口面指综合征：一名47,XXY染色体男孩的致死性疾病。 - Suppr

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超能文献

The oral-facial-digital syndrome: a male-lethal condition in a boy with 47/xxy chromosomes.

作者信息

Wahrman J, Berant M, Jacobs J, Aviad I, Ben-Hur N

出版信息

Pediatrics. 1966 May;37(5):812-21.

PMID:5295804

Abstract

摘要

相似文献

The oral-facial-digital syndrome: a male-lethal condition in a boy with 47/xxy chromosomes.口面指综合征：一名47,XXY染色体男孩的致死性疾病。

Pediatrics. 1966 May;37(5):812-21.

Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?两例同胞患唇腭裂、特殊面容、肠旋转不良和致命性先天性心脏病：一种新的常染色体隐性遗传病？

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A new translocation syndrome (3/B).一种新的易位综合征（3/B）。

N Engl J Med. 1966 Aug 11;275(6):290-8. doi: 10.1056/NEJM196608112750602.

[Development disorders of the face as classification problem].[面部发育障碍作为分类问题]

Dtsch Zahn Mund Kieferheilkd Zentralbl Gesamte. 1967 Feb;48(1):22-40.

Roentgenology of the median cleft face syndrome.正中面裂综合征的X线影像学表现

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Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies.

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[Associated malformations of the head and extremities].[头和四肢的相关畸形]

J Genet Hum. 1974 Dec;22(4):365-80.

[Facial fissures in unoperated patients].[未接受手术治疗患者的面部裂隙]

Hospital (Rio J). 1966 Sep;70(3):543-64.

Frontonasal dysplasia (median cleft face syndrome): comments on etiology and pathogenesis.

Birth Defects Orig Artic Ser. 1971 Jun;7(7):117-9.

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.

引用本文的文献

Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.男性1型口面指综合征：先天性心脏缺陷包含在其表型谱中。

Am J Med Genet A. 2017 May;173(5):1383-1389. doi: 10.1002/ajmg.a.38179. Epub 2017 Apr 3.

Update on oral-facial-digital syndromes (OFDS).口腔-面-指综合征（OFDS）的最新进展。

Cilia. 2016 May 2;5:12. doi: 10.1186/s13630-016-0034-4. eCollection 2016.

Prenatal monitoring and genetic counseling in a 47, XXX female with the oro-facial digital syndrome-type 1.一名患有1型口面指综合征的47,XXX女性的产前监测与遗传咨询

Am J Hum Genet. 1981 Jul;33(4):649-50.

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.

Oral-facial-digital syndrome.口面指综合征

Arch Dis Child. 1967 Apr;42(222):214-9. doi: 10.1136/adc.42.222.214.

[Studies on a family with orofaciodigital syndrome].

Humangenetik. 1966;2(2):165-77. doi: 10.1007/BF00291516.

[The differential diagnosis of Papillon-Lénge-Psaume-syndrome and Mohr's syndrome].[帕皮永-勒费弗尔综合征与莫尔综合征的鉴别诊断]

Humangenetik. 1970;9(1):54-63. doi: 10.1007/BF00696014.

Chromosome abnormalities in patients with syndactyly.并指患者的染色体异常。

Can Med Assoc J. 1969 Nov 15;101(10):75-8.

[Abnormalities in the field of otorhinolaryngology. Genetic report].[耳鼻咽喉科领域的异常。基因报告]

Arch Klin Exp Ohren Nasen Kehlkopfheilkd. 1972;202(1):1-50.

Medical genetics in Israel.以色列的医学遗传学。

J Med Genet. 1989 Mar;26(3):179-89. doi: 10.1136/jmg.26.3.179.

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