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Dysmorphic features

MedGen UID:
473141
Concept ID:
C0432072
Congenital Abnormality
SNOMED CT: Dysmorphic features (253978002)

Recent clinical studies

Etiology

Ali MAM, Hassan AM, Saafan MA, Abdelmagid AA
Biochem Genet 2020 Feb;58(1):74-101. Epub 2019 Jul 4 doi: 10.1007/s10528-019-09931-3. PMID: 31273557
Pavone P, Corsello G, Cho SY, Pappalardo XG, Ruggieri M, Marino SD, Jin DK, Marino S, Falsaperla R
Ital J Pediatr 2019 Dec 4;45(1):159. doi: 10.1186/s13052-019-0755-2. PMID: 31801583Free PMC Article
Noordman I, Duijnhouwer A, Kapusta L, Kempers M, Roeleveld N, Schokking M, Smeets D, Freriks K, Timmers H, van Alfen-van der Velden J
Eur J Med Genet 2018 Jun;61(6):301-306. Epub 2018 Jan 12 doi: 10.1016/j.ejmg.2018.01.004. PMID: 29339108
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium., Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E
Brain 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236. PMID: 29053855
Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC
Eur J Paediatr Neurol 2013 Nov;17(6):589-99. Epub 2013 May 24 doi: 10.1016/j.ejpn.2013.04.010. PMID: 23711909

Diagnosis

Smaili W, Elalaoui SC, Zrhidri A, Raymond L, Egéa G, Taoudi M, Mouatassim SEL, Sefiani A, Lyahyai J
Eur J Med Genet 2020 Jul;63(7):103951. Epub 2020 May 18 doi: 10.1016/j.ejmg.2020.103951. PMID: 32439618
Pavone P, Corsello G, Cho SY, Pappalardo XG, Ruggieri M, Marino SD, Jin DK, Marino S, Falsaperla R
Ital J Pediatr 2019 Dec 4;45(1):159. doi: 10.1186/s13052-019-0755-2. PMID: 31801583Free PMC Article
Sajan SA, Ganesh J, Shinde DN, Powis Z, Scarano MI, Stone J, Winter S, Tang S
J Med Genet 2019 Dec;56(12):850-854. Epub 2018 Nov 26 doi: 10.1136/jmedgenet-2018-105639. PMID: 30478137
Schinagl C, Melum GR, Rødningen OK, Bjørgo K, Andresen JH
J Med Case Rep 2017 Aug 17;11(1):226. doi: 10.1186/s13256-017-1402-4. PMID: 28814329Free PMC Article
Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ
Am J Med Genet A 2016 Dec;170(12):3313-3318. Epub 2016 Aug 29 doi: 10.1002/ajmg.a.37945. PMID: 27570168

Therapy

Safdar O, El-Desoky SM, Bockenhauer D, Sebire N, Sabire N, Kari JA
Pediatr Nephrol 2014 May;29(5):839-40; quiz 837-8. Epub 2014 Jan 29 doi: 10.1007/s00467-014-2754-2. PMID: 24474578
Seggers J, Haadsma ML, Bos AF, Heineman MJ, Keating P, Middelburg KJ, van Hoften JC, Veenstra-Knol HE, Kok JH, Cobben JM, Hadders-Algra M
Early Hum Dev 2012 Oct;88(10):823-9. Epub 2012 Jul 12 doi: 10.1016/j.earlhumdev.2012.06.002. PMID: 22795820
Taha D, Bardise J, Hegab A, Bonnefond A, Marchand M, Drunat S, Vaxillaire M, Polak M
Pediatr Diabetes 2008 Jun;9(3 Pt 1):240-4. doi: 10.1111/j.1399-5448.2007.00365.x. PMID: 18547237
Kini U, Adab N, Vinten J, Fryer A, Clayton-Smith J; Liverpool and Manchester Neurodevelopmental Study Group.
Arch Dis Child Fetal Neonatal Ed 2006 Mar;91(2):F90-5. Epub 2005 Oct 20 doi: 10.1136/adc.2004.067421. PMID: 16239295Free PMC Article
Scutt LE, Chow EW, Weksberg R, Honer WG, Bassett AS
Am J Med Genet 2001 Dec 8;105(8):713-23. doi: 10.1002/ajmg.1612. PMID: 11803519Free PMC Article

