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  • Title: Unusual association of congenital malformations: craniosynostosis, heart defect, abnormal intestinal innervation and urogenital abnormalities.
    Author: Van Nesselrooij BP, Spliet W, Beemer FA.
    Journal: Clin Dysmorphol; 1998 Jan; 7(1):51-3. PubMed ID: 9546831.
    Abstract:
    Monozygotic male twins and an unrelated boy are described who have an unusual association of malformations, i.e. craniosynostosis of the sagittal suture, a cardiac malformation, urogenital anomalies, intestinal malformations and a single umbilical artery. The twins are discordant for these features, except for Hirschsprung disease. No similar cases could be traced in literature. The possible genetic background is discussed.
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