{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T04:40:45Z","timestamp":1768192845996,"version":"3.49.0"},"reference-count":8,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,2,12]],"date-time":"2017-02-12T00:00:00Z","timestamp":1486857600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Coffin\u2013Lowry syndrome (CLS) is a rare genetic disorder inherited in an X\u2010linked dominant pattern. Common manifestations include intellectual disability, growth retardation, dysmorphic facial features, and variable skeletal anomalies. Here we report a patient who first presented with episodes of apparent life\u2010threatening events (ALTE) found to be caused by hydrocephalus and brainstem compression at the foramen magnum. Together with his small size, short limbs and fingers, and facial appearance, the narrowing of the foramen magnum lead to the initial clinical misdiagnosis of hypochondroplasia. Subsequent evaluation and testing lead to the correct diagnosis of CLS. This case demonstrates the variability in presentation of CLS, and that skeletal findings may be misleading in infancy. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38095","type":"journal-article","created":{"date-parts":[[2017,2,12]],"date-time":"2017-02-12T16:06:46Z","timestamp":1486915606000},"page":"1087-1089","source":"Crossref","is-referenced-by-count":3,"title":["Foramen magnum compression in Coffin\u2013Lowry syndrome: A case report"],"prefix":"10.1002","volume":"173","author":[{"given":"Jariya","family":"Upadia","sequence":"first","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham Birmingham Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerry","family":"Oakes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Alabama at Birmingham Birmingham Alabama"},{"name":"Department of Neurosurgery, Children's of Alabama University of Alabama at Birmingham Birmingham Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Austin","family":"Hamm","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham Birmingham Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna C. E.","family":"Hurst","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham Birmingham Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathaniel H.","family":"Robin","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham Birmingham Alabama"},{"name":"Department of Pediatrics University of Alabama at Birmingham Birmingham Alabama"},{"name":"Department of Surgery\/Otolaryngology University of Alabama at Birmingham Birmingham Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,2,12]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"205","article-title":"Mental retardation with osteocartilaginous anomalies","volume":"112","author":"Coffin GS","year":"1996","journal-title":"Am J Dis Child"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01379.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1097\/00003086-199202000-00021","article-title":"Coffin\u2013Lowry syndrome associated with calcium pyrophosphate crystal deposition in the ligamenta flava","volume":"275","author":"Ishida Y","year":"1992","journal-title":"Clin Orthop Relat Res"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1971.02100170078009"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01876467"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1179\/016164103101201355"},{"key":"e_1_2_4_8_1","first-page":"258","article-title":"Mental retardation, abnormal fingers, and skeletal anomalies: Coffin's syndrome","volume":"124","author":"Procopis PG","year":"1972","journal-title":"Am J Dis Child"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080212"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38095","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38095","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T00:36:08Z","timestamp":1696552568000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,12]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["10.1002\/ajmg.a.38095"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38095","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,12]]}}}