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Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia.

作者信息

Sherer D M, Shah Y G, Klionsky N, Woods J R

机构信息

Department of Obstetrics and Gynecology, Strong Memorial Hospital, Rochester, New York 14642.

出版信息

Am J Perinatol. 1991 Jul;8(4):259-62. doi: 10.1055/s-2007-999392.

DOI:10.1055/s-2007-999392
PMID:1741870
Abstract

The Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) is a rare, usually lethal condition involving short limbs and occasional hydrocephalus. Presented is a case in which prenatal sonographic findings were highly suggestive of this syndrome, although not definite. In this fetus, findings of hydrocephalus, short limbs, and probable pulmonary hypoplasia changed the intrapartum management. The findings, correlated with the postmortem radiography, led to diagnosis of probable Roberts-SC syndrome.

摘要

相似文献

1
Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia.
Am J Perinatol. 1991 Jul;8(4):259-62. doi: 10.1055/s-2007-999392.
2
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.罗伯茨-短肢畸形综合征的产前检测:两例具有特征性表现的同胞病例报告
Am J Med Genet. 1989 Mar;32(3):390-4. doi: 10.1002/ajmg.1320320325.
3
[Roberts-SC phocomelia syndrome].[罗伯茨-短肢畸形综合征]
Gynakol Geburtshilfliche Rundsch. 2001;41(1):3-7. doi: 10.1159/000049454.
4
Prenatal diagnosis of pseudothalidomide syndrome in consecutive pregnancies of a consanguineous couple.近亲结婚夫妇连续妊娠中假性沙利度胺综合征的产前诊断
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5
Roberts-SC phocomelia syndrome with exencephaly.
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Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome.患有脾性腺融合肢体缺陷综合征胎儿的产前超声检查结果
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Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association.
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8
Prenatal diagnosis of Roberts syndrome.罗伯茨综合征的产前诊断。
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9
[Roberts-SC phocomelia syndrome: cytogenetic findings and clinical variability in three brothers].
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