Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred.
作者信息
Braun H S, Nürnberg P, Tinschert S
机构信息
Bad-Bevensen, Germany.
出版信息
Am J Med Genet. 2001 Jun 1;101(1):74-7. doi: 10.1002/ajmg.1317.
PMID:11343343
Abstract
We describe a new autosomal dominant type of metaphyseal dysplasia (MD) in five generations of a German kindred. The main characteristics are metaphyseal widening and undermodeling of the tubular bones with Erlenmeyer flask-like appearance of the distal femora (typical of MD), with unusually severe varus deformity of the radii and flat exostoses of the long bones localized in the metaphyses. The skull is unaffected. Allelism with craniometaphyseal dysplasia (CMD) was excluded by linkage analysis.
摘要
相似文献
1
Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred.
Am J Med Genet. 2001 Jun 1;101(1):74-7. doi: 10.1002/ajmg.1317.
2
[A new form of familial metaphyseal dysplasia. Preliminary report].
Helv Paediatr Acta. 1982 May;37(2):151-60.
3
Craniometaphyseal dysplasia in six generations of a German kindred.
Am J Med Genet. 1998 May 18;77(3):175-81. doi: 10.1002/(sici)1096-8628(19980518)77:3<175::aid-ajmg1>3.0.co;2-p.
4
Metaphyseal dysplasia of Braun-Tinschert type: report of a Japanese girl.
Am J Med Genet A. 2006 Jun 1;140(11):1234-7. doi: 10.1002/ajmg.a.31257.
5
The Erlenmeyer flask bone deformity in the skeletal dysplasias.
Am J Med Genet A. 2009 Jun;149A(6):1334-45. doi: 10.1002/ajmg.a.32253.
6
Osteopathia striata--Voorhoeve's disease. Review of the roentgen manifestations.
Am J Roentgenol Radium Ther Nucl Med. 1973 Jun;118(2):450-5. doi: 10.2214/ajr.118.2.450.
7
Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multiple exostoses.
Pediatr Radiol. 1984;14(5):356-9. doi: 10.1007/BF01601895.
8
Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.
Am J Med Genet. 2000 Dec 18;95(5):482-91. doi: 10.1002/1096-8628(20001218)95:5<482::aid-ajmg14>3.0.co;2-x.
9
[Radiographic evaluation of skeletal changes in metaphyseal and vertebro-metaphyseal osteochondrodysplasias].
Pol Przegl Radiol. 1983 Mar-Apr;47(2):109-13.
10
[Radius-femoral dysplasia. A new form of hereditary metaphyseal dysplasia].
Cas Lek Cesk. 1989 Aug 4;128(32):1017-8.
引用本文的文献
1
Gaucher Disease in Bone: From Pathophysiology to Practice.
J Bone Miner Res. 2019 Jun;34(6):996-1013. doi: 10.1002/jbmr.3734. Epub 2019 Jun 24.
2
The Erlenmeyer flask bone deformity in the skeletal dysplasias.
Am J Med Genet A. 2009 Jun;149A(6):1334-45. doi: 10.1002/ajmg.a.32253.
Zotero 插件