Martínez-Frías María Luisa, Toral Joaquín Fernández, López-Grondona Fermina, Mendioroz Jacobo, Bermejo Eva
Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain.
Am J Med Genet A. 2005 Sep 1;137A(3):288-91. doi: 10.1002/ajmg.a.30875.
A second family with the condition first described by Frías et al. in 1975 is presented. Those authors examined a mother and her son affected with short stature, facial anomalies (epicanthic folds, downward palpebral fissures, hyperthelorism, and eyelid ptosis), cup-shaped and posteriorly rotated ears, hand and foot defects, and delayed bone age. In the family we are presenting here, a girl, her mother, the mother's brother, and the propositus' maternal grandmother, were affected. This supports autosomal dominant inheritance, as proposed by (Frías et al. [1975] BDOAS 11:30-33), although with variable expressivity.
本文报告了第二个患有1975年弗里亚斯等人首次描述病症的家族。那些作者检查了一位母亲及其患有身材矮小、面部异常（内眦赘皮、睑裂向下、眼距增宽和眼睑下垂）、杯状耳且耳朵向后旋转、手足缺陷以及骨龄延迟的儿子。在我们这里呈现的这个家族中，一名女孩、她的母亲、母亲的兄弟以及先证者的外祖母都受到了影响。这支持了弗里亚斯等人（[1975年]《出生缺陷原始系列》第11卷：30 - 33页）所提出的常染色体显性遗传，尽管表现度有所不同。
