[Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].
作者信息
Diekmann L, Louis C, Schulte-Kemna E
出版信息
Helv Paediatr Acta. 1977 Nov;32(4-5):375-82.
PMID:617982
Abstract
The paper reports two siblings, 6 and 3 3/4 years old, with a congenital nephropathy (nephronophthisis), retinitis pigmentosa, heart failure and peripheral dysostosis. The severe histological changes of the kidneys with tubular atrophy and interstitial fibrosis caused the death of the older sister at the age of 7 years. The symptoms of our patients are discussed in comparison to the syndrome described by MAINZER et al.
摘要
相似文献
1
[Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].
Helv Paediatr Acta. 1977 Nov;32(4-5):375-82.
2
Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.
Am J Med. 1970 Oct;49(4):556-62. doi: 10.1016/s0002-9343(70)80051-1.
3
Familial nephropathy with retinitis pigmentosa and closed-angle glaucoma.伴有色素性视网膜炎和闭角型青光眼的家族性肾病。
Ophthalmic Paediatr Genet. 1985 Feb;5(1-2):39-49. doi: 10.3109/13816818509007854.
4
Familial metaphyseal dysostosis: a case report.
J Bone Joint Surg Am. 1977 Jul;59(5):690-1.
5
Hereditary sclerosing glomerulopathy in the conorenal syndrome.
Am J Kidney Dis. 1995 May;25(5):792-7. doi: 10.1016/0272-6386(95)90556-1.
6
A bone dysplasia with deafness.一种伴有耳聋的骨发育异常。
Br J Radiol. 1974 May;47(557):244-51. doi: 10.1259/0007-1285-47-557-244.
7
Retinal manifestations in familial juvenile nephronophthisis.家族性青少年肾单位肾痨的视网膜表现
Clin Genet. 1979 Oct;16(4):277-81. doi: 10.1111/j.1399-0004.1979.tb01000.x.
8
Trisomy 9p, a chromosome aberration with distinct radiologic findings.
Radiology. 1979 Jan;130(1):125-33. doi: 10.1148/130.1.125.
9
Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.
Am J Med Genet. 1989 Jul;33(3):341-5. doi: 10.1002/ajmg.1320330311.
10
An unusual familial spondyloepiphyseal dysplasia: "spondyloperipheral dysplasia".一种罕见的家族性脊柱骨骺发育不良：“脊柱周围发育不良”
Birth Defects Orig Artic Ser. 1977;13(3B):149-65.
引用本文的文献
1
A new syndrome with ocular, skeletal and renal involvement.
Pediatr Radiol. 1987;17(3):238-41. doi: 10.1007/BF02388169.
2
A new syndrome with cerebro-oculo-skeletal-renal involvement.
Pediatr Radiol. 1990;20(8):612-4. doi: 10.1007/BF02129073.
3
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.
Pediatr Radiol. 1979 Feb 26;8(1):32-8. doi: 10.1007/BF00973675.
Zotero 插件