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Overlap between Majewski and hydrolethalus syndromes: a report of two cases.

作者信息

Sharma A K, Phadke S, Chandra K, Upreti M, Khan E M, Naveed M, Agarwal S S

机构信息

Department of Medical Genetics, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Lucknow, India.

出版信息

Am J Med Genet. 1992 Aug 1;43(6):949-53. doi: 10.1002/ajmg.1320430609.

DOI:10.1002/ajmg.1320430609
PMID:1415345
Abstract

We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski. It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-polydactyly syndromes.

摘要

相似文献

1
Overlap between Majewski and hydrolethalus syndromes: a report of two cases.
Am J Med Genet. 1992 Aug 1;43(6):949-53. doi: 10.1002/ajmg.1320430609.
2
Diagnostic dilemmas in the short rib-polydactyly syndrome group.短肋多指综合征组中的诊断难题
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[Short rib-polydactyly syndromes].[短肋多指综合征]
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A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.一种多重人类综合征表明肠细胞激酶在中枢神经、骨骼和内分泌系统发育中起关键作用。
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Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.水致死综合征基因座定位于11号染色体长臂23至25区的一个高度局限区域。
Am J Hum Genet. 1999 Oct;65(4):1086-95. doi: 10.1086/302603.
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Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.
致死性短肋多指综合征:其在连续谱系中重叠的进一步证据。
J Med Genet. 1993 Nov;30(11):937-41. doi: 10.1136/jmg.30.11.937.