Congenital connective tissue disorder

MedGen UID:: 678485
•Concept ID:: C0852085
•: Disease or Syndrome

SNOMED CT:

Congenital connective tissue disorder (363039000)

Professional guidelines

PubMed

MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.

Levin BL, Varga E
J Genet Couns 2016 Oct;25(5):901-11. Epub 2016 Apr 30 doi: 10.1007/s10897-016-9956-7. PMID: 27130656

2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT).

Galiè N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M; ESC Scientific Document Group
Eur Heart J 2016 Jan 1;37(1):67-119. Epub 2015 Aug 29 doi: 10.1093/eurheartj/ehv317. PMID: 26320113

Noonan syndrome: clinical features, diagnosis, and management guidelines.

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

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Recent clinical studies

Etiology

Neuraxial and regional anesthesia in surgical patients with osteogenesis imperfecta: a narrative review of literature.

Beethe AR, Bohannon NA, Ogun OA, Wallace MJ, Esposito PW, Lockhart TJ, Hamlin RJ, Williams JR, Goeller JK
Reg Anesth Pain Med 2020 Dec;45(12):993-999. Epub 2020 Oct 9 doi: 10.1136/rapm-2020-101576. PMID: 33037052

Gait Deviations in Children With Osteogenesis Imperfecta Type I.

Garman CR, Graf A, Krzak J, Caudill A, Smith P, Harris G
J Pediatr Orthop 2019 Sep;39(8):e641-e646. doi: 10.1097/BPO.0000000000001062. PMID: 31393309

Betaglycan (TGFBR3) up-regulation correlates with increased TGF-β signaling in Marfan patient fibroblasts in vitro.

Groeneveld ME, Bogunovic N, Musters RJP, Tangelder GJ, Pals G, Wisselink W, Micha D, Yeung KK
Cardiovasc Pathol 2018 Jan-Feb;32:44-49. Epub 2017 Nov 4 doi: 10.1016/j.carpath.2017.10.003. PMID: 29198452

Endovascular repair of bilateral iliac artery aneurysms in a patient with Loeys-Dietz syndrome.

Casey K, Zayed M, Greenberg JI, Dalman RL, Lee JT
Ann Vasc Surg 2012 Jan;26(1):107.e5-10. Epub 2011 Aug 11 doi: 10.1016/j.avsg.2011.06.005. PMID: 21835579

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Diagnosis

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Evesson FJ, Dziaduch G, Bryen SJ, Moore F, Pittman S, Devanapalli B, Waddell LB, Ryan MM, Menezes MP, Weihl CC, Tolun AA, Zaidman C, Young H, Adès LC, Cooper ST
Hum Mol Genet 2023 Jun 5;32(12):2084-2092. doi: 10.1093/hmg/ddad035. PMID: 36920481 Free PMC Article

Neuraxial and regional anesthesia in surgical patients with osteogenesis imperfecta: a narrative review of literature.

Gait Deviations in Children With Osteogenesis Imperfecta Type I.

Garman CR, Graf A, Krzak J, Caudill A, Smith P, Harris G
J Pediatr Orthop 2019 Sep;39(8):e641-e646. doi: 10.1097/BPO.0000000000001062. PMID: 31393309

Endovascular repair of bilateral iliac artery aneurysms in a patient with Loeys-Dietz syndrome.

Casey K, Zayed M, Greenberg JI, Dalman RL, Lee JT
Ann Vasc Surg 2012 Jan;26(1):107.e5-10. Epub 2011 Aug 11 doi: 10.1016/j.avsg.2011.06.005. PMID: 21835579

Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography.

Ozkur A, Kervancioglu R, Kervancioglu S, Dikensoy E, Bayram M
Saudi Med J 2007 Aug;28(8):1289-90. PMID: 17676222

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Therapy

Neuraxial and regional anesthesia in surgical patients with osteogenesis imperfecta: a narrative review of literature.

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Prognosis

Neuraxial and regional anesthesia in surgical patients with osteogenesis imperfecta: a narrative review of literature.

Endovascular repair of bilateral iliac artery aneurysms in a patient with Loeys-Dietz syndrome.

Casey K, Zayed M, Greenberg JI, Dalman RL, Lee JT
Ann Vasc Surg 2012 Jan;26(1):107.e5-10. Epub 2011 Aug 11 doi: 10.1016/j.avsg.2011.06.005. PMID: 21835579

See all (2)