Vaitiekaitis A S, Hornstein L, Neale H W
J Oral Surg. 1979 Sep;37(9):669-72.
A child with cranio-carpo-tarsal dysplasia or whistling face syndrome is described together with a new surgical procedure for the correction of the mouth deformity. The syndrome is rare; only approximately 40 cases have been described in the literature since 1938. Correction of the facial appearance is of great importance to the affected individuals because of emotional problems they may develop as a reaction of their anomalies. Although the majority of cases have been sporadic, the syndrome can be transmitted as an autosomal dominant trait. Therefore, genetic counseling for affected persons should be offered.
本文描述了一名患有颅腕跗骨发育不良或吹口哨脸综合征的儿童,并介绍了一种矫正口腔畸形的新手术方法。该综合征较为罕见;自1938年以来,文献中仅报道了约40例。由于面部畸形可能导致的情感问题,对面部外观进行矫正对患者非常重要。尽管大多数病例为散发性,但该综合征可作为常染色体显性性状遗传。因此,应为患者提供遗传咨询。