نتایج جستجو برای: triphalangeal
تعداد نتایج: 98 فیلتر نتایج به سال:
A novel three-dimensional metal-organic framework (MOF), Ag4(tpt)4{δ-[Mo8O26]}·1.5H2O (A) (tpt = 2,4,6-tris(4-pyridyl)-1,3,5-triazine), possesses a ths-type topology with the hinge deformation mode. The single-crystal X-ray diffraction study shows that A and the dehydrated phase Ag4(tpt)4{δ-[Mo8O26]} (B) display distinct anisotropic thermal expansion with expansion in the b direction but contra...
CONTEXT Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9 presenting unusual findings and prolonged survival. CASE REPORTS The first patient was a boy aged six years and five months presenting weight of 14.5 kg (< P3), height of 112 cm (P10), head circumference of 49 cm (P2), prominent f...
Index finger polydactyly in a Turkish family is reported. The transmission of the malformation fits the pattern of regular autosomal dominant inheritance. Some of the affected individuals had one or two phalanges on their first digits, but all had triphalangeal second fingers. Subjects with polydactyly had very interesting dermatoglyphs, such as an extra a triradius under the super-numerary ind...
Commonly affected anomalies are anorectal malformations (imperforate anus, anteriorly placed anus, anal stenosis), hand malformations (preaxial polydactyly, triphalangeal thumb, bifid thumb), external ear malformations (microtia, “satyr” or “lop” ear, preauricular tag or pits) with sensorineural hearing loss, and renal malformations. In addition, intellectual disability, learning problems, and ...
A kindred of 15 affected individuals in five generations is described with autosomal dominant inheritance of bilateral five-fingered hand. Some of them had additional pre-axial polydactyly of the fingers or toes and some had partial or complete absence of the tibia. The range of expression of the gene is variable and genetic advice to these families must take account of the whole spectrum of de...
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