Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.
作者信息
Lowry R B, Wood B J, Cox T A, Hayden M R
机构信息
Department of Pediatrics, University of Calgary, Alberta, Canada.
出版信息
Am J Med Genet. 1989 Jul;33(3):341-5. doi: 10.1002/ajmg.1320330311.
PMID:2801768
Abstract
In 1975, we reported two brothers with epiphyseal dysplasia, microcephaly, and nystagmus; one of them also had mild mental retardation. Here we present information on the natural history, particularly with respect to the development of a new visual problem, namely, retinitis pigmentosa.
摘要
相似文献
1
Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.
Am J Med Genet. 1989 Jul;33(3):341-5. doi: 10.1002/ajmg.1320330311.
2
Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus.
Clin Genet. 1975 Oct;8(4):269-74. doi: 10.1111/j.1399-0004.1975.tb01502.x.
3
Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: expanded spectrum of Lowry-Wood syndrome?
Am J Med Genet. 1989 Jul;33(3):336-40. doi: 10.1002/ajmg.1320330310.
4
Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.
Am J Med Genet. 1986 May;24(1):33-9. doi: 10.1002/ajmg.1320240106.
5
6
Retinitis pigmentosa associated with ectopia lentis.
Arch Ophthalmol. 2002 Jun;120(6):852-4.
7
The hip in heritable conditions of connective tissue.
Clin Orthop Relat Res. 1973 Jan-Feb(90):33-49.
8
Congenital see-saw nystagmus associated with retinitis pigmentosa.
Ann Ophthalmol. 1986 Dec;18(12):346-9.
9
Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome".
Eur J Pediatr. 2002 Mar;161(3):170-2. doi: 10.1007/s00431-001-0882-8.
10
A syndrome of dwarfism, mental retardation, lens opacities, nystagmus, strabismus, cryptorchidism and absent patellae. Report of 2 cases in siblings.
Indian J Pediatr. 1970 May;37(268):197-9. doi: 10.1007/BF02753084.
引用本文的文献
1
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
Hum Genet. 2018 Dec;137(11-12):905-909. doi: 10.1007/s00439-018-1950-8. Epub 2018 Oct 27.
2
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
Am J Med Genet A. 2018 Feb;176(2):465-469. doi: 10.1002/ajmg.a.38581. Epub 2017 Dec 19.
Zotero 插件