{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T06:06:58Z","timestamp":1788329218262,"version":"build-2803163510"},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","license":[{"start":{"date-parts":[[2023,6,28]],"date-time":"2023-06-28T00:00:00Z","timestamp":1687910400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/ http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec>\n            <jats:title>Introduction and importance:<\/jats:title>\n            <jats:p>SCHMID metaphyseal chondrodysplasia is a rare cause of short stature with a good prognosis regarding other types of chondrodysplasia in reason of the normal integrity of the growth plate.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation:<\/jats:title>\n            <jats:p>The authors present a rare case of 4-year-2-month-old boy referred to our Unit for harmonious short stature, he had a waddling gait, subtle micromelia, and hyperlordosis, no special facies.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Clinical discussion:<\/jats:title>\n            <jats:p>The skeletal scan made the diagnosis of SCHMID metaphyseal chondrodysplasia. The first laboratory workup showed elevated thyroid stimulating hormone and anti-tissue transglutaminase immunoglobulin A. The duodenal biopsies confirmed the diagnosis of coeliac disease. Treatment of levothyroxine was initiated with a gluten-free diet .6 years later, his re-evaluation showed a low insulin-like growth factor 1 and low growth hormone peaks confirming the diagnosis of growth hormone deficiency, Growth hormone therapy was initiated with an adjusted dose of levothyroxine.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion:<\/jats:title>\n            <jats:p>Other causes of short stature should not be missed when diagnosing chondrodysplasia, and further investigations should be carried out to detect other concomitant disorders since metaphyseal chondrodysplasia is a rare cause for short stature while hypothyroidism and coeliac disease are relatively common.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/ms9.0000000000000751","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T17:00:21Z","timestamp":1691600421000},"page":"4045-4049","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["A rare case of SCHMID metaphyseal chondrodysplasia associated with hypothyroidism,growth hormone deficiency and celiac disease: case report"],"prefix":"10.1097","volume":"85","author":[{"given":"Ahmad","family":"Chreitah","sequence":"first","affiliation":[{"name":"Faculty Of Human Medicine, Department of Endocrinology Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Bress","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Medicine, Tishreen University Hospital, Latakia, Syria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Aljanati","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Medicine, Tishreen University Hospital, Latakia, Syria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeina","family":"Alkilany","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Medicine, Tishreen University Hospital, Latakia, Syria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aria","family":"Mohammed","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Medicine, Tishreen University Hospital, Latakia, Syria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Kherbek","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Medicine, Tishreen University Hospital, Latakia, Syria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,8]]},"reference":[{"key":"R2-20250806","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","article-title":"Nosology and classification of genetic skeletal disorders: 2015 revision","volume":"167A","author":"Bonafe","year":"2015","journal-title":"Am J Med Genet Part A"},{"key":"R3-20250806","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1002\/dvdy.24131","article-title":"Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia","volume":"2437","author":"Patterson","year":"2014","journal-title":"Dev Dyn"},{"key":"R4-20250806","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/BF02387549","article-title":"Metaphyseal chondrodysplasia, Schmid type. 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