European Journal of Pediatrics

, Volume 155, Issue 6, pp 477–482 | Cite as

Additional congenital defects in anorectal malformations

  • E. A. M. Hassink
  • P. N. M. A. Rieu
  • B. C. J. Hamel
  • R. S. V. M. Severijnen
  • F. H. J. vd Staak
  • C. Festen
Medical Genetics


From 1974 until 1995 a total of 264 (141 ♂, 123 ♀) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or sequences. One or more ACDs were observed in 67% of the patients. In decreasing order the defects concerned the uro-genital tract (43%), skeleton (38%), gastrointestinal tract (24%), circulation (21%), extremities (16%), face (16%), central nervous system (15%), respiratory tract (5%), and remaining defects (5%). Associations were observed in 49% of the patients, mostly (in 44%) the Vertebral, Anorectal, Cardial, Tracheo-Esophageal, Renal and Limb association. In 5% of the patients syndromes were recognized. Sequences were seen in 2% of the patients. Remarkable is the combination of trisomy 21 and ARM without a fistula. The combination of ARM and the Zellweger syndrome has not been reported before.


Almost all combinations of ARM and ACDs can be classified as an association, syndrome or sequence. ARM-causing agents affect males and females in equal numbers but lead to different expression in the sexes. The origin of the Omphalocele, Extrophia of the bladder, Imperforate anus, Sacral anomalies complex probably differs from that of other forms of ARM.

Key words

Anorectal malformations Additional congenital defects 



additional congenital defect


anorectal malformation


omphalocele extrophia of the bladder, imperforate anus, sacral anomalies


vertebral, anorectal, cardial, tracheo-esophageal, renal, limb


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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • E. A. M. Hassink
    • 1
  • P. N. M. A. Rieu
    • 1
  • B. C. J. Hamel
    • 2
  • R. S. V. M. Severijnen
    • 1
  • F. H. J. vd Staak
    • 1
  • C. Festen
    • 1
  1. 1.Department of Pediatric SurgeryUniversity Hospital NijmegenNijmegenThe Netherlands
  2. 2.Department of Human GeneticsUniversity Hospital NijmegenNijmegenThe Netherlands

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