Young I D, Hughes H E
J Ment Defic Res. 1982 Sep;26(Pt 3):153-62. doi: 10.1111/j.1365-2788.1982.tb00142.x.
A large family is reported in which at least four males are, or have been, affected with an unusual form of mental retardation associated with short stature, obesity, hypogonadism and skin disease. Investigations in the proband indicate that the hypogonadism is primary rather than secondary, and that the skin involvement is ichthyosiform. The mode of inheritance is entirely consistent with sex-linkage.
据报道，有一个大家庭中至少有四名男性受到一种不寻常的智力发育迟缓的影响，这种疾病伴有身材矮小、肥胖、性腺功能减退和皮肤病。对先证者的调查表明，性腺功能减退是原发性的而非继发性的，皮肤受累表现为鱼鳞病样。遗传方式完全符合性连锁。
