Petit P, Moerman P, Legius E, Fryns J P
Centre for Human Gentics, University of Leuven, Belgium.
Genet Couns. 1994;5(4):381-5.
We present a female fetus with combination of Pierre Robin anomaly and nuchal oedema, bilateral radial defects, multiple hand malformations including bilateral hyperphalangy, brachymesophalangy, costovertebral abnormalities, and complex cardiac malformation. The present findings constitute a true MCA syndrome with uncertain pattern of inheritance.
我们报告了一名患有皮埃尔·罗宾异常和颈部水肿、双侧桡骨缺损、包括双侧多指、短中节指骨在内的多种手部畸形、肋椎异常以及复杂心脏畸形的女性胎儿。目前的发现构成了一种遗传模式不确定的真正的MCA综合征。