Research ExplorerPublicationsSchimke immunoosseous dysplasia: defining skeletal features.

Schimke immunoosseous dysplasia: defining skeletal features.

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Schimke immunoosseous dysplasia: defining skeletal features. / Hunter, Kshamta B; Lücke, Thomas; Spranger, Jürgen; Smithson, Sarah F; Alpay, Harika; André, Jean-Luc; Asakura, Yumi; Bogdanovic, Radovan; Bonneau, Dominique; Cairns, Robyn; Cransberg, Karlien; Fründ, Stefan; Fryssira, Helen; Goodman, David; Helmke, Knut; Hinkelmann, Barbara; Lama, Guiliana; Lamfers, Petra; Loirat, Chantal; Majore, Silvia; Mayfield, Christy; Pontz, Bertram F; Rusu, Cristina; Saraiva, Jorge M; Schmidt, Beate; Shoemaker, Lawrence; Sigaudy, Sabine; Stajic, Natasa; Taha, Doris; Boerkoel, Cornelius F.

In: EUR J PEDIATR, 2009.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Hunter, KB, Lücke, T, Spranger, J, Smithson, SF, Alpay, H, André, J-L, Asakura, Y, Bogdanovic, R, Bonneau, D, Cairns, R, Cransberg, K, Fründ, S, Fryssira, H, Goodman, D, Helmke, K, Hinkelmann, B, Lama, G, Lamfers, P, Loirat, C, Majore, S, Mayfield, C, Pontz, BF, Rusu, C, Saraiva, JM, Schmidt, B, Shoemaker, L, Sigaudy, S, Stajic, N, Taha, D & Boerkoel, CF 2009, 'Schimke immunoosseous dysplasia: defining skeletal features.', EUR J PEDIATR. <http://www.ncbi.nlm.nih.gov/pubmed/20013129?dopt=Citation>

APA

Hunter, K. B., Lücke, T., Spranger, J., Smithson, S. F., Alpay, H., André, J-L., Asakura, Y., Bogdanovic, R., Bonneau, D., Cairns, R., Cransberg, K., Fründ, S., Fryssira, H., Goodman, D., Helmke, K., Hinkelmann, B., Lama, G., Lamfers, P., Loirat, C., ... Boerkoel, C. F. (2009). Schimke immunoosseous dysplasia: defining skeletal features. EUR J PEDIATR. http://www.ncbi.nlm.nih.gov/pubmed/20013129?dopt=Citation

Vancouver

Hunter KB, Lücke T, Spranger J, Smithson SF, Alpay H, André J-L et al. Schimke immunoosseous dysplasia: defining skeletal features. EUR J PEDIATR. 2009.

Bibtex

@article{742ec8a4ced2496e87e4dfa91e43151c,
title = "Schimke immunoosseous dysplasia: defining skeletal features.",
abstract = "Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations.",
author = "Hunter, {Kshamta B} and Thomas L{\"u}cke and J{\"u}rgen Spranger and Smithson, {Sarah F} and Harika Alpay and Jean-Luc Andr{\'e} and Yumi Asakura and Radovan Bogdanovic and Dominique Bonneau and Robyn Cairns and Karlien Cransberg and Stefan Fr{\"u}nd and Helen Fryssira and David Goodman and Knut Helmke and Barbara Hinkelmann and Guiliana Lama and Petra Lamfers and Chantal Loirat and Silvia Majore and Christy Mayfield and Pontz, {Bertram F} and Cristina Rusu and Saraiva, {Jorge M} and Beate Schmidt and Lawrence Shoemaker and Sabine Sigaudy and Natasa Stajic and Doris Taha and Boerkoel, {Cornelius F}",
year = "2009",
language = "Deutsch",
journal = "EUR J PEDIATR",
issn = "0340-6199",
publisher = "Springer",

}

RIS

TY - JOUR

T1 - Schimke immunoosseous dysplasia: defining skeletal features.

AU - Hunter, Kshamta B

AU - Lücke, Thomas

AU - Spranger, Jürgen

AU - Smithson, Sarah F

AU - Alpay, Harika

AU - André, Jean-Luc

AU - Asakura, Yumi

AU - Bogdanovic, Radovan

AU - Bonneau, Dominique

AU - Cairns, Robyn

AU - Cransberg, Karlien

AU - Fründ, Stefan

AU - Fryssira, Helen

AU - Goodman, David

AU - Helmke, Knut

AU - Hinkelmann, Barbara

AU - Lama, Guiliana

AU - Lamfers, Petra

AU - Loirat, Chantal

AU - Majore, Silvia

AU - Mayfield, Christy

AU - Pontz, Bertram F

AU - Rusu, Cristina

AU - Saraiva, Jorge M

AU - Schmidt, Beate

AU - Shoemaker, Lawrence

AU - Sigaudy, Sabine

AU - Stajic, Natasa

AU - Taha, Doris

AU - Boerkoel, Cornelius F

PY - 2009

Y1 - 2009

N2 - Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations.

AB - Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations.

M3 - SCORING: Zeitschriftenaufsatz

JO - EUR J PEDIATR

JF - EUR J PEDIATR

SN - 0340-6199

ER -