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Heterogeneity of Chondrodysplasia punctata.

作者信息

Spranger J W, Opitz J M, Bidder U

出版信息

Humangenetik. 1971;11(3):190-212. doi: 10.1007/BF00274739.

DOI:10.1007/BF00274739
PMID:5544780
Abstract
摘要

相似文献

1
Heterogeneity of Chondrodysplasia punctata.点状软骨发育不良的异质性。
Humangenetik. 1971;11(3):190-212. doi: 10.1007/BF00274739.
2
[The congenital disease of stippled epiphyses and its ophthalmologic manifestations].[点状骨骺先天性疾病及其眼科表现]
Arch Ophtalmol Rev Gen Ophtalmol. 1969 Jun-Jul;29(6):575-86.
3
Radiological case of the month. Dominant X-linked chondrodysplasia punctata.本月放射病例。显性X连锁点状软骨发育不良。
Am J Dis Child. 1988 Nov;142(11):1233. doi: 10.1001/archpedi.1988.02150110111032.
4
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.格林伯格发育异常（HEM）和致死性X连锁显性康拉迪-于纳曼点状软骨发育不良（CDPX2）：两例具有重叠表型的病例报告
J Med Genet. 2003 Dec;40(12):e129. doi: 10.1136/jmg.40.12.e129.
5
Chondrodysplasia punctata with retinal colobomas: radiographic findings.点状软骨发育不良伴视网膜缺损：影像学表现
J Perinatol. 1998 Mar-Apr;18(2):152-5.
6
Genetics casebook. X-linked dominant chrondrodyplasia punctata without stippled epiphyses.遗传学案例集。无骨骺点状的X连锁显性点状软骨发育不良。
J Perinatol. 1997 Mar-Apr;17(2):168-71.
7
[X-chromosome dominant chondrodysplasia punctata (Happle syndrome). Lyonization of the eyelashes?].[X染色体显性点状软骨发育不良（哈普尔综合征）。睫毛的X染色体失活现象？]
Hautarzt. 1994 Jan;45(1):42-4. doi: 10.1007/pl00013255.
8
Chondrodysplasia punctata in a nine-year-old girl presenting as "unclassified multiple malformation syndrome".
Pediatr Radiol. 1980 Jul;9(4):236-8. doi: 10.1007/BF01092952.
9
Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?点状软骨发育不良伴多发先天性异常：一种新综合征？
Pediatr Radiol. 1998 Oct;28(10):790-3. doi: 10.1007/s002470050466.
10
[Chondrodystrophia calcificans congenita].[先天性钙化性软骨营养障碍]
Ugeskr Laeger. 1970 May 14;132(20):937-9.

引用本文的文献

1
Chondrodysplasia Punctata: Early Diagnosis and Multidisciplinary Management of Conradi-Hünermann-Happle Syndrome (CDPX2).点状软骨发育不良：康拉迪 - 于内曼 - 哈普勒综合征（CDPX2）的早期诊断与多学科管理
Cureus. 2024 Dec 12;16(12):e75605. doi: 10.7759/cureus.75605. eCollection 2024 Dec.
2
A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate.一例新生儿肢根型点状软骨发育不良病例。
Cureus. 2022 Nov 20;14(11):e31702. doi: 10.7759/cureus.31702. eCollection 2022 Nov.
3
A primer on skeletal dysplasias.骨骼发育不良概述。

