Olsen H, Baggesen K, Sjolie A K
Department of Ophthalmology, Aarhus University Hospital, Denmark.
Ophthalmic Paediatr Genet. 1993 Jun;14(2):87-9. doi: 10.3109/13816819309042908.
Three siblings with Morquio syndrome (mucopolysaccharidosis IV A) are described. In addition to the characteristic dwarfism with skeletal deformities, odontoid anomalies, hearing loss and corneal clouding, the authors found almost identical lens opacities in all three patients. Lenticular opacities have not previously been described in patients with Morquio's syndrome IV A.
本文描述了三名患有莫尔基奥综合征(黏多糖贮积症IV型A)的兄弟姐妹。除了伴有骨骼畸形、齿状突异常、听力丧失和角膜混浊的典型侏儒症外,作者在所有三名患者中均发现了几乎相同的晶状体混浊。此前,IV型A莫尔基奥综合征患者中尚未有晶状体混浊的相关描述。