无明显弯曲肢体的弯肢性发育不良
Campomelic dysplasia without overt campomelia.
作者信息
Friedrich U, Schaefer E, Meinecke P
机构信息
Cytogenetic Laboratory, Aarhus Psychiatric Hospital, Risskov, Denmark.
出版信息
Clin Dysmorphol. 1992 Jul;1(3):172-8.
PMID:1342867
Abstract
We describe a newborn girl with virtually all the characteristics of campomelic dysplasia except for overt campomelia. This observation and similar cases previously reported indicate that campomelia is a variable feature in campomelic dysplasia. In contrast, hypoplasia of the scapulae is a constant finding and should be regarded as a diagnostic significant sign.
摘要
我们描述了一名患有弯肢侏儒症几乎所有特征的新生女婴，但没有明显的弯肢症状。这一观察结果以及先前报道的类似病例表明，弯肢是弯肢侏儒症的一个可变特征。相比之下，肩胛骨发育不全是一个持续存在的表现，应被视为具有诊断意义的体征。
相似文献
1
Campomelic dysplasia without overt campomelia.无明显弯曲肢体的弯肢性发育不良
Clin Dysmorphol. 1992 Jul;1(3):172-8.
2
Campomelic dysplasia without overt campomelia.
Clin Dysmorphol. 1993 Apr;2(2):180-2.
3
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.
4
[Congenital spondyloepiphyseal dysplasia].[先天性脊椎骨骺发育不良]
Radiologe. 1976 Jul;16(7):286-7.
5
Asymmetric and symmetric long bone bowing in two sibs: an apparently new bone dysplasia.两例同胞兄弟姐妹出现不对称和对称长骨弯曲：一种明显的新型骨发育异常。
Am J Med Genet. 1993 Nov 15;47(7):1072-7. doi: 10.1002/ajmg.1320470728.
6
Acampomelic campomelic dysplasia.
Pediatr Radiol. 1989;20(1-2):90-3. doi: 10.1007/BF02010643.
7
[Camptomelic dysplasia. A case of survival for more than 4 years].
Arch Fr Pediatr. 1982 Oct;39(8):621-4.
8
The campomelic syndrome. Congenital bowing of limbs and other skeletal and extraskeletal anomalies.弯肢侏儒综合征。先天性肢体弯曲及其他骨骼和骨骼外异常。
Radiology. 1974 Jun;111(3):673-81. doi: 10.1148/111.3.673.
9
An autosomal recessive bone dysplasia syndrome resembling hypochondroplasia.一种类似于软骨发育不全的常染色体隐性骨发育不良综合征。
Pediatrics. 1985 Apr;75(4):786-9.
10
Campomelic dysplasia: evidence of autosomal dominant inheritance.弯肢发育异常：常染色体显性遗传的证据。
J Med Genet. 1993 Aug;30(8):683-6. doi: 10.1136/jmg.30.8.683.
引用本文的文献
1
A clinical and genetic study of campomelic dysplasia.弯肢侏儒症的临床与遗传学研究。
J Med Genet. 1995 Jun;32(6):415-20. doi: 10.1136/jmg.32.6.415.
Zotero 插件