[理查兹-朗德尔综合征]
[Richards-Rundle syndrome].
作者信息
Fehlow P, Walther F
机构信息
Fachkrankenhaus für Psychiatrie und Neurologie, Mühlhausen.
出版信息
Klin Padiatr. 1991 May-Jun;203(3):184-6. doi: 10.1055/s-2007-1025427.
PMID:1857055
Abstract
Among 43 female patients aged 17-46 years with almost severe oligophrenia there were four with primary hypogonadism, one of them a case of Richards Rundle syndrome, now aged 20 years with absence of secondary sex characters, hypoplastic genitals, deafness, ataxia, wasting of muscles and reduced jerks. In cases of hypogonadism and hypogenitalism should be searched for mental and neurologic disorders, also for genetic counseling of the siblings.
摘要
在43名年龄在17至46岁之间、几乎患有重度智力发育迟缓的女性患者中，有4人患有原发性性腺功能减退，其中1例为理查兹·朗德尔综合征，现年20岁，无第二性征、生殖器发育不全、耳聋、共济失调、肌肉萎缩和反射减弱。对于性腺功能减退和生殖器发育不全的病例，应查找精神和神经疾病，同时也应对其兄弟姐妹进行遗传咨询。
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