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Two children with SGS are reported with identical clinical findings: megacalycosis, progressive neurodegeneration with infantile spasms and hypsarrhymtic activity. Ocular investigations revealed alacrimia and corneal hypoesthesia. Computed tomography of the temporal bone showed a tuning\u2010fork malformation of the stapes for both children. These features may contribute to further delineation of SGS as additional clinical criteria. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10348","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:24:15Z","timestamp":1030317855000},"page":"211-217","source":"Crossref","is-referenced-by-count":27,"title":["Further clinical and sensorial delineation of Schinzel\u2010Giedion syndrome: Report of two cases"],"prefix":"10.1002","volume":"109","author":[{"given":"David","family":"Minn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Christmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"De Saint\u2010Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Alembik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myl\u00e8ne","family":"Eliot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genevi\u00e8ve","family":"Mack","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Fischbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques","family":"Flament","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francis","family":"Veillon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,3,20]]},"reference":[{"key":"e_1_2_5_2_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_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.1.42"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)91268-0"},{"key":"e_1_2_5_5_1","first-page":"157","article-title":"Development of the stapes of the human ear","volume":"32","author":"Anson BJ","year":"1958","journal-title":"Q Bull Northwest Univ Med School"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590119"},{"key":"e_1_2_5_7_1","first-page":"21","article-title":"A Croatian case of the Schinzel\u2010Giedion syndrome","volume":"7","author":"Culic V","year":"1996","journal-title":"Genet Couns"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.6.483"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260319"},{"key":"e_1_2_5_10_1","first-page":"35","article-title":"A syndrome of alacrima, achalasias and neurologic anomalies without adrenocortical insufficiency","volume":"28","author":"El Rayyes K","year":"1991","journal-title":"J Pediatr Ophthalmol Strab"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00005"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(94)90073-6"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819609057867"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02012399"},{"key":"e_1_2_5_15_1","first-page":"21","article-title":"Familial dysautonomia (Riley\u2010Day syndrome)","volume":"80","author":"Howard RO","year":"1967","journal-title":"Am J Ophthalmol"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80524-6"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500120"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388404"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.8.547"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(88)90070-7"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<62::AID-AJMG13>3.0.CO;2-K"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1976.03910040312003"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02369.x"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289002900407"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199910000-00011"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470611"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530414"},{"key":"e_1_2_5_28_1","first-page":"187","article-title":"Schinzel\u2010Giedion syndrome. 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