Výsledky vyhledávání

Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission

Autor: C, Schultz, L O, Langer, R, Laxova, R M, Pauli

Publikováno v: American journal of medical genetics. 83(1)

We describe two additional instances of atelosteogenesis, type III, in a woman and her son. Clinical and radiographic information concerning these individuals allows further definition of this rare skeletal dysplasia. This is the first documentation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f38738bf1a880919ad285698a6a9eb39
https://pubmed.ncbi.nlm.nih.gov/10076882

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Progressive laryngotracheal stenosis with short stature and arthropathy

Autor: R J, Hopkin, R, Cotton, L O, Langer, H M, Saal

Publikováno v: American journal of medical genetics. 80(3)

Laryngotracheal stenosis is rare in adults, especially in the absence of a malignancy. It is most commonly caused by fibrosis following endotracheal intubation or tracheal trauma. Other conditions causing progressive airway narrowing include the muco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b6e2a87c83d581e4681a6f0adb65daee
https://pubmed.ncbi.nlm.nih.gov/9843046

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Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges

Autor: W R, Osebold, A K, Poznanski, J M, Opitz, L O, Langer, J W, Spranger, K K, Unni

Publikováno v: American journal of medical genetics. 80(3)

We present the findings and clinical course of a Caucasian woman (now age 23 1/2) who has been treated since early childhood for a previously undescribed syndrome of painful osteocartilaginous metaplasia of long bone metaphyses and painful distal pha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c7a4b0479eb84e2e0027057b39ced862
https://pubmed.ncbi.nlm.nih.gov/9843035

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Sponastrime dysplasia: five new cases and review of nine previously published cases

Autor: L O, Langer, R K, Beals, S, LaFranchi, C I, Scott, J J, Sockalosky

Publikováno v: American journal of medical genetics. 63(1)

Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia. The diagnosis is established by a combination of clinical and radiological findings of which the radiological are the more specific. The current diagnostic criter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::586f3ac2e7006211975f9c19234730fb
https://pubmed.ncbi.nlm.nih.gov/8723082

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Genetic heterogeneity in multiple epiphyseal dysplasia

Autor: M, Deere, S H, Blanton, C I, Scott, L O, Langer, R M, Pauli, J T, Hecht

Publikováno v: American journal of human genetics. 56(3)

Multiple epiphyseal dysplasia (MED) comprises a group of hereditary chondrodysplasias in which there are major anatomic abnormalities of the long tubular bones. The Fairbank and Ribbing types are the most frequently cited types of MED. They are prima

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b32f44cc3c5b4a8172d4a583fc0e0272
https://pubmed.ncbi.nlm.nih.gov/7887425

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