Rubinstein A E, Lovelace R E, Behrens M M, Weisberg L A
Arch Neurol. 1975 Jul;32(7):480-2. doi: 10.1001/archneur.1975.00490490084010.
A girl born with congenital paresis of cranial nerves III, IV, and VII (Moeblus syndrome) subsequently developed a progressive peripheral neuropathy. There was suggestive evidence of a familial neuropathy with autosomal dominant inheritance in three family members. The patient also had hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome).
一名患有先天性动眼神经、滑车神经及面神经麻痹(Mobius综合征)的女孩随后出现了进行性周围神经病变。有证据提示在三名家庭成员中存在常染色体显性遗传的家族性神经病变。该患者还患有低促性腺激素性性腺功能减退和嗅觉缺失(卡尔曼综合征)。