Wettstein A, Buchinger G, Braun A, von Bazan U B
Hum Genet. 1980;55(2):177-89. doi: 10.1007/BF00291765.
A family with 7 persons affected with whistling-face-syndrome in 3 successive generations is described. The clinical variability of the syndrome within one family is demonstrated by means of examining particular characteristics of four daughters in the family. Six affected persons are female; the only male carrier died in early infancy because of the severity of symptoms. The known autosomal dominant inheritance combined with clinical variability and bias towards female manifestation is present in this family.
本文描述了一个三代中有7人患吹口哨面容综合征的家族。通过检查该家族中四个女儿的特定特征，展示了综合征在一个家族内的临床变异性。6名患者为女性；唯一的男性携带者因症状严重在婴儿早期死亡。该家族存在已知的常染色体显性遗传，同时伴有临床变异性和女性表现倾向。
