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Distinctive facial features

MedGen UID:
833083
Concept ID:
CN228801
Finding

Professional guidelines

PubMed

Porras AR, Summar M, Linguraru MG
Mol Genet Genomic Med 2021 May;9(5):e1636. Epub 2021 Mar 27 doi: 10.1002/mgg3.1636. PMID: 33773094Free PMC Article
Pérez-Grijalba V, García-Oguiza A, López M, Armstrong J, García-Miñaur S, Mesa-Latorre JM, O'Callaghan M, Pineda Marfa M, Ramos-Arroyo MA, Santos-Simarro F, Seidel V, Domínguez-Garrido E
Mol Genet Genomic Med 2019 Nov;7(11):e972. Epub 2019 Sep 30 doi: 10.1002/mgg3.972. PMID: 31566936Free PMC Article
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA
Pediatrics 2010 Oct;126(4):746-59. Epub 2010 Sep 27 doi: 10.1542/peds.2009-3207. PMID: 20876176

Recent clinical studies

Etiology

Dolci C, Sansone VA, Gibelli D, Cappella A, Sforza C
Am J Med Genet A 2021 Mar;185(3):781-789. Epub 2020 Dec 24 doi: 10.1002/ajmg.a.62040. PMID: 33369085
Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A; DDD Study, Blair E, Taylor JC, Stewart H
Clin Genet 2019 Jun;95(6):693-703. Epub 2019 Apr 3 doi: 10.1111/cge.13533. PMID: 30859559Free PMC Article
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF
Biol Psychiatry 2019 Feb 15;85(4):287-297. Epub 2018 Mar 15 doi: 10.1016/j.biopsych.2018.02.1173. PMID: 29724491Free PMC Article
Roberts AE, Allanson JE, Tartaglia M, Gelb BD
Lancet 2013 Jan 26;381(9863):333-42. Epub 2013 Jan 10 doi: 10.1016/S0140-6736(12)61023-X. PMID: 23312968Free PMC Article
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA
Pediatrics 2010 Oct;126(4):746-59. Epub 2010 Sep 27 doi: 10.1542/peds.2009-3207. PMID: 20876176

Diagnosis

Zenker M, Edouard T, Blair JC, Cappa M
Arch Dis Child 2022 Dec;107(12):1073-1078. Epub 2022 Mar 4 doi: 10.1136/archdischild-2021-322858. PMID: 35246453Free PMC Article
Dolci C, Sansone VA, Gibelli D, Cappella A, Sforza C
Am J Med Genet A 2021 Mar;185(3):781-789. Epub 2020 Dec 24 doi: 10.1002/ajmg.a.62040. PMID: 33369085
Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z
Clin Genet 2015 Jul;88(1):1-12. Epub 2014 Oct 28 doi: 10.1111/cge.12499. PMID: 25209348
Roberts AE, Allanson JE, Tartaglia M, Gelb BD
Lancet 2013 Jan 26;381(9863):333-42. Epub 2013 Jan 10 doi: 10.1016/S0140-6736(12)61023-X. PMID: 23312968Free PMC Article
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA
Pediatrics 2010 Oct;126(4):746-59. Epub 2010 Sep 27 doi: 10.1542/peds.2009-3207. PMID: 20876176

Therapy

Barros C, Albuquerque PB, Pinto R, El Haj M
Scand J Psychol 2021 Aug;62(4):502-509. Epub 2021 May 10 doi: 10.1111/sjop.12734. PMID: 33973256
Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW
Am J Med Genet A 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832. PMID: 30160832
de Graaf M, Kant SG, Wit JM, Willem Redeker EJ, Eduard Santen GW, Henriëtta Verkerk AJM, Uitterlinden AG, Losekoot M, Oostdijk W
J Clin Res Pediatr Endocrinol 2017 Dec 15;9(4):366-370. Epub 2017 Jun 7 doi: 10.4274/jcrpe.4349. PMID: 28588001Free PMC Article
Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E
Am J Med Genet A 2013 Feb;161A(2):273-84. Epub 2013 Jan 15 doi: 10.1002/ajmg.a.35717. PMID: 23322667
Foulds N, Walpole I, Elmslie F, Mansour S
Am J Med Genet A 2005 Jan 15;132A(2):130-5. doi: 10.1002/ajmg.a.30418. PMID: 15578620

Prognosis

Siavrienė E, Petraitytė G, Mikštienė V, Maldžienė Ž, Sasnauskienė A, Žitkutė V, Ambrozaitytė L, Rančelis T, Utkus A, Kučinskas V, Preikšaitienė E
Medicina (Kaunas) 2023 Jun 29;59(7) doi: 10.3390/medicina59071225. PMID: 37512036Free PMC Article
Salah A, Almannai M, Al Ojaimi M, Radefeldt M, Gulati N, Iqbal M, Alawbathani S, Al-Ali R, Beetz C, El-Hattab AW
Clin Genet 2022 May;101(5-6):565-570. Epub 2022 Mar 13 doi: 10.1111/cge.14126. PMID: 35229282
Dolci C, Sansone VA, Gibelli D, Cappella A, Sforza C
Am J Med Genet A 2021 Mar;185(3):781-789. Epub 2020 Dec 24 doi: 10.1002/ajmg.a.62040. PMID: 33369085
Pastores GM, Hughes DA
Best Pract Res Clin Endocrinol Metab 2015 Mar;29(2):173-82. Epub 2014 Aug 27 doi: 10.1016/j.beem.2014.08.005. PMID: 25987171
Roberts AE, Allanson JE, Tartaglia M, Gelb BD
Lancet 2013 Jan 26;381(9863):333-42. Epub 2013 Jan 10 doi: 10.1016/S0140-6736(12)61023-X. PMID: 23312968Free PMC Article

Clinical prediction guides

Bannister JJ, Wilms M, Aponte JD, Katz DC, Klein OD, Bernier FPJ, Spritz RA, Hallgrímsson B, Forkert ND
Artif Intell Med 2022 Dec;134:102425. Epub 2022 Oct 20 doi: 10.1016/j.artmed.2022.102425. PMID: 36462895Free PMC Article
Freud E, Di Giammarino D, Camilleri C
Cogn Res Princ Implic 2022 Nov 16;7(1):97. doi: 10.1186/s41235-022-00444-z. PMID: 36380225Free PMC Article
Roessler HI, van der Heuvel LM, Shields K, Guilliams KP, Knoers NVAM, van Haaften G, Grange DK, van Haelst MM
Am J Med Genet A 2021 Aug;185(8):2434-2444. Epub 2021 May 30 doi: 10.1002/ajmg.a.62348. PMID: 34056838Free PMC Article
Dolci C, Sansone VA, Gibelli D, Cappella A, Sforza C
Am J Med Genet A 2021 Mar;185(3):781-789. Epub 2020 Dec 24 doi: 10.1002/ajmg.a.62040. PMID: 33369085
Greco M, Ferrara P, Farello G, Striano P, Verrotti A
Epilepsy Res 2018 Jan;139:92-101. Epub 2017 Dec 2 doi: 10.1016/j.eplepsyres.2017.11.016. PMID: 29212048

Recent systematic reviews

Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL
J Pediatr Ophthalmol Strabismus 2021 Nov-Dec;58(6):e44-e48. Epub 2021 Nov 1 doi: 10.3928/01913913-20210826-01. PMID: 34851787
Danis DO 3rd, Bodamer O, Levi JR
Int J Pediatr Otorhinolaryngol 2021 Apr;143:110649. Epub 2021 Feb 12 doi: 10.1016/j.ijporl.2021.110649. PMID: 33640723

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    Clinical resources

    Practice guidelines

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