PMID: 9546831Apr 18, 1998Paper

Unusual association of congenital malformations: craniosynostosis, heart defect, abnormal intestinal innervation and urogenital abnormalities

Clinical Dysmorphology
B P Van NesselrooijF A Beemer

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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