All issues > Volume 34(4); 1991

Original Article

J Korean Pediatr Soc. 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

Received: September 5, 1990;  Accepted: October 9, 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.

Keywords :4p-Syndrome;Oligomeganephronia;Balanced translocation carrier