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Two infants with the Hanhart syndrome, i.e. micrognathia, microglossia, terminal deficiency of all limbs and imperforate anus in one, were dissected and studied in detail. The interrelationships of the muscular and skeletal defects suggested that they were the result of incomplete rather than abnormal morphogenesis. We speculate that the oral and limb(More)
OBJECTIVES This study investigates the effect of scanning parameters on the accuracy of measurements from three-dimensional (3D), multi-detector computed tomography (MDCT) mandible renderings. A broader range of acceptable parameters can increase the availability of computed tomographic (CT) studies for retrospective analysis. STUDY DESIGN Three human(More)
  • E T Bersu
  • 1980
Detailed anatomical dissections of five Down syndrome (DS) bodies revealed a unique and consistent "internal phenotype" composed of: 1) variations in muscles, 2) peripheral artery variations, and 3) the presence of dilatations and nerve rootlets associated with the spinal accessory and first cervical nerves. Most of these variations may occur occasionally(More)
We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Möbius syndrome, but also those described, among others, under names such as aglossia-adactylia syndrome, glosso-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the(More)
Development of the trisomy 19 mouse thymus was studied by (1) evaluation of cell and nuclear counts and volume distributions and (2) examination of the in vivo cell cycle characteristics using flow cytometry. Direct preparations of thymuses from affected animals and their normal littermates at 17, 18, 19 gestational days, and at term were used. Cell numbers(More)
The hyoid bone anchors and supports the vocal tract. Its complex shape is best studied in three dimensions, but it is difficult to capture on computed tomography (CT) images and three-dimensional volume renderings. The goal of this study was to determine the optimal CT scanning and rendering parameters to accurately measure the growth and developmental(More)
We report the anatomical variations of the limbs in eight infants with the trisomy-18 syndrome that were dissected and studied in detail. In each case, the upper limbs showed defects which further define the specific influence of this aneuploidy on the development of its preaxial (radial) component, and the tendency towards reduction defects. Abnormalities(More)
This study represents a first effort to characterize the growth and development of murine trisomy 16 neurons using single-cell neuron culture techniques. Murine trisomy 16 is a model for the human Down syndrome, or trisomy 21. Both show similar nervous system abnormalities including decreases in cerebellar size and in numbers of cerebellar neurons. Trisomy(More)
Neuronal cells from murine trisomy 16 fetuses have increased levels of class I MHC H-2Kk. To determine whether this increased level of H-2Kk protein product resulted from an increased synthesis of mRNA, a 33 base antisense cDNA probe complementary to a region in exon 2 of the H-2Kk sequence (nucleotide 392-424) was synthesized. This probe was used to(More)