Unusual association of congenital malformations: craniosynostosis, heart defect, abnormal intestinal innervation and urogenital abnormalities.
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.
Van Nesselrooij
B P
BP
Clinical Genetics Center Utrecht, The Netherlands. Nesselrooij@pobox.ruu.nl
Spliet
W
W
Beemer
F A
FA
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D003393:Cranial Sutures / Q000002:abnormalities; D003398:Craniosynostoses / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics; D006627:Hirschsprung Disease / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D006848:Testicular Hydrocele / Q000235:genetics; D014430:Twins, Monozygotic; D014469:Umbilical Arteries / Q000002:abnormalities