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多指畸形、唇裂、舌错构瘤、肾发育不全、听力丧失和精神运动发育迟缓综合征:莫尔综合征的变异型还是一种新综合征?

Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?

作者信息

Mattei J F, Aymé S

出版信息

J Med Genet. 1983 Dec;20(6):433-5. doi: 10.1136/jmg.20.6.433.

DOI:10.1136/jmg.20.6.433
PMID:6686259
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049175/
Abstract

Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis. This probably autosomal recessive syndrome could be a further example of the condition described by Váradi et al or a variant of the Mohr syndrome.

摘要

三名同胞,即先证者和一对同卵双胞胎,患有包括智力发育迟缓、出生后身体发育迟缓、足部轴前多指畸形、第三掌骨裂、正中唇裂、舌背脂肪错构瘤、传导性听力损失以及单侧或双侧肾缺如在内的病症。这种可能为常染色体隐性遗传的综合征可能是瓦拉迪等人所描述病症的又一实例,或者是莫尔综合征的一种变体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cab/1049175/a73ee498f4b8/jmedgene00110-0036-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cab/1049175/900397e2a680/jmedgene00110-0035-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cab/1049175/f4364a253633/jmedgene00110-0036-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cab/1049175/a73ee498f4b8/jmedgene00110-0036-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cab/1049175/900397e2a680/jmedgene00110-0035-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cab/1049175/f4364a253633/jmedgene00110-0036-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cab/1049175/a73ee498f4b8/jmedgene00110-0036-b.jpg

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1
Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?多指畸形、唇裂、舌错构瘤、肾发育不全、听力丧失和精神运动发育迟缓综合征:莫尔综合征的变异型还是一种新综合征?
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Isolated congenital bifid tongue.孤立性先天性双裂舌。
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Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.口腔面指综合征 VI 型的界定和诊断标准。

本文引用的文献

1
Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.近亲结婚的吉普赛人中的多指(趾)畸形、唇/腭裂或舌部肿块综合征以及精神运动发育迟缓。
J Med Genet. 1980 Apr;17(2):119-22. doi: 10.1136/jmg.17.2.119.
2
A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?一名具有莫尔综合征和马耶夫斯基综合征特征的女婴:可变表达、基因复合还是一种独特的病症?
J Med Genet. 1983 Feb;20(1):65-7. doi: 10.1136/jmg.20.1.65.
Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4.
4
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.两名长期存活患者中帕利斯特-霍尔综合征的严格界定:手部放射学异常的重要性
J Med Genet. 1995 Aug;32(8):605-11. doi: 10.1136/jmg.32.8.605.