Search Results - "Spranger, Jürgen W."

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention by Ferreira, Carlos R., Regier, Debra S., Yoon, Robin, Pan, Kristen S., Johnston, Jean M., Yang, Sandra, Spranger, Jürgen W., Tifft, Cynthia J.

“…GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in GLB1 encoding a lysosomal β-galactosidase. This disease is a continuum from the…”
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Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood by Bronicki, Lucas M., Stevenson, Roger E., Spranger, Jürgen W.

“…Fractures in infancy or early childhood require prompt evaluation with consideration of accidental or non‐accidental trauma as well as a large number of…”
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PIGQ glycosylphosphatidylinositol‐anchored protein deficiency: Characterizing the phenotype by Starr, Lois J., Spranger, Jürgen W., Rao, Vamshi K., Lutz, Richard, Yetman, Anji T.

“…PIGQ (OMIM *605754) encodes phosphatidylinositol glycan biosynthesis class Q (PIGQ) and is required for proper functioning of an N‐acetylglucosamine…”
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Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations by Warren, Hannah E., Louie, Raymond J., Friez, Michael J., Frías, Jaime L., Leroy, Jules G., Spranger, Jürgen W., Skinner, Steven A., Champaigne, Neena L.

“…Key Clinical Message Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. The mutations identified have been…”
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Recessive omodysplasia: five new cases and review of the literature by Elçioglu, Nursel H, Gustavson, Karl H, Wilkie, Andrew O M, Yüksel-Apak, Memune, Spranger, Jürgen W

“…Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of…”
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Campomelic dysplasia. Further elucidation of a distinct entity by Hall, B D, Spranger, J W

“…Campomelic dysplasia is a distinct entity that should not be confused with other conditions associated with congenital bowing of the long bones. Evidence…”
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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 by Houston, C S, Opitz, J M, Spranger, J W, Macpherson, R I, Reed, M H, Gilbert, E F, Herrmann, J, Schinzel, A

“…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…”
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Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations by Warren, Hannah E, Louie, Raymond J, Friez, Michael J, Frías, Jaime L, Leroy, Jules G, Spranger, Jürgen W, Skinner, Steven A, Champaigne, Neena L

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Disproportionate Short Stature: Diagnosis and Management, by Joseph A. Bailey, II, M.D., F.A.C.S. Philadelphia/London/Toronto: W. B. Saunders Co., 1973, 589 pp., $22.50 by Spranger, Jürgen W.

“…The orthopedic management of patients with inborn errors of skeletal development is unsatisfactory to both patient and physician. The results of major…”
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Vitamin K deficiency embryopathy: A phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism by Menger, Hartmut, Lin, Angela E., Toriello, Helga V., Bernert, Günter, Spranger, Jürgen W.

“…Three unrelated infants presented with radiographic punctate calcifications, nasal hypoplasia, and abnormalities of the spine. Additional anomalies included…”
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Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges by Osebold, William R., Poznanski, Andrew K., Opitz, John M., Langer Jr, Leonard O., Spranger, Jürgen W., Unni, K. Krishnan

“…We present the findings and clinical course of a Caucasian woman (now age 23½) who has been treated since early childhood for a previously undescribed syndrome…”
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I-Cell disease, mucolipidosis II: Pathological, histochemical, ultrastructural and biochemical observations in four cases by Gilbert, Enid F., Dawson, Glyn, Zu Rhein, Gabriele M., Opitz, John M., Spranger, J rgen W.

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Developmental terms?Some proposals: First report of an international working group by Spranger, J rgen W.

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I-cell disease by Leroy, J G, Spranger, J W

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Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants by Gilbert, E F, Opitz, J M, Spranger, J W, Langer, Jr, L O, Wolfson, J J, Viseskul, C

“…Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the…”
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Familial congenital bowing with short bones by Hall, B D, Spranger, J W

“…The case reports of 2 brothers with congenital bowing and short broad bones are discussed. In this apparently new familial bowing syndrome, the rhizometic…”
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The Stickler syndrome by Opitz, J M, France, T, Herrmann, J, Spranger, J W

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Spondyloepiphyseal dysplasia congenita by Spranger, J W, Langer, Jr, L O

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I-cell disease: a clinical picture by Leroy, J G, Spranger, J W, Feingold, M, Opitz, J M, Crocker, A C

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Beta galactosidase and the Morquio syndrome by Spranger, J W

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