{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:23:29Z","timestamp":1790400209106,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,3,12]],"date-time":"2014-03-12T00:00:00Z","timestamp":1394582400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Charit\u00ef\u00bf\u00bd Universit\u00ef\u00bf\u00bdtsmedizin Berlin"},{"name":"Deutsche Gesellschaft f\u00ef\u00bf\u00bdr Muskelkranke (DGM)","award":["Ka3\/1"],"award-info":[{"award-number":["Ka3\/1"]}]},{"DOI":"10.13039\/100010121","name":"Sonnenfeld Stiftung","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100010121","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>The aim of this study was to assess the diagnostic approach to microcephaly in childhood and to identify the prevalence of the various underlying causes\/disease entities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We conducted a retrospective study on a cohort of 680 children with microcephaly (399 males, 281 females; mean age at presentation 7\u20138mo, range 1mo\u20135y) from patients presenting to Charit\u00e9 \u2013 University Medicine Berlin (<jats:italic>n<\/jats:italic>=474) and University Hospital Dresden (<jats:italic>n<\/jats:italic>=206). Patient discharge letters were searched electronically to identify cases of microcephaly, and then the medical records of these patients were used to analyze parameters for distribution.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The putative aetiology for microcephaly was ascertained in 59% of all patients, leaving 41% without a definite diagnosis. In the cohort of pathogenetically defined microcephaly, genetic causes were identified in about half of the patients, perinatal brain damage accounted for 45%, and postnatal brain damage for 3% of the cases. Microcephaly was associated with intellectual impairment in 65% of participants, epilepsy was diagnosed in 43%, and ophthalmological disorders were found in 30%. Brain magnetic resonance imaging revealed abnormalities in 76% of participants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Microcephaly remains a poorly defined condition, and a uniform diagnostic approach is urgently needed. A definite aetiological diagnosis is important in order to predict the prognosis and offer genetic counselling. Identifying gene mutations as causes of microcephaly increases our knowledge of brain development and the clinical spectrum of microcephaly. We therefore propose a standardized initial diagnostic approach to microcephaly.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.12425","type":"journal-article","created":{"date-parts":[[2014,3,12]],"date-time":"2014-03-12T09:52:33Z","timestamp":1394617953000},"page":"732-741","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":198,"title":["Diagnostic approach to microcephaly in childhood: a two\u2010center study and review of the literature"],"prefix":"10.1111","volume":"56","author":[{"given":"Maja","family":"von der Hagen","sequence":"first","affiliation":[{"name":"Abteilung Neuropaediatrie Medizinische Fakult\u00e4t Carl Gustav Carus Technische Universit\u00e4t Dresden Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Pivarcsi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin Berlin 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