P Sikora, M Zajaczkowska, E Katska, G Niedzielska
Branchio-oto-renal syndrome is a rare autosomal dominant disorder of the first and second embryonic branchial arches and the urinary tract. It is characterized in its full expression by branchial fistulas or cysts, preauricular pits, outer, middle and inner ear defects, hearing loss, lachrymal duct stenosis, facial paralysis and mental retardation. Renal anomalies may range from mild hypoplasia to complete absence. Our report demonstrates the patient with classical BOR syndrome and severe renal insufficiency since infancy up to end stage renal failure at 18 years of age caused by bilateral renal hypoplasia...
April 2001: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
R Salomon, A L Tellier, T Attie-Bitach, J Amiel, M Vekemans, S Lyonnet, P Dureau, P Niaudet, M C Gubler, M Broyer
BACKGROUND: Oligomeganephronia (OMN) is a rare congenital and usually sporadic anomaly. It is characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons. The mechanisms involved in this deficient nephrogenesis are unknown. The paired box transcription factor PAX2 plays a fundamental role in renal development. Heterozygous Pax2 mutants in mice are characterized by renal hypoplasia and retinal defects, and in humans, PAX2 mutations have been described in the renal-coloboma syndrome...
February 2001: Kidney International
M Holzmüller
The branchio-oto-renal syndrome (BOR syndrome) is characterized by auricular abnormalities, lateral cervical fistulas and preauricular tags. The hearing impairment may be a conductive, a sensorineural or a mixed hearing loss. The renal disease is oligomeganephronia, a bilateral, congenital renal abnormality with reduced numbers of nephrons. The BOR syndrome is an autosomal-dominant disease. An 8-year-old girl with preauricular tags, cervical fistulas and auricular abnormalities is reported upon. She has a mixed hearing loss and anomalies in the vestibular system...
November 2000: HNO
K Keymolen, R Van Damme-Lombaerts, A Verloes, J P Fryns
In 1987 Buttiens and Fryns [1987: Am J Med Genet 27:651-660] reported on two sibs, brother and sister, with severe distal limb defects, micrognathia, and mild to moderate mental retardation. The male also showed severe myopia and oligomeganephronia. To the best of our knowledge, no other similar patients have been described since. We report on a boy with a similar phenotype. .
July 3, 2000: American Journal of Medical Genetics
C E Anderson, R Wallerstein, S T Zamerowski, C Witzleben, J R Hoyer, L Gibas, L G Jackson
We present a patient with features suggestive of Seckel syndrome who was found to be mosaic for ring 4 chromosome. Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe retardation, usually thought to be inherited as an autosomal recessive condition. In addition, our patient had oligomeganephronia, a rare and usually sporadic renal malformation, previously reported in two other patients with abnormalities of chromosome 4...
October 31, 1997: American Journal of Medical Genetics
T Kawamura
No abstract text is available yet for this article.
1997: Ryōikibetsu Shōkōgun Shirīzu
A A al Salloum, S A al Rasheed, M A al Husain, M M al Mugeiren, A S al Rikabi, M O al Sohaibani
The clinical biochemical, radiological, and histological data of a 5-year-old boy with severe limb deformities and renal failure due to oligomeganephronia and renal hypoplasia are reported. This patient represents another example of acrorenal syndrome. This boy has a severe visual defect due to pigmentory retinopathy, which has not been reported previously.
December 1996: Pediatric Nephrology
T Ohshima, S Inaba, M Arai, Y Sakai, K Kurose, S Ishihara, T Takahashi, R Takai, H Matukura, R Yoshida
We report here a nine-year-old boy with oligomeganephronia. The patient had proteinuria and morphometric analysis of the renal biopsy specimen confirmed the diagnosis of oligomeganephronia. We employed a color image analyzer (OLYMPUS Corp.) to determine the glomerular surface area and the number of glomeruli per mm2 of the renal cortex of the patient. All the scanned glomeruli showed marked hypertrophy; the mean maximal surface area for the 5 glomeruli was 46 x 10(3) microns 2, which is approximately 4 times larger than that of normal children of the same age...
