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Rare developmental defect with connective tissue involvement

MedGen UID:
1842864
•Concept ID:
C5680622
•
Disease or Syndrome
Orphanet: ORPHA139030

Professional guidelines

PubMed

Fibroadipose Vascular Anomaly: Diagnosis and Treatment.
Shaikh R
Tech Vasc Interv Radiol 2024 Jun;27(2):100961. Epub 2024 Jun 28 doi: 10.1016/j.tvir.2024.100961. PMID: 39168550
Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines.
Xu K, Li G, Wu Z, Zhang TJ, Wu N; Chinese Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes
Orphanet J Rare Dis 2024 May 13;19(1):194. doi: 10.1186/s13023-024-03121-0. PMID: 38741208Free PMC Article
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s).
Wiesmann T, Castori M, Malfait F, Wulf H
Orphanet J Rare Dis 2014 Jul 23;9:109. doi: 10.1186/s13023-014-0109-5. PMID: 25053156Free PMC Article

Recent clinical studies

Etiology

Vascular aspects of the Ehlers-Danlos Syndromes.
Malfait F
Matrix Biol 2018 Oct;71-72:380-395. Epub 2018 Apr 27 doi: 10.1016/j.matbio.2018.04.013. PMID: 29709596
Arterial complications of vascular Ehlers-Danlos syndrome.
Eagleton MJ
J Vasc Surg 2016 Dec;64(6):1869-1880. Epub 2016 Sep 26 doi: 10.1016/j.jvs.2016.06.120. PMID: 27687326
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s).
Wiesmann T, Castori M, Malfait F, Wulf H
Orphanet J Rare Dis 2014 Jul 23;9:109. doi: 10.1186/s13023-014-0109-5. PMID: 25053156Free PMC Article
Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome: a systematic review.
Burcharth J, Rosenberg J
Dig Surg 2012;29(4):349-57. Epub 2012 Oct 22 doi: 10.1159/000343738. PMID: 23095510
Facial infiltrating lipomatosis.
Padwa BL, Mulliken JB
Plast Reconstr Surg 2001 Nov;108(6):1544-54. doi: 10.1097/00006534-200111000-00017. PMID: 11711926

Diagnosis

Imaging of Congenital Skeletal Disorders.
Aparisi Gómez MP, Trisolino G, Sangiorgi L, Guglielmi G, Bazzocchi A
Semin Musculoskelet Radiol 2021 Feb;25(1):22-38. Epub 2021 May 21 doi: 10.1055/s-0041-1723964. PMID: 34020466
Neonatal Marfan Syndrome.
Tognato E, Perona A, Aronica A, Bertola A, Cimminelli L, De Vecchi S, Eshraghy MR, Loperfido B, Vivenza C, Manzoni P
Am J Perinatol 2019 Jul;36(S 02):S74-S76. Epub 2019 Jun 25 doi: 10.1055/s-0039-1691770. PMID: 31238364
Severe Arterial Tortuosity.
Cubero A, Ayala J, Hamzeh G, Cortes A, Udaondo J, Aramendi JI
World J Pediatr Congenit Heart Surg 2017 Mar;8(2):231-234. Epub 2016 Jun 23 doi: 10.1177/2150135116629396. PMID: 27095117
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J
Am J Hum Genet 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008. PMID: 27588448Free PMC Article
Marfan syndrome.
Jain E, Pandey RK
BMJ Case Rep 2013 Dec 11;2013 doi: 10.1136/bcr-2013-201632. PMID: 24336584Free PMC Article

Therapy

Fibroadipose Vascular Anomaly: Diagnosis and Treatment.
Shaikh R
Tech Vasc Interv Radiol 2024 Jun;27(2):100961. Epub 2024 Jun 28 doi: 10.1016/j.tvir.2024.100961. PMID: 39168550
Arterial complications of vascular Ehlers-Danlos syndrome.
Eagleton MJ
J Vasc Surg 2016 Dec;64(6):1869-1880. Epub 2016 Sep 26 doi: 10.1016/j.jvs.2016.06.120. PMID: 27687326
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.
Haine E, Salles JP, Khau Van Kien P, Conte-Auriol F, Gennero I, Plancke A, Julia S, Dulac Y, Tauber M, Edouard T
J Bone Miner Res 2015 Aug;30(8):1369-76. Epub 2015 May 14 doi: 10.1002/jbmr.2471. PMID: 25656438
Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome: a systematic review.
Burcharth J, Rosenberg J
Dig Surg 2012;29(4):349-57. Epub 2012 Oct 22 doi: 10.1159/000343738. PMID: 23095510
Infantile digital fibromatosis.
Taylor HO, Gellis SE, Schmidt BA, Upton J, Rogers GF
Ann Plast Surg 2008 Oct;61(4):472-6. doi: 10.1097/SAP.0b013e31816d8236. PMID: 18812724

