TY - JOUR
T1 - New variant of acro-renal field defect
AU - Scheuerman, Oded
AU - Horev, Gadi
AU - Merlob, Paul
PY - 2003/6/15
Y1 - 2003/6/15
N2 - We describe two patients with a new variant of acro-renal field defect. The first was a fullterm, 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.
AB - We describe two patients with a new variant of acro-renal field defect. The first was a fullterm, 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.
KW - Acro-renal field defect
KW - Ectrodactyl
KW - Field defect
KW - Horseshoe kidney
KW - Pre-axial polydactyly
UR - http://www.scopus.com/inward/record.url?scp=0041821606&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.20193
DO - 10.1002/ajmg.a.20193
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AN - SCOPUS:0041821606
SN - 1552-4825
VL - 119 A
SP - 360
EP - 362
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -