We describe two patients with a new variant of acro-renal field defect. The first was a full-term, small-for-gestational-age female infant who showed preaxial polydactyly of the right hand and horseshoe kidney on abdominal ultrasonographic examination. In addition, there was a single umbilical artery and some mild facial errors of morphogenesis. The second patient, a full-term male infant, had horseshoe kidney and left hand ectrodactyly. Various renal abnormalities have been described in the literature, but there are no reports on horseshoe kidney as part of acro-renal field defect. We suggest that acro-renal field defect should not be regarded as a definitive diagnosis, but only as a starting point for the search for various conditions.

DOI: 10.1002/ajmg.a.20193
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