March 1994: Nihon Jinzo Gakkai Shi
S H Park, J G Chi
Oligomeganephronia is a rare congenital renal hypoplasia that is characterized histologically by a reduction in the number of reniculi with compensatory hypertrophy of the glomeruli and proximal renal tubules. Oligomeganephronia has generally been regarded as a congenital but not genetic disease. Kusuyama et al. first suggested that oligomeganephronia might be associated with a chromosomal anomaly, namely 4p monosomy syndrome. Their assumption originated from the fact that external anomalies of their cases of oligomeganephronia are very much like those described in 4p monosomy syndrome...
November 1993: Pediatric Pathology
S V Foster, E P Hawkins
The histopathology and morphometric findings in two cases of oligomeganephronia occurring in a fetus and a preterm infant are reported. Metanephric blastema was decreased in the kidney from an 18-week fetus and was absent in the kidney from a liveborn preterm infant of 33 weeks gestation. These findings support the hypothesis that a primary deficiency of metanephric blastema may be a pathogenetic mechanism of oligomeganephronia.
November 1994: Pediatric Pathology
S Taniguchi, Y Terai, H Murakawa, S Oriso, T Sakuma, R Satodate, N Tomisawa
No abstract text is available yet for this article.
March 1982: Nihon Jinzo Gakkai Shi
M Lam, D Halverstadt, G Altshuler, J E Wenzl
No abstract text is available yet for this article.
March 1982: American Journal of Kidney Diseases
M Miltényi, L Balogh, K Schmidt, Z Detre, T Hernády, A Czeizel
The case of a 2-year-old boy with associated anomalies of the limbs and the urinary system is reported. Similar to cases reported earlier he presented a split hand and foot syndrome, but differed from previously reported cases by the presence of bilateral renal hypoplasia leading to end stage renal failure. Renal histology disclosed oligomeganephronia.
April 1984: European Journal of Pediatrics
Z Detre, G Tarján, O Külkey, L Balogh, K Schmidt
No abstract text is available yet for this article.
January 1984: Morphologiai és Igazságügyi Orvosi Szemle
M McGraw, S Poucell, J Sweet, R Baumal
Oligomeganephronia (OMN) is characterized by a reduced number of nephrons, with compensatory hypertrophy of the remaining glomeruli and tubules. The clinico-pathological features of six cases seen at The Hospital for Sick Children, Toronto were reviewed. One patient presented in infancy (10 days of age), the others between 12.8 and 14.5 years (mean 13.7 years), with long-standing polydipsia and polyuria, enuresis, and growth retardation. All patients had proteinuria which tended to increase as the disease progressed...
June 1984: International Journal of Pediatric Nephrology
I Yui, M Awazu, Y Takeuchi, J Fukuda, T Hanada, H Sakaguchi
No abstract text is available yet for this article.
November 1984: Nihon Jinzo Gakkai Shi
J E Carter, D S Lirenman
No abstract text is available yet for this article.
December 1970: American Journal of Diseases of Children
I B Elfenbein, H J Baluarte, A B Gruskin
No abstract text is available yet for this article.
March 1974: Archives of Pathology
T Morita, J Wenzl, J McCoy, J Porch, P Kimmelstiel
No abstract text is available yet for this article.
January 1973: American Journal of Clinical Pathology
M R Weir, J A Salinas, P C Rawlings
Oligomeganephronia, characterized clinically be early renal failure and histologically by large, sparse glomeruli, is of undetermined etiology. This is the first documented report of an intrauterine fetal demise of one twin in association with oligomeganephronia in the other, and suggests that these two conditions may be related etiologically. The suggested mechanism is a renal vascular insult, late in the pregnancy, as the precipitating event.
1985: Nephron
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