Hanssen A M, Werquin H, Suys E, Fryns J P
Department of Clinical Genetics, Academic Hospital Maastricht, Belgium.
Clin Genet. 1993 Dec;44(6):281-6. doi: 10.1111/j.1399-0004.1993.tb03901.x.
We report Cowden syndrome in a large four-generation family, paying special attention to the apparently greater severity and earlier onset of signs and symptoms in subsequent generations. Macrocephaly was present in all affected individuals and was markedly progressive in three of six affected children of the fourth generation, and associated with slight to moderate delay in psychomotor development.
我们报告了一个四代大家庭中的考登综合征，特别关注了后代中症状和体征明显更严重且发病更早的情况。所有受影响个体均有巨头畸形，在第四代的6名受影响儿童中有3名巨头畸形明显进展，并伴有轻度至中度的精神运动发育迟缓。
