{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:00:44Z","timestamp":1791896444117,"version":"4.3.4"},"reference-count":16,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,8,1]]},"abstract":"<jats:p>Schimke-immuno-osseous dysplasia is a rare autosomal-recessive multisystem disorder with the main clinical features of disproportionate growth deficiency, defective cellular immunity, and progressive renal disease. It is caused by mutations of SMARCAL1, a gene encoding a putative chromatin remodeling protein of unknown function. Because a detailed description of the clinical features is an essential first step in elucidating the function of SMARCAL1, we present the first detailed anthropometric data for Schimke-immuno-osseous dysplasia patients. By comprehensive anthropometric examination (28 parameters) of 8 patients (3 females) with the typical findings of Schimke-immuno-osseous dysplasia (mean age: 14.8 years; range: 4.9\u201330.5 years) and 304 patients (117 females) with congenital and hereditary chronic kidney disease (mean age: 10.7 \u00b1 4.8 years; range: 3\u201321.8 years), we show that Schimke-immuno-osseous dysplasia patients differ significantly from those with other forms of chronic kidney disease. z scores were calculated with reference limits derived from 5155 healthy children (2591 females) aged 3 to 18 years. The key finding was that, in the latter group, median leg length was significantly more reduced than sitting height, whereas in Schimke-immuno-osseous dysplasia patients, the reduction of sitting height was significantly more pronounced than for leg length. Therefore, the ratio of sitting height\/leg length might be a simple tool for the clinician to distinguish Schimke-immuno-osseous dysplasia from other chronic kidney disease patients. Schimke-immuno-osseous dysplasia is very likely if this ratio is &amp;lt;0.83. However, other forms of chronic kidney disease have to be discussed in case of a ratio &amp;gt;1.01.<\/jats:p>","DOI":"10.1542\/peds.2005-2614","type":"journal-article","created":{"date-parts":[[2006,7,1]],"date-time":"2006-07-01T00:57:13Z","timestamp":1151715433000},"page":"e400-e407","source":"Crossref","is-referenced-by-count":29,"title":["Schimke Versus Non-Schimke Chronic Kidney Disease: An Anthropometric Approach"],"prefix":"10.1542","volume":"118","author":[{"given":"Thomas","family":"Lu\u0308cke","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hannover Medical School, Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris","family":"Franke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hannover Medical School, Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Marietta","family":"Clewing","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelius F.","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jochen H.H.","family":"Ehrich","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hannover Medical School, Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anibh M.","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hannover Medical School, Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miroslav","family":"Z\u0306ivic\u030cnjak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hannover Medical School, Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2006,8,1]]},"reference":[{"key":"2021120822411835600_R1","doi-asserted-by":"crossref","unstructured":"Ehrich JHH, Offner G, Schirg E, Hoyer PF, Helmchen U, Brodehl J. 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