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A case of 4p- syndrome with oligomeganephronia.

Journal of the Korean Pediatric Society 1991;34(4):558-565.
Published online April 30, 1991.
A case of 4p- syndrome with oligomeganephronia.
Ri Sa Lee1, Bong Sik Kong1, Beyong Il Kim1, Sang Kyu Park1, Ho Jin Park1, Soong Deok Lee2, Je Geun Chi2
1Department of Pediatrics, Red Cross Hospital, Seoul, Korea
2Department of Pathology, Seoul National University, College of Medicine, Seoul, Korea
Oligomeganephronia가 수반된 4p-증후군 1례
이리사1, 공봉식1, 김병일1, 박상규1, 박호진1, 이숭덕2, 지제근2
1서울적십자병원 소아과
2서울대학교 의과대학 병리학교실
Received: 5 September 1990   • Accepted: 9 October 1990
Abstract
The 4p_ syndrome results from structural deficiency of chromosome 4. We experienced a patient of 4p~ syndrome who all features of already described Wolf syndrome, i.e., prominent glabella, hypertelorism, broad beak nose, cleft lip and palate, kyphoscoliosis, hypospadia, etc.. Postmortem examination revealed multiple visceral anomalies, including large atrial septal defect, diaphragmatic eventration, intestinal malrotation, ankyloglossia, and hemivertebrae. The kidneys showed a marked simple hypoplasia weighing 3.1 gm together. The fetal lobulation was completely effaced and a marked reduction of reniculi was present. Histologically, the strata of glomeruli in the cortex were about 3—4 and a remarkable reduction of the number of the glomerulus was noted, along with glomerular enlargement and tubular dilatation. Chromosome study of the patient showed 46, XY, del. ⑷(pl2:>, and the father and a brother of the patient were found to have a balanced translocation, 46, XY, t(4;6)(pl2;p23). This case suggests strongly that oligomeganephronia is causally related to 4p~ syndrome because the kidney findings have not been fully evaluated in this syndrome in the literature.
Key Words: 4p-Syndrome, Oligomeganephronia, Balanced translocation carrier


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