Fábián K
Borsod-Abaúj-Zemplén megyei Kórház-Rendelointézet, Miskolc.
Orv Hetil. 1995 Mar 26;136(13):663-5.
The author reports on two affected siblings with a very rare not yet published congenital syndrome in Hungary. Only thirty-eight patients have been reported in the literature. The syndrome is probably a genetic disorder of connective tissue with autosomal recessive transmission. The author draws attention that the knowledge of the two main components (generalised osteoporosis and blindness) of the syndrome can help in its correct diagnosis.
作者报道了匈牙利两例患有一种极为罕见且尚未发表的先天性综合征的患病兄弟姐妹。文献中仅报道过38例患者。该综合征可能是一种常染色体隐性遗传的结缔组织遗传病。作者提请注意，了解该综合征的两个主要症状（全身性骨质疏松和失明）有助于做出正确诊断。
