نتایج جستجو برای: preaxial polydactyly
تعداد نتایج: 1274 فیلتر نتایج به سال:
The thymidine analogue, 5-bromo-2'-deoxyuridine (BUdR), given at the proper dose and time to pregnant rats produces preaxial hindlimb polydactyly in a high proportion of near term foetuses. The lack of physiological cell death in an area of preaxial mesenchyme known as the foyer primaire preaxial (fpp) is thought to be important in the pathogenesis of this defect. This study addresses the quest...
Gli3 is a major regulator of Hedgehog signaling during limb development. In the anterior mesenchyme, GLI3 is proteolytically processed into GLI3R, a truncated repressor form that inhibits Hedgehog signaling. Although numerous studies have identified mechanisms that regulate Gli3 function in vitro, it is not completely understood how Gli3 function is regulated in vivo. In this study, we show a n...
Polydactyly of the thumb, radial polydactyly, or preaxial polydactyly is common in all races, and about 20 percent of them occur bilaterally. Patients with polydactyly of the thumb show very diverse manifestations, from a rudimentary floating type to a complex one. The goal of surgical reconstruction is to make a straight, mobile, and stable thumb of good appearance in size and shape. The simpl...
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...
Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. We here describe the clinical and genetic features and prognosis observed in a newborn with trisomy 13 from Central Africa. He presented the rare feature of preaxial polydactyly of the feet.
During limb development, the spatio-temporal expression of sonic hedgehog (SHH) is driven by the Zone of polarizing activity Regulatory Sequence (ZRS), located 1 megabase upstream from SHH. Gain-of-function mutations of this enhancer, which cause ectopic expression of SHH, are known to be responsible for congenital limb malformations with variable expressivity, ranging from preaxial polydactyly...
A case of monozygotic male twins discordant for skeletal and cardiac defect is reported. One twin had the hemifacial microsomia type of the oculo-auriculo-vertebral dysplasia. The cotwin had no asymmetry of the face and normal ears, but preaxial polydactyly and ventricular and auricular septal defects. The cotwins were concordant for craniostenosis with a ridge metopic suture. Karyotypes were n...
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