Christian J C, Bixler D, Dexter R N, Donohue J P
Birth Defects Orig Artic Ser. 1971 May;7(6):166-71.
Five cases are presented and the literature reviewed concerning the association of anosmia or hyposmia and hypogonadotropic hypogonadism (Kallmann syndrome). Two of the five cases are sporadic and without associated anomalies, the third is associated with ichthyosis and epilepsy, the fourth has a sister with hypogonadism and cleft lip and palate while the fifth case also has Albright's hereditary osteodystrophy (pseudopseudohypoparathyroidism). It is concluded that "Kallmann syndrome" is present in a wide spectrum of disorders with different genetic etiologies.
本文报告了5例嗅觉缺失或嗅觉减退与低促性腺激素性性腺功能减退（卡尔曼综合征）相关的病例，并对相关文献进行了综述。5例中的2例为散发性，无相关异常；第3例与鱼鳞病和癫痫相关；第4例的姐姐患有性腺功能减退和唇腭裂；而第5例还患有奥尔布赖特遗传性骨营养不良（假性假甲状旁腺功能减退症）。得出的结论是，“卡尔曼综合征”存在于具有不同遗传病因的广泛疾病谱中。
