SyndromeAbnormalities, MultipleDiagnosis, DifferentialInfant, NewbornBipolar affective disorder and schizophrenia share many clinical and genetic characteristics, and are thought by some to be different expressions of the same underlying disorder. A recent study showed an excess of homozygosity at a Ball ...
第六节 耳-腭-指(趾)综合征(otopalatodigital syndrome) 麻醉管理所面临的主要问题 建立静脉通路及区域神经阻滞困难 困难气道 颈椎不稳定 【病名】 耳-腭-指(趾)综合征(oto-palato-digital syndrome,OPD syndrome),又称面-腭-指综合征(cranio-oro-digital syndrome)、faciopalatoosseous syndrome(FPO)、Taybi综合...
Otopalatodigital syndrome, also known as OPD syndrome, cranioorodigital syndrome, faciopalatoosseus syndrome, or Tarybi syndrome, is a congenital condition mainly characterized by bone and cartilage abnormalities. This spectrum disorder is caused by gene mutations on the X chromosome; it has type I...
泛耳-齶-指(趾)症候群(Otopalatodigital Spectrum Disorders),乃是以骨骼发育不良表徵的一群疾病统称,包括:耳-齶-指(趾)症候群第一型(Otopalatodigital syndrome type I; OPD1)、耳-齶-指(趾)症候群第二型(Otopalatodigital syndrom...
J Hum Genet (2007) 52:370–373 DOI 10.1007/s10038-007-0108-7 SHORT COMMUNICATION A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype–genotype correlation T. Kondoh Æ N. Okamoto Æ N. Norimatsu Æ M. Uetani Æ G. Nishimura Æ H. Moriuchi ...
网络释义 1. 耳腭指综合征 七、耳腭指综合征(otopalatodigital syndrome)八、多发性翼皮综合征(multiple pterygium syndrome)九、Meckel综合征十、腭心 … www.toopoo.com|基于2个网页
Otopalatodigital Syndrome, Type I 释义 SeeOPD1 随便看 Public Employees Retirement Fund Public Employees Retirement Inc. Public Employees Retirement Information System Public Employees' Retirement Law Public Employees Retirement System Public Employees' Retirement System Public Employees Retirement System of Miss...
Otopalatodigital syndrome type 1 (OPD1) is an X-linked semidominant condition characterized by malformations of the skeleton, auditory apparatus, and palate. Previous studies have established linkage to a 16-cM region of Xq27-q28. A proposed allelic variant of OPD1, termed “OPD2,” is ...
Dudding BA, Gorlin RJ, Langer LO. 1967. The otopalatodigital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am J Dis Child 113:214 - 221.Dudding BA, Gorlin RJ, Langer LO. The oto-palato-digital ...
Oto-palato-digital Syndrome ? a Case ReportMode of InheritanceFacial DysmorphismOsteochondrodysplasiaOssificationOmphalocoeleDobromila BaranskaTadeusz BieganskiIwona MaroszynskaMalgorzata PiotrowiczAnna PtaszynskaPolish Journal of Radiology