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Lethal multiple congenital anomalies/dysmorphic syndrome

MedGen UID:
1842415
•Concept ID:
C5681114
•
Disease or Syndrome
Orphanet: ORPHA459787

Professional guidelines

PubMed

Human Laterality Disorders: Pathogenesis, Clinical Manifestations, Diagnosis, and Management.
Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V
Am J Med Sci 2021 Sep;362(3):233-242. Epub 2021 May 28 doi: 10.1016/j.amjms.2021.05.020. PMID: 34052215
Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review.
Haug S, Goldstein M, Cummins D, Fayard E, Merritt TA
JAMA Pediatr 2017 Apr 1;171(4):382-387. doi: 10.1001/jamapediatrics.2016.4798. PMID: 28192554
Non lethal Raine syndrome and differential diagnosis.
Elalaoui SC, Al-Sheqaih N, Ratbi I, Urquhart JE, O'Sullivan J, Bhaskar S, Williams SS, Elalloussi M, Lyahyai J, Sbihi L, Cherkaoui Jaouad I, Sbihi A, Newman WG, Sefiani A
Eur J Med Genet 2016 Nov;59(11):577-583. Epub 2016 Sep 22 doi: 10.1016/j.ejmg.2016.09.018. PMID: 27667191

Recent clinical studies

Etiology

Ciliary Dyneins and Dynein Related Ciliopathies.
Antony D, Brunner HG, Schmidts M
Cells 2021 Jul 25;10(8) doi: 10.3390/cells10081885. PMID: 34440654Free PMC Article
Cardiac surgery for children with trisomies 13 and 18: Where are we now?
Janvier A, Farlow B, Barrington K
Semin Perinatol 2016 Jun;40(4):254-60. Epub 2016 Feb 1 doi: 10.1053/j.semperi.2015.12.015. PMID: 26847083
Goltz syndrome and PORCN: A view from Europe.
Happle R
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):21-3. Epub 2016 Jan 22 doi: 10.1002/ajmg.c.31469. PMID: 26799923
A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC
J Matern Fetal Neonatal Med 2016;29(12):2013-6. Epub 2015 Aug 26 doi: 10.3109/14767058.2015.1072162. PMID: 26333300
Acute aortic syndromes.
Booher AM, Eagle KA, Bossone E
Herz 2011 Sep;36(6):480-7. doi: 10.1007/s00059-011-3504-x. PMID: 21912914

Diagnosis

Incontinentia Pigmenti.
Cammarata-Scalisi F, Fusco F, Ursini MV
Actas Dermosifiliogr (Engl Ed) 2019 May;110(4):273-278. Epub 2019 Jan 17 doi: 10.1016/j.ad.2018.10.004. PMID: 30660327
Fetal Skeletal Disorders.
Schramm T, Mommsen H
Ultraschall Med 2018 Dec;39(6):610-634. Epub 2018 Sep 6 doi: 10.1055/a-0660-9417. PMID: 30189431
Goltz syndrome and PORCN: A view from Europe.
Happle R
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):21-3. Epub 2016 Jan 22 doi: 10.1002/ajmg.c.31469. PMID: 26799923
Acute aortic syndromes.
Booher AM, Eagle KA, Bossone E
Herz 2011 Sep;36(6):480-7. doi: 10.1007/s00059-011-3504-x. PMID: 21912914
Tracheal agenesis.
Effmann EL, Spackman TJ, Berdon WE, Kuhn JP, Leonidas JC
Am J Roentgenol Radium Ther Nucl Med 1975 Dec;125(4):767-81. doi: 10.2214/ajr.125.4.767. PMID: 1211507

