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由于软骨发育不全和先天性脊柱骨骺发育不良的双重杂合性导致的致死性骨骼发育异常。

Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

作者信息

Young I D, Ruggins N R, Somers J M, Zuccollo J M, Rutter N

机构信息

Department of Clinical Genetics, City Hospital, Nottingham.

出版信息

J Med Genet. 1992 Nov;29(11):831-3. doi: 10.1136/jmg.29.11.831.

DOI:10.1136/jmg.29.11.831
PMID:1453438
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016183/
Abstract

A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.

摘要

本文描述了一名患有致死性短肢侏儒症的男婴。他的父亲患有先天性脊柱骨骺发育不良，母亲患有软骨发育不全。据信，该婴儿遗传了这两种疾病，它们的共同作用主要由于严重的肺发育不全导致了早期死亡。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72b7/1016183/cddf6a680ea7/jmedgene00025-0075-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72b7/1016183/124a3a1b3f39/jmedgene00025-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72b7/1016183/010819e075e3/jmedgene00025-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72b7/1016183/6c37e8279527/jmedgene00025-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72b7/1016183/cddf6a680ea7/jmedgene00025-0075-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72b7/1016183/124a3a1b3f39/jmedgene00025-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72b7/1016183/010819e075e3/jmedgene00025-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72b7/1016183/6c37e8279527/jmedgene00025-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72b7/1016183/cddf6a680ea7/jmedgene00025-0075-b.jpg

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2
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.双等位基因FGFR3致病性变异导致的软骨发育不全新表型。
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Skeletal dysplasias.骨骼发育异常

本文引用的文献

1
Two clinical variants of spondylo-epiphysial dysplasia congenita.先天性脊椎骨骺发育不良的两种临床变异型。
J Bone Joint Surg Br. 1982;64(4):435-41. doi: 10.1302/0301-620X.64B4.6807992.
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Homozygous achondroplasia with survival beyond infancy.
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Dominance and homozygosity in man.
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Clin Perinatol. 2015 Jun;42(2):301-19, viii. doi: 10.1016/j.clp.2015.03.003. Epub 2015 Apr 8.
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.
提示软骨发育不全与软骨发育低下基因等位性的观察结果。
J Med Genet. 1973 Mar;10(1):11-6. doi: 10.1136/jmg.10.1.11.
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Achondroplasia-hypochondroplasia complex.
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6
Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.反对编码II型胶原蛋白（COL2A1）的结构基因作为软骨发育不全突变位点的证据。
J Med Genet. 1986 Feb;23(1):19-22. doi: 10.1136/jmg.23.1.19.
7
Achondroplasia is not caused by mutation in the gene for type II collagen.软骨发育不全不是由II型胶原蛋白基因的突变引起的。
Am J Med Genet. 1988 Apr;29(4):955-61. doi: 10.1002/ajmg.1320290433.
8
Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.软骨发育不全中的II型胶原蛋白缺陷。I. 脊椎骨骺发育不良。
Am J Hum Genet. 1989 Jul;45(1):5-15.
9
Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients.软骨发育不全患者的生长特征及对生长激素治疗的反应：12q23染色体上胰岛素样生长因子I基因在部分此类患者中的疾病遗传连锁。
Clin Endocrinol (Oxf). 1991 Apr;34(4):265-74. doi: 10.1111/j.1365-2265.1991.tb03765.x.
10
A new estimate of the achondroplasia mutation rate.
Clin Genet. 1977 Jan;11(1):31-8. doi: 10.1111/j.1399-0004.1977.tb01274.x.