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Transverse limb deficiency, oro-mandibular limb hypogenesis sequences, and chorionic villus biopsy: Human and animal experimental evidence for a uterine vascular pathogenesis

✍ Scribed by Lipson, Anthony H. ;Webster, William S.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
284 KB
Volume
47
Category
Article
ISSN
0148-7299

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✦ Synopsis


Report of NICHD Workshop, 19931 of transverse limb deficiencies sometimes associated with the Hanhart or Mobius syndromes, have suggested a possible role of chorionic villus biopsy (CVS), particularly if performed between 56 and 66 days of gestation. Variability in the incidence of these abnormalities has led to doubts about the association [Schloo et al., 1992;Mahoney, 1991; Jackson et al., 19911. In addition, some data suggests that CVS at the standard time (9-12 menstrual weeks) may be associated with an increase in mild nail or phalangeal hypoplasia [Golbus, 19921. Clinical geneticists have recognized similar manifestations in a variety of conditions, including limb deficiency, abnormalities of oral and facial structures, and cranial nerve palsies and some other muscle and skele- tal defects. This group of "facial-limb hypogenesis" syndromes includes the Mobius, Hanhart, Charlie M, hypoglossia-hypodactylia, and ankyloglossia superior