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Quoted phrase not found in phrase index: "Hyperextensible skin of chest"
Page 1
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. Mihalic Mosher T, et al. Eur J Hum Genet. 2019 Oct;27(10):1569-1577. doi: 10.1038/s41431-019-0464-8. Epub 2019 Jul 5. Eur J Hum Genet. 2019. PMID: 31278392 Free PMC article.
Disease manifests with skeletal and connective tissue features, including short stature, hyperextensible skin, and joint hypermobility. We report a family with three affected pregnancies showing short limbs, cystic hygroma, and perinatal death. Two spontaneously abo …
Disease manifests with skeletal and connective tissue features, including short stature, hyperextensible skin, and joint hyper …
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. Abdul Wahab A, et al. Acta Paediatr. 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. Acta Paediatr. 2003. PMID: 12801113
The male to female ratio was 2:1, ages ranging from birth to 18 y (mean 7.4 y). RESULTS: Anomalies included a variable degree of skin hyperextensibility, hypermobility of small and large joints, and tortuous systemic arteries. ...The combination of an elongated aort …
The male to female ratio was 2:1, ages ranging from birth to 18 y (mean 7.4 y). RESULTS: Anomalies included a variable degree of skin …
Large mediastinal mass in a 15-year-old boy.
Gohar Ali M, Zubairi ABS, Qamar FN. Gohar Ali M, et al. BMJ Case Rep. 2018 Nov 8;2018:bcr2018226074. doi: 10.1136/bcr-2018-226074. BMJ Case Rep. 2018. PMID: 30413445 Free PMC article.
Hyperimmunoglobulin E syndrome is a rare multisystem inherited disorder characterised by high serum IgE levels, skin disorder causing eczema, dermatitis, recurrent staphylococcal infections and pulmonary infections and various skeletal and connective tissue abnormalities. …
Hyperimmunoglobulin E syndrome is a rare multisystem inherited disorder characterised by high serum IgE levels, skin disorder causing …
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. Ling JC, et al. Clin Immunol. 2007 Mar;122(3):255-8. doi: 10.1016/j.clim.2006.10.005. Epub 2006 Nov 13. Clin Immunol. 2007. PMID: 17098478 Free PMC article.
Hyper IgE recurrent infection syndrome (HIES, or Job's syndrome) is a primary immunodeficiency characterized by recurrent skin and lung infections, eczema, elevated serum immunoglobulin E (IgE) levels, and various connective tissue and skeletal system abnormalities includi …
Hyper IgE recurrent infection syndrome (HIES, or Job's syndrome) is a primary immunodeficiency characterized by recurrent skin and lu …
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. Park MA, et al. Medicine (Baltimore). 2017 Nov;96(47):e8853. doi: 10.1097/MD.0000000000008853. Medicine (Baltimore). 2017. PMID: 29381997 Free PMC article.
RATIONALE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyp …
RATIONALE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency o …