Výsledky vyhledávání

Acrofacial dysplasia resembling geleophysic dysplasia

Autor: H. C. Kallfelz, Gilbert Ef, J. Spranger, M. Burdelski, S. Flatz

Publikováno v: American Journal of Medical Genetics. 19:501-506

We report on a 12-year-old girl with acrofacial dysplasia, growth retardation, joint contractures, mitral valve incompetence and focal hepatic storage of material reacting histochemically as glycoprotein. The patient's phenotype resembles that of pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2ace919ec62dab233f380774a0b0459
https://doi.org/10.1002/ajmg.1320190311

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Narrow trachea in mucopolysaccharidoses

Autor: W. Adkins, Mary Ellen Peters, S. Arya, Leonard O. Langer, Carlson Ra, Gilbert Ef

Publikováno v: Pediatric Radiology. 15:225-228

Nine of 56 patients with mucopolysaccharidoses (MPS) showed small tracheal diameters on their frontal chest radiographs. Autopsy of an MPS I-H (Hurler disease) patient demonstrated that the small calibre was secondary to deposition of glycosaminoglyc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fecf5151e6853c417b4f058a59ae3793
https://doi.org/10.1007/bf02388760

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Malignant transformation of polyostotic fibrous dysplasia

Autor: Gottlieb Li, Gilbert Ef, Johnson Cb

Publikováno v: Southern medical journal. 72(3)

We have described an unusual case of polyostotic fibrous dysplasia in a 25-year-old white woman who had malignant transformation into a mesenchymal tumor with widespread metastases and features of rhabdomyosarcoma. Masculinization also occurred with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a75a5e8640d078f564e2cd0a6097a1
https://pubmed.ncbi.nlm.nih.gov/424832

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Further comments on the lissencephaly syndromes

Autor: Gilbert Ef, John M. Opitz, W. B. Dobyns

Publikováno v: American journal of medical genetics. 22(1)

Detailed clinical, pathological, and cytogenetic investigations of patients with lissencephaly over the past several years have demonstrated the existence of at least eight distinct conditions with variable genetic implications. In several of these d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a866cab7fe48cef4fe5e4421c0980f4
https://pubmed.ncbi.nlm.nih.gov/3901751

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The dup(3q) syndrome: report of eight cases and review of the literature

Publikováno v: American journal of medical genetics. 10(2)

Clinical and cytogenetic examinations were performed on eight unrelated infants with duplication of part of the long arm of chromosome 3. A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d91c935d6612bff1de697942a19447
https://pubmed.ncbi.nlm.nih.gov/7315873

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The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971

Autor: R I Macpherson, M H Reed, John M. Opitz, Gilbert Ef, J. Herrmann, C S Houston, Albert Schinzel, Jürgen W. Spranger

Publikováno v: American journal of medical genetics. 15(1)

We report 17 cases of the campomelic syndrome (CS) and a follow-up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own. An infant with the CS presents at birth with spectac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acdf43cc5115a1520f1c46ef6e9496ca
https://pubmed.ncbi.nlm.nih.gov/6344634

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Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome

Autor: Harold Chen, F. Stewart, L. Immken, S. Samuel Yang, D. Rightmire, Ralph S. Lachman, Leonard O. Langer, David L. Rimoin, Lawrence R. Shapiro, D. Eteson, Frits A. Beemer, John M. Opitz, P. A. Duncan, Gilbert Ef

Publikováno v: American journal of medical genetics. 17(4)

Three unrelated stillborn infants (cases 1–3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin-to-sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35428e8f892b6fcd1617c26b4ca0ebde
https://pubmed.ncbi.nlm.nih.gov/6720746

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