Klein V R, Friedman J M, Brookshire G S, Brown O E, Edman C D
Clin Genet. 1987 Apr;31(4):224-7. doi: 10.1111/j.1399-0004.1987.tb02800.x.
Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. A previously unreported association of Kallmann syndrome and choanal atresia in a family is reported. The mechanism of the embryopathic association of hypogonadotropic hypogonadism, anosmia, and choanal atresia is though to be due to a single developmental field defect in the region of the median forebrain and associated structures. An irregular autosomal dominant mode of inheritance is suspected.
卡尔曼综合征的定义是低促性腺激素性性腺功能减退与嗅觉缺失并存。本文报道了一个家族中卡尔曼综合征与后鼻孔闭锁的一种此前未被报道的关联。低促性腺激素性性腺功能减退、嗅觉缺失和后鼻孔闭锁这种胚胎病变关联的机制被认为是由于中脑前部区域及相关结构存在单一的发育场缺陷。怀疑存在不规则常染色体显性遗传模式。