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Hyperextensible skin of chest

MedGen UID:
867459
•Concept ID:
C4021836
•
Finding
Synonyms: Hyperelastic chest skin; Stretchable chest skin
 
HPO: HP:0011930

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperextensible skin of chest

Recent clinical studies

Etiology

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL
Eur J Hum Genet 2019 Oct;27(10):1569-1577. Epub 2019 Jul 5 doi: 10.1038/s41431-019-0464-8. PMID: 31278392Free PMC Article
Systemic connective tissue abnormalities in patients with saccular intracranial aneurysms.
Lebedeva ER, Sakovich VP
Acta Neurol Scand 2013 Aug;128(2):130-5. Epub 2013 Feb 7 doi: 10.1111/ane.12088. PMID: 23398630
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.
Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS
Acta Paediatr 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. PMID: 12801113

Diagnosis

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL
Eur J Hum Genet 2019 Oct;27(10):1569-1577. Epub 2019 Jul 5 doi: 10.1038/s41431-019-0464-8. PMID: 31278392Free PMC Article
Large mediastinal mass in a 15-year-old boy.
Gohar Ali M, Zubairi ABS, Qamar FN
BMJ Case Rep 2018 Nov 8;2018 doi: 10.1136/bcr-2018-226074. PMID: 30413445Free PMC Article
Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.
Park MA, Shin SY, Kim YJ, Park MJ, Lee SH
Medicine (Baltimore) 2017 Nov;96(47):e8853. doi: 10.1097/MD.0000000000008853. PMID: 29381997Free PMC Article
Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome.
Ling JC, Freeman AF, Gharib AM, Arai AE, Lederman RJ, Rosing DR, Holland SM
Clin Immunol 2007 Mar;122(3):255-8. Epub 2006 Nov 13 doi: 10.1016/j.clim.2006.10.005. PMID: 17098478Free PMC Article
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.
Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS
Acta Paediatr 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. PMID: 12801113

Therapy

Large mediastinal mass in a 15-year-old boy.
Gohar Ali M, Zubairi ABS, Qamar FN
BMJ Case Rep 2018 Nov 8;2018 doi: 10.1136/bcr-2018-226074. PMID: 30413445Free PMC Article

Prognosis

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
Kretz R, Bozorgmehr B, Kariminejad MH, Rohrbach M, Hausser I, Baumer A, Baumgartner M, Giunta C, Kariminejad A, Häberle J
J Inherit Metab Dis 2011 Jun;34(3):731-9. Epub 2011 Apr 13 doi: 10.1007/s10545-011-9319-3. PMID: 21487760

Clinical prediction guides

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.
Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS
Acta Paediatr 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. PMID: 12801113

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