XY Sex-reversed campomelia.

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作者信息

Trompeter R S, Shrubb V, Heaton J M, Berry A C

出版信息

Eur J Pediatr. 1981 Sep;137(1):59-61. doi: 10.1007/BF00441171.

DOI:10.1007/BF00441171

PMID:7274302

Abstract

摘要

相似文献

XY Sex-reversed campomelia.

Eur J Pediatr. 1981 Sep;137(1):59-61. doi: 10.1007/BF00441171.

[Mesomelic dwarfism Langer type associated to mixed gonadal dysgenesis, whit cariotipe 46,XY/45 X (author's transl)].

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XY sex-reversed campomelia- possibly an X-linked disorder?XY性反转性先天性软骨发育不全——可能是一种X连锁疾病？

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[Campomelic syndrome (author's transl)].[弯肢侏儒综合征（作者译）]

Monatsschr Kinderheilkd (1902). 1978 Nov;126(11):687-9.

The "campomelic" syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformities.“弯肢”综合征。寿命短的侏儒症，伴有呼吸窘迫、肌张力减退、特殊面容以及多处骨骼和软骨畸形。

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Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis.一名患有46, XY完全性性腺发育不全患者的性腺母细胞瘤。

Turk J Pediatr. 2016;58(5):538-540. doi: 10.24953/turkjped.2016.05.013.

Gonadal dysgenesis (46,XY) and gonocytoma.性腺发育不全（46，XY）和生殖细胞瘤。

J Reprod Med. 1980 Dec;25(6):304-8.

[Camptomelic dysplasia associated with true hermaphroditism].[与真两性畸形相关的弯肢性发育不良]

An Esp Pediatr. 1984 May;20(8):792-9.

45, X/46, XY gonadal dysgenesis. A case report.

J Reprod Med. 1983 Mar;28(3):215-6.

Campomelic syndrome in phenotypic females with 46,XY chromosomes: evidence of genetic heterogeneity.

Clin Pediatr (Phila). 1981 Mar;20(3):214-6. doi: 10.1177/000992288102000308.

本文引用的文献

Abnormalities of sexual differentiation in campomelic dwarfs.先天性脊柱骨骺发育不良性侏儒症患者的性分化异常。

Clin Genet. 1980 Sep;18(3):223-5. doi: 10.1111/j.1399-0004.1980.tb00876.x.

The camptomelic syndrome in two female siblings.两名女性同胞中的弯肢侏儒综合征。

Clin Genet. 1980 Aug;18(2):137-41. doi: 10.1111/j.1399-0004.1980.tb01024.x.

Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases.

Eur J Pediatr. 1980 Mar;133(2):131-8. doi: 10.1007/BF00441581.

Campomelic dysplasia. Further elucidation of a distinct entity.弯肢性发育异常。对一种独特病症的进一步阐释。

Am J Dis Child. 1980 Mar;134(3):285-9. doi: 10.1001/archpedi.1980.02130150039010.

Am J Dis Child. 1972 Oct;124(4):485-96. doi: 10.1001/archpedi.1972.02110160023002.

46, XY female: anti-androgenic effect of oral contraceptive?46，XY女性：口服避孕药的抗雄激素作用？

Lancet. 1970 Sep 26;2(7674):667-8. doi: 10.1016/s0140-6736(70)91441-8.

Heterogeneity in the campomelic syndromes. Long-and short-bone varieties.先天性弯曲综合征的异质性。长骨型和短骨型。

Radiology. 1976 Sep;120(3):641-7. doi: 10.1148/120.3.641.

Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies.

Clin Genet. 1978 Jun;13(6):489-99. doi: 10.1111/j.1399-0004.1978.tb01204.x.

Camptomelic dwarfism. A genetically determined mesenchymal disorder combined with sex reversal.弯曲侏儒症。一种由基因决定的间充质疾病，并伴有性反转。

Hereditas. 1977;86(1):51-62. doi: 10.1111/j.1601-5223.1977.tb01212.x.

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