Gutmann D H, Zackai E H, McDonald-McGinn D M, Fischbeck K H, Kamholz J
Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia.
Am J Med Genet. 1991 Oct 1;41(1):18-20. doi: 10.1002/ajmg.1320410106.
Oculodentodigital dysplasia (ODDD) syndrome is an uncommon inherited disorder with eye and facial abnormalities, syndactyly, and defects in tooth enamel. Some of the previously reported patients with ODDD syndrome also manifested spastic quadriparesis. We describe a patient with sporadic ODDD syndrome referred for evaluation of progressive spastic paraparesis. Magnetic resonance imaging of the brain demonstrated abnormal white matter, which suggests an explanation for the observed spastic paraparesis.
眼牙指发育不全（ODDD）综合征是一种罕见的遗传性疾病，伴有眼部和面部异常、并指（趾）畸形以及牙釉质缺陷。先前报道的一些ODDD综合征患者还表现出痉挛性四肢瘫。我们描述了一名因进行性痉挛性截瘫前来评估的散发型ODDD综合征患者。脑部磁共振成像显示白质异常，这为观察到的痉挛性截瘫提供了一种解释。
