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Postnatally, in keeping with a diagnosis of SGS, there were large fontanelles, ocular hypertelorism, a wide, broad forehead, midface retraction, a short, upturned nose, macroglossia, and a short neck. Other anomalies included cardiac defects, widened and dense long bone cortices, cerebral ventriculomegaly, and abnormal fundi. Splenopancreatic fusion, usually encountered in trisomy 13, was found on autopsy. Schinzel\u2013Giedion syndrome is likely a monogenic condition for which neither the heritability pattern nor pathogenesis has yet been determined. A clinical diagnosis may be made by identifying the facial phenotype, including prominent forehead, midface retraction, and short, upturned nose, plus one of either of the two other major distinguishing features: typical skeletal abnormalities or hydronephrosis. Typical skeletal anomalies include a sclerotic skull base, wide supraoccipital\u2010exoccipital synchondrosis, increased cortical density or thickness, and broad ribs. Other highly supportive features include neuroepithelial tumors (found in 17%), hypertrichosis, and brain abnormalities. Severe developmental delay and poor survival are constant features in reported patients. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32277","type":"journal-article","created":{"date-parts":[[2008,4,8]],"date-time":"2008-04-08T18:17:56Z","timestamp":1207678676000},"page":"1299-1306","source":"Crossref","is-referenced-by-count":46,"title":["Schinzel\u2013Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria"],"prefix":"10.1002","volume":"146A","author":[{"given":"Anna M.","family":"Lehman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"McFadden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Pugash","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karan","family":"Sangha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William T.","family":"Gibson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Millan S.","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,4,8]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"1111","article-title":"Schinzel\u2010Giedion syndrome","volume":"31","author":"Alavi S","year":"1994","journal-title":"Indian Pediatr"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0041-87812004000200008"},{"key":"e_1_2_8_4_1","first-page":"225","article-title":"Schinzel\u2010Giedion syndrome with severe deafness and neurodegenerative process","volume":"42","author":"Alembik Y","year":"1999","journal-title":"Ann Genet"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.1.42"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590119"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-006-0179-0"},{"key":"e_1_2_8_8_1","first-page":"351","volume-title":"Klinische Genetik in der P\u00e4diatrie. 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