Heterogeneity in the campomelic syndromes: long and short bone varieties.
作者信息
Khajavi A, Lachman R S, Rimoin D L, Schimke R N, Dorst J P, Ebbin A J, Handmaker S, Perreault G
出版信息
Birth Defects Orig Artic Ser. 1976;12(6):93-100.
PMID:974255
Abstract
There appears to be definite heterogeneity within the campomelic syndromes. We are broadly classifying these into the classic or long bone campomelic syndromes and 2 distinct short bone varieties designated as the normocephalic short-boned and craniosynostotic short-boned types, respectively (Table 1).
摘要
相似文献
1
Heterogeneity in the campomelic syndromes: long and short bone varieties.
Birth Defects Orig Artic Ser. 1976;12(6):93-100.
2
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.
3
Congenital bowing of the long bones. An example of a campomelic syndrome of the short-limbed normocephalic subtype.
Acta Paediatr Scand. 1983 Sep;72(5):789-91. doi: 10.1111/j.1651-2227.1983.tb09816.x.
4
[Campomelic dwarfism. Its placement in the heterogeneous group of congenital bowing of the limbs].
Pediatr Med Chir. 1985 Mar-Apr;7(2):259-70.
5
Dyssegmental dwarfism: a new syndrome of lethal dwarfism.
Birth Defects Orig Artic Ser. 1977;13(3D):79-90.
6
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。
Am J Dis Child. 1972 Oct;124(4):485-96. doi: 10.1001/archpedi.1972.02110160023002.
7
Syndromes of congenital bowing of the long bones.先天性长骨弯曲综合征
Pediatr Radiol. 1978 Apr 10;7(1):40-8. doi: 10.1007/BF00975337.
8
Long-limbed campomelic dwarfism. A radiologic and pathologic study.
Am J Dis Child. 1980 Nov;134(11):1035-42. doi: 10.1001/archpedi.1980.02130230015005.
9
Bone destruction in myelogenous marrow crisis.骨髓性骨髓危象中的骨质破坏。
J Can Assoc Radiol. 1980 Mar;31(1):69-70.
10
Campomelic dwarfism.弯肢侏儒症
Birth Defects Orig Artic Ser. 1975;11(6):113-8.
引用本文的文献
1
Absent pedicles in campomelic dysplasia.
Childs Nerv Syst. 2017 Jun;33(6):987-992. doi: 10.1007/s00381-017-3375-4. Epub 2017 Apr 26.
2
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.
3
Case report 230: camptomelic syndrome.病例报告230：弯肢侏儒综合征。
Skeletal Radiol. 1983;9(4):283-4. doi: 10.1007/BF00354133.
4
Morphologic studies in the skeletal dysplasias.骨骼发育异常的形态学研究。
Am J Pathol. 1979 Sep;96(3):813-70.
Zotero 插件