Severe limb malformations in 4p deletion

Abstract

Severe limb anomalies with radial aplasia and hypodactylia are reported in a male newborn with 4p deletion syndrome. In apparent contradiction with previous reports, this finding indicates that the radial aplasia, as frequently observed in patients with ring chromosome 4, seems to be more likely related to the 4p deletion, rather than to the 4q deletion.

Wolf–Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature

“…The ectrodactyly in this case was subsequently thought to be linked to SHFM3 on 10q24. Haspelagh et al 1984 described a fetus with a 4p deletion, WHS, radial aplasia, and oligodactyly. Lurie 1995 noted that ectrodactyly or its equivalent occurs in most cases that include monosomy of 4q33.…”