Another case of spondylocostal dysplasia and severe anomalies.
作者信息
Lin A E, Harster G A
出版信息
Am J Med Genet. 1993 Jun 1;46(4):476-7. doi: 10.1002/ajmg.1320460430.
PMID:8357029
Abstract
摘要
相似文献
1
Another case of spondylocostal dysplasia and severe anomalies.另一例脊椎肋骨发育不良及严重畸形病例。
Am J Med Genet. 1993 Jun 1;46(4):476-7. doi: 10.1002/ajmg.1320460430.
2
Spondylocostal dysplasia.脊椎肋骨发育不良
Indian Pediatr. 1992 Jul;29(7):922-4.
3
Jarcho-Levin syndrome: a case study.
Neonatal Netw. 2004 Sep-Oct;23(5):9-21. doi: 10.1891/0730-0832.23.5.9.
4
Another case of spondylocostal dysplasia and severe anomalies: a diagnostic and counseling dilemma.
Am J Med Genet. 1994 May 1;50(4):383-4. doi: 10.1002/ajmg.1320500419.
5
Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry.与其他先天性异常相关的严重脊柱肋骨发育不良：来自西班牙登记处的10例临床/流行病学分析及描述
Am J Med Genet. 1994 Jul 1;51(3):203-12. doi: 10.1002/ajmg.1320510306.
6
[A case of type II achondrogenesis].[一例II型软骨发育不全病例]
Pediatr Med Chir. 1996 Jan-Feb;18(1):105-7.
7
Schwartz-Jampel syndrome: three pediatric case reports.施瓦茨-扬佩尔综合征：三例儿科病例报告。
Genet Couns. 2003;14(3):353-8.
8
Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?肋骨完全无骨化、小颌畸形和耳部异常：脑-肋-下颌综合征的极端表现？
Eur J Hum Genet. 1998 Jan;6(1):71-4. doi: 10.1038/sj.ejhg.5200154.
9
[Lethal chondrodysplasia with short ribs, Majewski type. Diagnosis in utero].[致死性短肋软骨发育不良，马耶夫斯基型。宫内诊断]
Pediatrie. 1982 Sep;37(6):453-9.
10
[Spondylocostal dysostosis. Report of 5 cases including siblings and an atypical case].
Monatsschr Kinderheilkd. 1983 Jan;131(1):28-34.
引用本文的文献
1
Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.18号染色体q22.2至qter缺失与一种伴有多个椎体节段性缺陷的先天性异常综合征。
J Med Genet. 1997 May;34(5):414-7. doi: 10.1136/jmg.34.5.414.
Zotero 插件