Prognosis

Rips J, Mor-Shaked H, Erdin S, Yanovsky-Dagan S, Eventov-Friedman S, Harel T
Am J Med Genet A 2021 Jan;185(1):190-195. Epub 2020 Oct 7 doi: 10.1002/ajmg.a.61901. PMID: 33026150
Buratti J, Ji L, Keren B, Lee Y, Booke S, Erdin S, Kim SY, Palculict TB, Meiner V, Chae JH, Woods CG, Tam A, Héron D, Cong F, Harel T
J Med Genet 2021 Mar;58(3):205-212. Epub 2020 May 19 doi: 10.1136/jmedgenet-2019-106335. PMID: 32430360
Pavone P, Corsello G, Cho SY, Pappalardo XG, Ruggieri M, Marino SD, Jin DK, Marino S, Falsaperla R
Ital J Pediatr 2019 Dec 4;45(1):159. doi: 10.1186/s13052-019-0755-2. PMID: 31801583Free PMC Article
Sajan SA, Ganesh J, Shinde DN, Powis Z, Scarano MI, Stone J, Winter S, Tang S
J Med Genet 2019 Dec;56(12):850-854. Epub 2018 Nov 26 doi: 10.1136/jmedgenet-2018-105639. PMID: 30478137
Schinagl C, Melum GR, Rødningen OK, Bjørgo K, Andresen JH
J Med Case Rep 2017 Aug 17;11(1):226. doi: 10.1186/s13256-017-1402-4. PMID: 28814329Free PMC Article

Clinical prediction guides

Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O; Undiagnosed Diseases Network., Wangler MF, Yamamoto S, Bellen HJ, Tan QK
Am J Hum Genet 2021 Sep 2;108(9):1669-1691. Epub 2021 Jul 26 doi: 10.1016/j.ajhg.2021.06.019. PMID: 34314705
Buratti J, Ji L, Keren B, Lee Y, Booke S, Erdin S, Kim SY, Palculict TB, Meiner V, Chae JH, Woods CG, Tam A, Héron D, Cong F, Harel T
J Med Genet 2021 Mar;58(3):205-212. Epub 2020 May 19 doi: 10.1136/jmedgenet-2019-106335. PMID: 32430360
Pavone P, Corsello G, Cho SY, Pappalardo XG, Ruggieri M, Marino SD, Jin DK, Marino S, Falsaperla R
Ital J Pediatr 2019 Dec 4;45(1):159. doi: 10.1186/s13052-019-0755-2. PMID: 31801583Free PMC Article
Sajan SA, Ganesh J, Shinde DN, Powis Z, Scarano MI, Stone J, Winter S, Tang S
J Med Genet 2019 Dec;56(12):850-854. Epub 2018 Nov 26 doi: 10.1136/jmedgenet-2018-105639. PMID: 30478137
Seggers J, Haadsma ML, Bos AF, Heineman MJ, Middelburg KJ, van den Heuvel ER, Hadders-Algra M
Dev Med Child Neurol 2014 Nov;56(11):1078-84. Epub 2014 Jul 10 doi: 10.1111/dmcn.12546. PMID: 25040419

Recent systematic reviews

Omar AT 2nd, Khu KJO
Childs Nerv Syst 2019 Jul;35(7):1165-1171. Epub 2019 Mar 30 doi: 10.1007/s00381-019-04137-9. PMID: 30929071
Chan M, Park JJ, Shi T, Martinón-Torres F, Bont L, Nair H; Respiratory Syncytial Virus Network (ReSViNET).
J Glob Health 2017 Dec;7(2):020413. doi: 10.7189/jogh.07.020413. PMID: 29302319Free PMC Article
Kaur Y, de Souza RJ, Gibson WT, Meyre D
Obes Rev 2017 Jun;18(6):603-634. Epub 2017 Mar 27 doi: 10.1111/obr.12531. PMID: 28346723
Subramonia-Iyer S, Sanderson S, Sagoo G, Higgins J, Burton H, Zimmern R, Kroese M, Brice P, Shaw-Smith C
Genet Med 2007 Feb;9(2):74-9. doi: 10.1097/gim.0b013e31803141f2. PMID: 17304048
Kivelä T, Tuppurainen K, Riikonen P, Vapalahti M
Ophthalmology 2003 Oct;110(10):1983-8. doi: 10.1016/S0161-6420(03)00484-6. PMID: 14522775

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