PubMed · 1355223
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A M Kuliev, B Modell, L Jackson. 1992-09-12. Limb abnormalities and chorionic villus sampling.. https://doi.org/10.1016/0140-6736(92)92197-n
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We report on a fetus with holoprosencephaly, postaxial polydactyly, multiple visceral anomalies, upper limb shortness, and radial hypoplasia with normal chromosomes. We provide a brief review of the newly delineated "pseudo-trisomy 13 syndrome." Severe limb shortness of radial hypoplasia has not been described previously in this syndrome. The present case may expand the spectrum of the pseudo-trisomy 13 syndrome, or may represent a distinct entity.
We have investigated a patient with the Robin sequence and a unilateral deficiency of the left forearm. She was found to have a terminal deletion of the long arm of chromosome 4, del(4)(q33). The clinical manifestations of this patient differ from those of 7 previously described patients with a deletion of the same segment.
Illusory motion and displacement of the restrained forearm can be elicited by vibrating the biceps brachii or triceps brachii muscle. We measured the influence of gravitoinertial force level on these perceptual responses to vibration during parabolic flight maneuvers where normal (1G) and high force (1.8G) background levels alternated with microgravity (0G). Subjects indicated the apparent forearm position of the vibrated arm with the other forearm and also made verbal reports. Biceps brachii vibration induced illusory extension of the forearm and triceps brachii, illusory flexion; these apparent motions and displacements were highly G force-dependent being enhanced at 1.8G and diminished at 0G relative to normal 1G force level. These alterations are discussed in terms of vestibulo-spinal and propriospinal influences on alpha-gamma motoneuronal control of muscle tone and the varying requirements for postural load support in different force backgrounds. Their implications for the control and appreciation of limb movements during exposure to different G force levels are also described.