Rasmussen S A, Frias J L
Department of Pediatrics, University of Florida, Gainesville.
Clin Genet. 1988 Jan;33(1):5-10. doi: 10.1111/j.1399-0004.1988.tb04258.x.
The acrocephalosyndactylies are a group of conditions with a wide variability of expression. We report a patient with features of the Pfeiffer syndrome (acrocephalosyndactyly type V), initially believed to be a new mutation in her family. Further examination of her mother demonstrated abnormalities of her right thumb which we believe may represent mild expression of the Pfeiffer syndrome. This observation illustrates the variability of phenotypic expression in the Pfeiffer syndrome and underscores the importance of careful investigation of parents and other family members when evaluating individuals with this condition.
尖头并指畸形是一组临床表现具有广泛变异性的病症。我们报告了一名患有法伊弗综合征（V型尖头并指畸形）特征的患者，最初认为这是其家族中的一种新突变。对其母亲的进一步检查发现她右手拇指存在异常，我们认为这可能代表法伊弗综合征的轻度表现。这一观察结果说明了法伊弗综合征表型表达的变异性，并强调了在评估患有这种病症的个体时仔细调查其父母和其他家庭成员的重要性。
