نتایج جستجو برای: polydactyly
تعداد نتایج: 1218 فیلتر نتایج به سال:
Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation breakpoint in a PPD patient and a transgenic insertion site in the polydactylous mouse mutant sasquatch (Ssq). The genetic lesions in both lie within the same respective...
Isolated postaxial polydactyly is an autosomal dominant hereditary trait that can be a feature of more than 80 Mendelian or chromosomal disorders [Gorlin et al., 2001]. Polydactyly, in associationwithmental retardation, occurs in a number of syndromes, while the combination of these two features in the absence of other symptoms is rare [Castilla et al., 1998]. Here, we report on two sibs manife...
The operation method for thumb polydactyly has developed from simple removal, and it has become the standard procedure at present to collect parts to be used from each of the components and reconstruct one thumb. Traditionally this has been accomplished by the bisecting and joining procedure, known as Bilhaut-Cloquet's method, for the distal phalangeal type, and by the extended bisecting and jo...
small supernumerary marker chromosomes (ssmc) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. on the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...
Prenatal identification of hand and foot anomalies is important in view of their association with chromosomal abnormalities and genetic syndromes. In this report we describe the prenatal ultrasonographic diagnosis of a hallux duplication in a second-trimester detailed scan. To our knowledge, this report documents the first case of this rare form of preaxial polydactyly of the foot to be detecte...
Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharophimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial polydactyly is reported here.
Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.
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