Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome.
作者信息
Hernández A, Ramírez M L, Nazará Z, Ocampo R, Ibarra B, Cantú J M
出版信息
Am J Med Genet. 1980;5(2):179-88. doi: 10.1002/ajmg.1320050212.
PMID:6772027
Abstract
Three sibs from a Mexican mestizo family affected with a spondylo-epi-metaphyseal dysplasia were studied. The clinical, radiological, and genetic findings were similar to those previously described in Venezuelan Indians of the Irapa tribe. The present patients permit confirmation of the syndrome and provide evidence for autosomal recessive inheritance. Genetic drift is postulated.
摘要
相似文献
1
Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome.
Am J Med Genet. 1980;5(2):179-88. doi: 10.1002/ajmg.1320050212.
2
[Irapa type spondylo-epiphyso-metaphyseal osteochondrodysplasia. New type of dwarfism with short spine and metatarsals].伊拉帕型脊椎骨骺干骺端骨软骨发育不良。一种伴有短脊柱和跖骨的新型侏儒症
Nouv Presse Med. 1976 Feb 7;5(6):319-23.
3
[Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease].
Neurologia. 2007 Mar;22(2):126-9.
4
Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.
Am J Med Genet. 1992 Aug 1;43(6):989-95. doi: 10.1002/ajmg.1320430616.
5
New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence.一种新型常染色体隐性短肢侏儒症，伴有腓骨缺如、指（趾）异常短小及智力正常。
Am J Med Genet. 1989 Dec;34(4):535-40. doi: 10.1002/ajmg.1320340416.
6
Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, and autosomal recessive syndrome.
Am J Med Genet. 1992 Sep 15;44(2):203-9. doi: 10.1002/ajmg.1320440217.
7
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.脊椎-干骺端-骨骺发育不良（SMED），短肢-手型：一种具有独特特征和组织病理学表现的先天性家族性骨骼发育不良。
Am J Med Genet. 1993 Feb 1;45(3):320-6. doi: 10.1002/ajmg.1320450308.
8
Genetic heterogeneity in spondyloepiphyseal dysplasia congenita.先天性脊柱骨骺发育不良中的基因异质性。
Am J Med Genet. 1984 Jun;18(2):311-20. doi: 10.1002/ajmg.1320180215.
9
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.IV型黏多糖贮积症：突尼斯患者中的N-乙酰半乳糖胺-6-硫酸酯酶突变
Mol Genet Metab. 2006 Mar;87(3):213-8. doi: 10.1016/j.ymgme.2005.11.001.
10
Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder.
Clin Genet. 1980 Sep;18(3):153-9.
引用本文的文献
1
New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.新型X连锁脊椎骨骺发育不良：同一家族中8名患病男性的报告。
J Med Genet. 1994 May;31(5):371-6. doi: 10.1136/jmg.31.5.371.
2
Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl.一名意大利女孩患有关节松弛和严重脊柱侧凸的脊椎骨骺发育不良。
Pediatr Radiol. 1995;25(4):303-5. doi: 10.1007/BF02011108.
3
International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.骨软骨发育不良的国际分类。国际骨骼先天性疾病工作组。
Eur J Pediatr. 1992 Jun;151(6):407-15. doi: 10.1007/BF01959352.
Zotero 插件