{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:08Z","timestamp":1761717968850},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":10015,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1978,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hypertelorism and hypospadias are described in four unrelated boys; bilateral cleft lip and cleft palate were also present in two of the boys and mild mental retardation in another. These features are compatible with both the G and BBB syndromes. When present, laryngotracheoesophageal anomalies or respiratory and swallowing difficulties are characteristic features of the G syndrome; otherwise facial features may be useful in distinguishing the G and BBB syndromes. <jats:italic>Cases 1<\/jats:italic> and <jats:italic>2<\/jats:italic> had anteverted nares and a broad and flat nasal bridge, and <jats:italic>Case 1<\/jats:italic> had shortened palpebral fissures, all consistent with the G syndrome. In contrast, <jats:italic>Cases 3<\/jats:italic> and <jats:italic>4<\/jats:italic> had a high and broad nasal bridge as previously described in the BBB syndrome. The father of <jats:italic>Case 1<\/jats:italic> had mild hypertelorism and first\u2010degree hypospadias, demonstrating autosomal dominant inheritance in the G syndrome. The mothers of <jats:italic>Cases 2, 3<\/jats:italic>, and <jats:italic>4<\/jats:italic> all had mild hypertelorism consistent with autosomal dominant inheritance and partial male\u2010sex limitation, as previously proposed for both the G and BBB syndromes.<\/jats:p>","DOI":"10.1002\/ajmg.1320020204","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:28:50Z","timestamp":1118510930000},"page":"131-144","source":"Crossref","is-referenced-by-count":40,"title":["The G and BBB syndromes: Case presentations, genetics, and nosology"],"prefix":"10.1002","volume":"2","author":[{"given":"Steve J.","family":"Funderburk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ray","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_2","volume-title":"The Clinical Delineation of Birth Defects II. 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