Gruber B, Burton B K
Department of Otolaryngology, Head and Neck Surgery, Michael Reese Hospital, University of Illinois at Chicago 60616.
Int J Pediatr Otorhinolaryngol. 1994 Mar;29(1):59-63. doi: 10.1016/0165-5876(94)90109-0.
A female infant with hypoglossia-hypodactyly syndrome is presented. Her mother underwent chorionic villus sampling (CVS) at 9 weeks gestation. This is the seventh reported case of oromandibular-limb hypogenesis syndrome associated with maternal CVS, the first from the United States. These seven CVS-related cases represent a significant increase over this syndrome's 'natural' incidence of 1 per 175,000 live births. An excess of limb reduction deformities has also been seen following CVS. These seven cases are reviewed, and the possible etiology of this rare condition is discussed.
本文报告了一名患有舌下腺及指（趾）发育不全综合征的女婴。其母亲在妊娠9周时接受了绒毛膜绒毛取样（CVS）。这是第七例与母体CVS相关的口下颌肢体发育不全综合征病例，也是美国首例。这七例与CVS相关的病例相较于该综合征每175,000例活产中1例的“自然”发病率有显著增加。在CVS后还观察到肢体减少畸形过多的情况。对这七例病例进行了回顾，并讨论了这种罕见病症的可能病因。