本文引用的文献

1
Chondrodystrophia calcificans congenita; report of two cases.先天性钙化性软骨营养障碍；两例报告。
J Bone Joint Surg Am. 1947 Apr;29(2):509-14.
2
Two Cases, and Specimens from a Third Case, of Punctate Epiphyseal Dysplasia.点状骨骺发育不良两例及第三例病例的标本
Proc R Soc Med. 1936 May;29(7):745-7. doi: 10.1177/003591573602900717.
3
Congenital Deformities with Stippled Epiphyses and Congenital Cataract.伴有骨骺点状钙化的先天性畸形与先天性白内障。
Jpn J Radiol. 2022 Mar;40(3):245-261. doi: 10.1007/s11604-021-01206-5. Epub 2021 Oct 25.
4
Peroxisome biogenesis disorders.过氧化物酶体生物发生障碍
Transl Sci Rare Dis. 2016 Nov 7;1(2):111-144. doi: 10.3233/TRD-160003.
5
Peroxisomes in brain development and function.过氧化物酶体在大脑发育和功能中的作用。
Biochim Biophys Acta. 2016 May;1863(5):934-55. doi: 10.1016/j.bbamcr.2015.12.005. Epub 2015 Dec 11.
6
Peroxisomal Disorders: A Review on Cerebellar Pathologies.过氧化物酶体疾病：小脑病理学综述
Brain Pathol. 2015 Nov;25(6):663-78. doi: 10.1111/bpa.12290. Epub 2015 Aug 19.
7
The neurology of rhizomelic chondrodysplasia punctata.棘状毛囊发育不良性多发性骨骺发育不良的神经病学。
Orphanet J Rare Dis. 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174.
8
Progressive joint limitations as the first alarming signs in a boy with short - limbed dwarfism: A case report.进行性关节受限作为一名短肢侏儒症男孩的首个警示信号：病例报告
Cases J. 2008 Aug 19;1(1):112. doi: 10.1186/1757-1626-1-112.
9
Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata.出生后最初几个小时内的结肠穿孔与点状骨骺发育不良相关。
Pediatr Surg Int. 2005 Aug;21(8):662-4. doi: 10.1007/s00383-005-1426-5. Epub 2005 Oct 13.
10
Vitreoretinal abnormalities in the Conradi-Hunermann form of chondrodysplasia punctata.点状软骨发育不良Conradi-Hunermann型中的玻璃体视网膜异常。
Br J Ophthalmol. 2004 Jul;88(7):973-4. doi: 10.1136/bjo.2003.038638.
Proc R Soc Med. 1931 Mar;24(5):564-6. doi: 10.1177/003591573102400518.
4
A Dwarf with Stippled Epiphyses.一名患有骨骺点状发育不良的侏儒症患者。
Proc R Soc Med. 1930 Jul;23(9):1329-31. doi: 10.1177/003591573002300919.
5
Dysplasia epiphysialis punctata; synonyms; stippled epiphyses, chondrodystrophia calcificans congenita (Hünermann).点状骨骺发育异常；同义词：骨骺点状症、先天性钙化性软骨营养障碍（许内曼病）
J Bone Joint Surg Br. 1949 Feb;31B(1):114-22.
6
[Special forms of fetal chondrodysplasia (chondrodystrophy), in particular congenital calcifying chondrodysplasia].[胎儿软骨发育异常（软骨营养障碍）的特殊形式，尤其是先天性钙化性软骨发育异常]
Osterr Z Kinderheilkd Kinderfuersorge. 1950;4(2):165-80.
7
Follicular atrophoderma and pseudopelade associated with chondrodystrophia calcificans congenita.毛囊性皮肤萎缩症和假性斑秃与先天性钙化性软骨营养障碍相关。
J Invest Dermatol. 1949 Nov;13(5):233-47, illust. doi: 10.1038/jid.1949.95.
8
Stippled epiphyses in the newborn and in infants.
Acta Radiol (Stockh). 1952 Mar-Apr;37(3-4):291-307. doi: 10.3109/00016925209139884.
9
Chondrodystrophia calcificans congenita (dysplasia epiphysialis punctata).先天性钙化性软骨营养障碍（点状骨骺发育异常）
Bull Hosp Joint Dis. 1951 Oct;12(2):514-27.
10
Chondrodystrophia calcificans congenita; report of a case.先天性钙化性软骨营养障碍；病例报告
Radiology. 1952 Mar;58(3):415-20. doi: 10.1148/58.3.415.