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We report on 19 infants with a phenotype we propose to call Smith\u2010Lcmli\u2010Opitz syndrome (SLOS)\u2010Type II, in which major structural abnormalities, male pseudohermaphroditism, and early lethality are common. Of these 19 patients, 18 had postaxial hexaclactyly, 16 had congenital heart defect, 13 had cleft palate, and 10 had cataracts. Unusual findings seen in those patients at autopsy included Hirschsprung \u201cdisease\u201d in five patients, unilobatod lungs in six, large adrenals in four, and pancreatic islet cell hypciplasia in three. Comparison of our cases to 19 similar literature cases suggests the existence of a distinct phenotype that may be separate from SLOS as originally described. It is also inherited as an autosomal recessive, as documented by occurrence in one pair of sibs in this study and recurrence in three reported families.<\/jats:p>","DOI":"10.1002\/ajmg.1320260110","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:45:18Z","timestamp":1118544318000},"page":"45-57","source":"Crossref","is-referenced-by-count":192,"title":["Smith\u2010Lemli\u2010Opitz syndrome\u2010type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality"],"prefix":"10.1002","volume":"26","author":[{"given":"Cynthia J. 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