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  • Title: CVS-exposed limb deficiency defects with or without other birth defects: presentation of six cases born during a period of nine years.
    Author: Chen CP, Liu FF, Jan SW, Lin SP, Lan CC.
    Journal: Am J Med Genet; 1996 Jun 14; 63(3):447-53. PubMed ID: 8737650.
    Abstract:
    We report on six cases with CVS-exposed limb-"reduction" defects born in our hospital during a period of 9 years (1986-1994). Four cases were associated with other birth defects. One had an oromandibular-limb hypogenesis syndrome with a cleft lip and jejunal atresia, a second had an oromandibular-limb hypogenesis (Hanhart) syndrome, a third had severe flexion deformity at the hips and hyperextension at the knees with meconium peritonitis and intestinal obstruction, and a fourth had Poland anomaly. Detailed clinical descriptions, prenatal diagnosis, photographs, and radiographs are presented. Our presentation adds to the information on severe limb abnormalities after CVS and suggests CVS-exposed limb defects may be associated with other birth defects resulting from vascular insufficiency or intrauterine compression. We suggest that detailed post-CVS sonographic followups are necessary for each CVS-exposed case to identify not only the possible fetal limb reduction, but also vascular disruption-type malformations and compressive deformities.
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