Bixler D, Christian J C
Birth Defects Orig Artic Ser. 1971 Jun;7(7):67-71.
Four children affected with Pierre Robin syndrome occurring in two related sibships are described. The fathers of these sibships are second cousins and both of them have deceased sibs with histories of respiratory or feeding difficulties or both, or cleft palate. Mode of inheritance suggested by these findings is autosomal dominant with variable expression and incomplete penetrance.
本文描述了在两个有亲缘关系的家族中出现的4例患有皮埃尔·罗宾综合征的儿童。这些家族中的父亲是二代堂兄弟，他们都有兄弟姐妹死于呼吸或喂养困难，或两者皆有，或患有腭裂。这些发现提示的遗传方式为常染色体显性遗传，具有可变表达和不完全外显率。
