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Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.

作者信息

Tucker C C, Finley S C, Tucker E S, Finley W H

出版信息

J Med Genet. 1966 Jun;3(2):145-7. doi: 10.1136/jmg.3.2.145.

DOI:10.1136/jmg.3.2.145
PMID:5963210
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012919/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ca5/1012919/b71aafa21a37/jmedgene00327-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ca5/1012919/187ec2e1d361/jmedgene00327-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ca5/1012919/b71aafa21a37/jmedgene00327-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ca5/1012919/187ec2e1d361/jmedgene00327-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ca5/1012919/b71aafa21a37/jmedgene00327-0070-b.jpg

相似文献

1
Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.伴有多囊肾和肝的口面指综合征：病理和细胞遗传学研究
J Med Genet. 1966 Jun;3(2):145-7. doi: 10.1136/jmg.3.2.145.
2
Renal cystic disease associated with orofaciodigital syndrome.
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3
[Clinical and genetic contribution to the orofacialdigital syndrome].[口腔指（趾）综合征的临床及遗传学贡献]
Padiatr Grenzgeb. 1968;7(2):85-94.
4
Mental retardation and dermatoglyphics in a family with the oral-facial-digital syndrome.
Am J Dis Child. 1968 Dec;116(6):615-22. doi: 10.1001/archpedi.1968.02100020619008.
5
STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.一个患有口面指综合征的家族的研究。
N Engl J Med. 1964 Nov 19;271:1073-8. doi: 10.1056/NEJM196411192712101.
6
Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings.兄弟姐妹中的肝纤维化、多囊肾、缺损畸形和脑病。
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7
Polycystic disease of the liver and kidneys in childhood.儿童期肝肾多囊病
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8
An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts.一种伴有肝纤维化和肾囊肿的常染色体隐性智力发育迟缓综合征。
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Polycystic disease of kidney and liver presenting in childhood.儿童期出现的肝肾多囊病。
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Autosomal dominant polycystic kidney disease with liver and pancreatic involvement in early childhood.常染色体显性遗传性多囊肾病伴儿童早期肝脏和胰腺受累
Am J Kidney Dis. 1989 Apr;13(4):340-4. doi: 10.1016/s0272-6386(89)80043-5.

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Cystic renal disease presenting in pregnancy: a novel presentation of oral-facial-digital syndrome type 1.妊娠期出现的囊性肾病：1型口面指综合征的一种新表现形式。
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Joubert-Boltshauser syndrome with polydactyly in siblings.同胞手足患伴有多指畸形的朱伯特-博尔特绍伊泽综合征。

本文引用的文献

1
[Hereditary abnormality of the buccal mucosa: abnormal bands and frenula].[颊黏膜的遗传性异常：异常条纹和系带]
Revue Stomatol. 1954 Apr;55(4):209-27.
2
The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities.口面指综合征：一种伴有相关染色体异常的女性多发先天性疾病。
Pediatrics. 1962 Jun;29:985-95.
3
Partial-trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter.部分三体综合征。II. 一次插入作为母亲和女儿患口面指综合征的病因
J Neurol Neurosurg Psychiatry. 1982 Aug;45(8):737-9. doi: 10.1136/jnnp.45.8.737.
4
X-linked dominant inherited diseases with lethality in hemizygous males.半合子男性致死的X连锁显性遗传病。
Hum Genet. 1983;64(1):1-23. doi: 10.1007/BF00289472.
5
Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?长管状骨弯曲和轴前多指（趾）畸形是梅克尔综合征的体征吗？
Hum Genet. 1983;65(2):125-33. doi: 10.1007/BF00286648.
6
The Meckel Syndrome. Pathological and cytogenetic observations in eight cases.梅克尔综合征。8例病例的病理学和细胞遗传学观察。
Hum Genet. 1982;62(3):240-5. doi: 10.1007/BF00333528.
7
Polycystic disease of kidney and liver presenting in childhood.儿童期出现的肝肾多囊病。
J Med Genet. 1971 Sep;8(3):257-84. doi: 10.1136/jmg.8.3.257.
8
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.I型口面指综合征伴多囊肾和胼胝体发育不全。
J Med Genet. 1987 Feb;24(2):116-8. doi: 10.1136/jmg.24.2.116.
9
Cerebral abnormalities in the oral-facial-digital syndrome.
Pediatr Radiol. 1975 Jun 13;3(3):130-6. doi: 10.1007/BF01006897.
10
Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs.两名巴基斯坦同胞中的梅克尔综合征（内脏囊肿性脑发育不全）
J Med Genet. 1978 Jun;15(3):242-5. doi: 10.1136/jmg.15.3.242.
Chromosoma. 1961;12:573-84. doi: 10.1007/BF00328943.
4
Chromosomal analysis in a case of orofacial-digital syndrome.一例口面指综合征的染色体分析
N Engl J Med. 1962 Apr 12;266:774-5. doi: 10.1056/NEJM196204122661509.
5
STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.一个患有口面指综合征的家族的研究。
N Engl J Med. 1964 Nov 19;271:1073-8. doi: 10.1056/NEJM196411192712101.
6
An apparently identical extra autosome in two severely retarded sisters with multiple malformations.
Cytogenetics. 1962;1:32-41. doi: 10.1159/000129711.
7
Disturbances of the metanephronic renal anlage. A case report.后肾肾原基发育异常。病例报告。
Arch Pathol. 1961 Sep;72:343-50.
8
Hypertrophied frenuli, oligophrenia, familial trembling and anomalies of the hand. Report of four cases in one family and a forme fruste in another.系带肥厚、智力发育不全、家族性震颤及手部异常。一个家族中的4例报告及另一家族中的顿挫型病例。
N Engl J Med. 1961 Mar 9;264:486-9. doi: 10.1056/NEJM196103092641004.