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The pathologic anatomy of the G syndrome
Authors:Enid F. Gilbert  Chirane Viseskul  Harland W. Mossman  John M. Opitz
Affiliation:(1) University of Wisconsin Medical School, 53706 Madison, Wisconsin, USA
Abstract:A detailed anatomic study of the organs of a stillborn male infant with the G syndrome was made.The malformations consisted of a subtle physiognostic appearance with severe micrognathia, penoscrotal hypospadias with descended testes, and failure of closure of the laryngotracheal groove. In addition, respiratory tract defects included lack of lung fissures, short trachea with a high carina and a symmetrical bronchial tree. Minor cardiac malformations of systemic and cardiac venous drainage, and urinary tract anomalies were also present. Developmental, clinical and genetical aspects of the G syndrome were discussed.Contributed in part as Paper No. 1509 from the University of Wisconsin Genetics Laboratory, and contribution VIC: Studies of Human Malformation Syndromes from the Birth Defects Research Center, Department of Pediatrics, University of Wisconsin Medical School.Supported in part by NIH Grants GM 15422, GM 08217, 5 KO 4 HD 18982, and by a Grant from the National Foundation-March of Dimes.
Keywords:G Syndrome  Malformation Syndrome  Autosomal Dominant Inheritance  Laryngotracheal Malformations  Cardiopulmonary Malformations  Genito-Urinary Defects
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