, Nguyen T, Austin T. Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome. A A Case Rep. 2015 Apr 01; 4(7):95-6.
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Samanta D, Willis E. Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. Acta Neurol Belg. 2015 Dec; 115(4):779-82.
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Koleilat I, Eidt J. A rare combination of atypical cerebral vascular anatomy. Vascular. 2015 Oct; 23(5):539-41.
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Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
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Ravi A, Hegde S, Greenberg B. Tetralogy of Fallot with double aortic arch and discontinuous left pulmonary artery. Int J Cardiovasc Imaging. 2015 Feb; 31(2):427-8.
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Starr LJ, Truemper EJ, Pickering DL, Sanger WG, Olney AH. Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications. Am J Med Genet A. 2014 Aug; 164A(8):2020-4.
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Zarate YA, Bell C, Schaefer GB. Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. Cleft Palate Craniofac J. 2015 Mar; 52(2):237-9.
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Sellars EA, Bosanko KA, Lepard T, Garnica A, Schaefer GB. A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. Semin Pediatr Neurol. 2014 Jun; 21(2):84-7.
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Hegde S, Greenberg B. Right aortic arch with aberrant left subclavian artery and coarctation. Int J Cardiovasc Imaging. 2014 Apr; 30(4):781-2.
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Pua HH, Krishnamurthi S, Farrell J, Margeta M, Ursell PC, Powers M, Slavotinek AM, Jeng LJ. Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. Am J Med Genet A. 2014 Jan; 164A(1):237-42.
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Greenberg SB, Dyamenahalli U. Dynamic pulmonary computed tomography angiography: a new standard for evaluation of combined airway and vascular abnormalities in infants. Int J Cardiovasc Imaging. 2014 Feb; 30(2):407-14.
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Hinson D, Poteet P, Bower C. Duplicated facial nerve trunk with a first branchial cleft cyst. Laryngoscope. 2014 Mar; 124(3):662-4.
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Cramer JW, Bartz PJ, Simpson PM, Zangwill SD. The spectrum of congenital heart disease and outcomes after surgical repair among children with Turner syndrome: a single-center review. Pediatr Cardiol. 2014 Feb; 35(2):253-60.
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Cilingiroglu M, Marmagkiolis K, Wholey M. Successful recanalization of a left common iliac artery chronic total occlusion adjacent to an ectopic renal artery at the aortoiliac bifurcation. Turk Kardiyol Dern Ars. 2013 Jun; 41(4):347-50.
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Pieles GE, Ofoe V, Morgan GJ. Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams-Beuren syndrome. Congenit Heart Dis. 2014 May-Jun; 9(3):E85-9.
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Deacon BS, Lowery RS, Phillips PH, Schaefer GB. Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. J AAPOS. 2013 Jun; 17(3):332-3.
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Beaumont C, Linam LE, Dajani NK. Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. Fetal Diagn Ther. 2013; 34(2):131-2.
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