一种与腭裂相关的新综合征，伴有眼球缺损、尿道下裂、耳聋、身材矮小和桡骨融合。

Abruzzo M A, Erickson R P

J Med Genet. 1977 Feb;14(1):76-80. doi: 10.1136/jmg.14.1.76.

A new syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis has been described. The family history suggests either an autosomal dominant mode of inheritance with limited expression in females or X-linkage. Other syndromes with similar phenotypes and modes of inheritance are discussed. The need for accurate and complete family histories in cases involving cleft palate and cleft lip/palate is discussed in relation to genetic counselling and recurrent risk estimates.

一种以腭裂、缺损、尿道下裂、耳聋、身材矮小和桡骨融合为特征的新综合征已被描述。家族史提示为常染色体显性遗传模式，女性表现有限，或为X连锁遗传。文中讨论了具有相似表型和遗传模式的其他综合征。结合遗传咨询和复发风险评估，讨论了在涉及腭裂和唇腭裂病例中获取准确完整家族史的必要性。