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Thanatophoric dysplasia with cloverleaf skull.

作者信息

Isaacson G, Blakemore K J, Chervenak F A

出版信息

Am J Dis Child. 1983 Sep;137(9):896-8. doi: 10.1001/archpedi.1983.02140350070017.

DOI:10.1001/archpedi.1983.02140350070017
PMID:6351595
Abstract

Thanatophoric dysplasia with cloverleaf skull is a congenital anomaly characterized by a bizarre form of hydrocephalus and a uniformly fatal, shortlimbed chondrodysplasia. We report a case of associated cardiac anomalies, with a review of all previous known reports.

摘要

相似文献

1
Thanatophoric dysplasia with cloverleaf skull.
Am J Dis Child. 1983 Sep;137(9):896-8. doi: 10.1001/archpedi.1983.02140350070017.
2
Thanatophoric dysplasia with cloverleaf-skull. Case report and review of the literature.致死性骨发育不全合并三叶形颅骨。病例报告及文献复习。
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Prevalence of lethal osteochondrodysplasias in Denmark.
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Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.单卵双胞胎中存在三叶形颅骨差异的致死性发育不良:产前诊断、临床及病理发现
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Cloverleaf skull associated with Pfeiffer syndrome: pathology and management.与费弗综合征相关的三叶形颅骨:病理学与治疗
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Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II.应用未培养的羊水细胞快速检测 FGFR3 基因 K650E 突变在伴有胎儿三叶头、枕部脑膨出、脑室扩大、股骨短直和致死性骨发育不良Ⅱ型的妊娠中的作用
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引用本文的文献

1
Micromelic bone dysplasia with cloverleaf skull.伴有三叶形头盖骨的短肢性骨发育不良
Skeletal Radiol. 1989;17(8):551-5. doi: 10.1007/BF02569399.