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Grebe chondrodysplasia and brachydactyly in a family.

作者信息

Kumar D, Curtis D, Blank C E

出版信息

Clin Genet. 1984 Jan;25(1):68-72. doi: 10.1111/j.1399-0004.1984.tb00465.x.

DOI:10.1111/j.1399-0004.1984.tb00465.x
PMID:6705242
Abstract

A family is reported in which various skeletal abnormalities have been segregating over three generations. The Great-grandfather (11) of the consultand had features consistent with Grebe chondrodysplasia. The other members of the family have brachydactyly, radiologically characterised by short first metacarpals and short middle phalanges of the index and little fingers. The possibility of association of familial brachydactyly and Grebe chondrodysplasia is discussed. An attempt has been made to deal with the genetic counselling problem in this particular family.

摘要

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引用本文的文献

1
Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.Grebe型软骨发育不良:生长分化因子5保守半胱氨酸中的一种新型错义突变。
J Bone Miner Metab. 2008;26(6):648-52. doi: 10.1007/s00774-008-0853-5. Epub 2008 Nov 1.
2
Grebe syndrome: a very severely affected case.Grebe综合征:一例病情极为严重的病例。
J Med Genet. 1995 Apr;32(4):326-7. doi: 10.1136/jmg.32.4.326-a.
3
Severe short-limb dwarfism resembling Grebe chondrodysplasia.
Hum Genet. 1986 Dec;74(4):386-90. doi: 10.1007/BF00280491.
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Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.新发现的肢体/骨盆发育不全/发育不全综合征的病理特征及产前诊断
J Med Genet. 1988 Oct;25(10):687-97. doi: 10.1136/jmg.25.10.687.
5
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.一种严重的常染色体隐性肢端中胚层发育不良,亨特 - 汤普森型,并与格雷贝型进行比较。
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