- Smith-Lemli-Opitz syndrome type III
Distinct dysmorphy syndrome with male pseudohermaphroditismus, multiple malformations and poor prospects of survival. Malformations include micrognathia, cleft palate, and heart defect. Low-set ears, double-outlet right ventricle, ventricular septal defect, gonadal dysgenesis, cleft lip, transposition of the great vessels, right-sided aortic arch, polycystic kidneys, and hypospadias. Inheritance is autosomal recessive or X-linked recessive. Oral contraceptives are suspected as a probable causative agent.
Smith-Lemli-Opitz syndrome III is entered as a separate entity under David W. Smith, American paediatrician and dysmorphologist, 1926-1981.
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46.XY female: Antiandrogenic effect or oral contraceptive?
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A 46.XY infant with uterus, dysgenetic gonads, and multiple anomalies. Humangenetik, Berlin, 1974, 25: 65-68.
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