European Journal of Pediatrics

, Volume 130, Issue 1, pp 59–64 | Cite as

Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome

  • Shizen Ishikawa
  • Enid F. Gilbert
  • Lorraine F. Meisner
  • Gary Gutcher
  • Jürgen Herrmann
Case Reports

Abstract

A premature infant with trisomy 18 had cardiac defects including parachute mitral valve, coarctation of the aorta, and a subcristal ventricular septal defect.

The parachute mitral valve was funnel-shaped with a moderately-thick cone of fibrous tissue around the annulus and an eccentric orifice.

Many forms of congenital cardiac defects have been described in the 18 trisomy syndrome. However, parachute mitral valve has not, to our knowledge, been part of the spectrum of cardiac defects in trisomy 18.

Other anomalies were absent radii, omphalocele, and cleft palate and cleft lip; these have been observed previously in the 18 trisomy syndrome.

Key words

Parachute mitral valve Trisomy 18 Cardiac defects Extracardiac defects Radial aplasia Omphalocele 

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Copyright information

© Springer-Verlag 1979

Authors and Affiliations

  • Shizen Ishikawa
    • 1
    • 2
  • Enid F. Gilbert
    • 1
    • 2
  • Lorraine F. Meisner
    • 3
    • 4
  • Gary Gutcher
    • 2
  • Jürgen Herrmann
    • 2
    • 5
  1. 1.Department of PathologyMadison
  2. 2.Department of PediatricsMadison
  3. 3.Department of Preventive MedicineMadison
  4. 4.Wisconsin State Laboratory of HygieneMadison
  5. 5.Wisconsin Clinical Genetics Center of the Department of Medical GeneticsUniversity of Wisconsin Center for Health Sciences and Medical SchoolMadisonUSA

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