January 1973

Reduction Malformations and Chromosome Anomalies

Author Affiliations

From the Children's Hospital Research Foundation (Drs. Bofinger and Warkany), the University Affiliated Clinical Program for the Mentally Retarded (Dr. Dignan), and University of Cincinnati and the Newborn Service of the Good Samaritan Hospital (Dr. Schmidt), Cincinnati.

Am J Dis Child. 1973;125(1):135-143. doi:10.1001/archpedi.1973.04160010095024

Three infants were born with serious limb defects (reduction malformations) and chromosomal anomalies. Other cases of skeletal malformations of the extremities that are associated with cytogenetic changes have been previously reported. The chromosomal anomaly usually is betrayed by associated malformations rather than by the type of limb defect. The recognition of the cytogenetic basis of limb malformation is of importance because it may influence the individual prognosis and genetic counseling.