Therapy

Aortic Graft Dehiscence After Valve-Sparing Root Replacement.
Uchida T, Hamasaki A, Kuroda Y, Yamashita A, Mizumoto M, Sadahiro M
Ann Thorac Surg 2019 Sep;108(3):e169-e171. Epub 2019 Feb 19 doi: 10.1016/j.athoracsur.2019.01.036. PMID: 30794782
Cutaneous Mycobacterium chelonae infection following autologous peripheral blood stem cell transplantation for POEMS syndrome.
Hashimoto Y, Ikeda A, Tokuyasu Y, Omura H, Tanaka T
J Infect Chemother 2018 Dec;24(12):983-986. Epub 2018 May 31 doi: 10.1016/j.jiac.2018.05.004. PMID: 29861185
Death by food.
Byard RW
Forensic Sci Med Pathol 2018 Sep;14(3):395-401. Epub 2017 Jul 15 doi: 10.1007/s12024-017-9899-9. PMID: 28710688Free PMC Article
Left ventricular pseudoaneurysm after reimplantation procedure.
Inoue T, Hashimoto K, Sakamoto Y, Yoshitake M, Matsumura Y, Kinami H, Takagi T
Gen Thorac Cardiovasc Surg 2016 Apr;64(4):224-6. Epub 2014 Jun 12 doi: 10.1007/s11748-014-0432-8. PMID: 24917204
Acute aortic syndromes.
Booher AM, Eagle KA, Bossone E
Herz 2011 Sep;36(6):480-7. doi: 10.1007/s00059-011-3504-x. PMID: 21912914

Prognosis

Medical Therapies for Marfan Syndrome and Other Thoracic Aortic Dilatation in Adults: A Contemporary Review.
Kocyigit D, Griffin BP, Xu B
Am J Cardiovasc Drugs 2021 Nov;21(6):609-617. Epub 2021 Mar 22 doi: 10.1007/s40256-021-00472-y. PMID: 33748919
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
Freed AS, Schwarz AC, Brei BK, Clowes Candadai SV, Thies J, Mah JK, Chabra S, Wang L, Innes AM, Bennett JT
Am J Med Genet A 2021 Mar;185(3):827-835. Epub 2020 Dec 9 doi: 10.1002/ajmg.a.62011. PMID: 33296147
A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC
J Matern Fetal Neonatal Med 2016;29(12):2013-6. Epub 2015 Aug 26 doi: 10.3109/14767058.2015.1072162. PMID: 26333300
Acute aortic syndromes.
Booher AM, Eagle KA, Bossone E
Herz 2011 Sep;36(6):480-7. doi: 10.1007/s00059-011-3504-x. PMID: 21912914
Larsen syndrome--lethal variety.
Kulkarni ML, Mohammed Z, Kulkarni PM
Indian J Pediatr 2005 Dec;72(12):1053-4. PMID: 16388157

Clinical prediction guides

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG
Genet Med 2018 Oct;20(10):1175-1185. Epub 2018 Feb 22 doi: 10.1038/gim.2017.249. PMID: 29469822Free PMC Article
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection.
Popadin K, Peischl S, Garieri M, Sailani MR, Letourneau A, Santoni F, Lukowski SW, Bazykin GA, Nikolaev S, Meyer D, Excoffier L, Reymond A, Antonarakis SE
Genome Res 2018 Jan;28(1):1-10. Epub 2017 Dec 13 doi: 10.1101/gr.228411.117. PMID: 29237728Free PMC Article
Recent advances in the study of somatic mosaicism and diseases other than cancer.
Erickson RP
Curr Opin Genet Dev 2014 Jun;26:73-8. Epub 2014 Jul 20 doi: 10.1016/j.gde.2014.06.001. PMID: 25050467
Conceptual developments in the causes of Cockayne syndrome.
Cleaver JE, Bezrookove V, Revet I, Huang EJ
Mech Ageing Dev 2013 May-Jun;134(5-6):284-90. Epub 2013 Feb 18 doi: 10.1016/j.mad.2013.02.005. PMID: 23428417
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F, Lefever S, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. PMID: 20690115

Recent systematic reviews

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.
Vrabič N, Fakin A, Tekavčič Pompe M
J Fr Ophtalmol 2024 Oct;47(8):104232. Epub 2024 Aug 29 doi: 10.1016/j.jfo.2024.104232. PMID: 39213781
Clinical outcomes and molecular profile of patients with Carmi syndrome: A systematic review and evidence quality assessment.
Mylonas KS, Hayes M, Ko LN, Griggs CL, Kroshinsky D, Masiakos PT
J Pediatr Surg 2019 Jul;54(7):1351-1358. Epub 2018 May 29 doi: 10.1016/j.jpedsurg.2018.05.019. PMID: 29935895

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