Prognosis

Imaging of Congenital Skeletal Disorders.
Aparisi Gómez MP, Trisolino G, Sangiorgi L, Guglielmi G, Bazzocchi A
Semin Musculoskelet Radiol 2021 Feb;25(1):22-38. Epub 2021 May 21 doi: 10.1055/s-0041-1723964. PMID: 34020466
LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer.
Laurentino TS, Soares RDS, Marie SKN, Oba-Shinjo SM
Int J Mol Sci 2019 Jul 23;20(14) doi: 10.3390/ijms20143587. PMID: 31340433Free PMC Article
Neonatal Marfan Syndrome.
Tognato E, Perona A, Aronica A, Bertola A, Cimminelli L, De Vecchi S, Eshraghy MR, Loperfido B, Vivenza C, Manzoni P
Am J Perinatol 2019 Jul;36(S 02):S74-S76. Epub 2019 Jun 25 doi: 10.1055/s-0039-1691770. PMID: 31238364
Arterial complications of vascular Ehlers-Danlos syndrome.
Eagleton MJ
J Vasc Surg 2016 Dec;64(6):1869-1880. Epub 2016 Sep 26 doi: 10.1016/j.jvs.2016.06.120. PMID: 27687326
Marfan syndrome.
Jain E, Pandey RK
BMJ Case Rep 2013 Dec 11;2013 doi: 10.1136/bcr-2013-201632. PMID: 24336584Free PMC Article

Clinical prediction guides

Fibroadipose Vascular Anomaly: Diagnosis and Treatment.
Shaikh R
Tech Vasc Interv Radiol 2024 Jun;27(2):100961. Epub 2024 Jun 28 doi: 10.1016/j.tvir.2024.100961. PMID: 39168550
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.
Huybrechts Y, Mortier G, Boudin E, Van Hul W
Front Endocrinol (Lausanne) 2020;11:165. Epub 2020 Apr 9 doi: 10.3389/fendo.2020.00165. PMID: 32328030Free PMC Article
Vascular aspects of the Ehlers-Danlos Syndromes.
Malfait F
Matrix Biol 2018 Oct;71-72:380-395. Epub 2018 Apr 27 doi: 10.1016/j.matbio.2018.04.013. PMID: 29709596
Arterial complications of vascular Ehlers-Danlos syndrome.
Eagleton MJ
J Vasc Surg 2016 Dec;64(6):1869-1880. Epub 2016 Sep 26 doi: 10.1016/j.jvs.2016.06.120. PMID: 27687326
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J
Am J Hum Genet 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008. PMID: 27588448Free PMC Article

Recent systematic reviews

Nuchal-type Fibroma: Single-Center Experience and Systematic Literature Review.
Kostakis ID, Feretis T, Damaskos C, Garmpis N, Liapis G, Pateras I, Garmpi A, Georgakopoulou VE, Antoniou EA
In Vivo 2020 Sep-Oct;34(5):2217-2223. doi: 10.21873/invivo.12032. PMID: 32871744Free PMC Article
Autologous Fat Injection for Treatment of Velopharyngeal Insufficiency.
Nigh E, Rubio GA, Hillam J, Armstrong M, Debs L, Thaller SR
J Craniofac Surg 2017 Jul;28(5):1248-1254. doi: 10.1097/SCS.0000000000003702. PMID: 28582294
Arterial complications of vascular Ehlers-Danlos syndrome.
Eagleton MJ
J Vasc Surg 2016 Dec;64(6):1869-1880. Epub 2016 Sep 26 doi: 10.1016/j.jvs.2016.06.120. PMID: 27687326
Interventions for congenital talipes equinovarus (clubfoot).
Gray K, Pacey V, Gibbons P, Little D, Burns J
Cochrane Database Syst Rev 2014 Aug 12;2014(8):CD008602. doi: 10.1002/14651858.CD008602.pub3. PMID: 25117413Free PMC Article
Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome: a systematic review.
Burcharth J, Rosenberg J
Dig Surg 2012;29(4):349-57. Epub 2012 Oct 22 doi: 10.1159/000343738. PMID: 23095510

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