Eye Signs of Hypophosphatasia
Eye Signs of Hypophosphatasia
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低磷酸酯酶症的眼部症状
DOI：
10.1001/archopht.1969.00990010616003
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发表时间：
1969
影响因子：
--
通讯作者：
Lockhart Ws
中科院分区：
文献类型：
--
作者：
Brenner Rl;Smith Jl;C. Ww;Bejar Rl;Lockhart Ws
我们报告一例婴儿的低磷酸酶症，表现为蓝色巩膜、杂色眼眶、病理性眼睑回缩、视乳头水肿和颅骨狭窄。鼓励眼科医生检查家庭的其他成员，获得长骨的X光片，并检查血清碱性磷酸酶和尿磷酸乙醇胺水平，以确认诊断。早期识别此实体的眼部体征可能会预防颅狭窄的眼部和神经系统并发症。
A case of hypophosphatasia in an infant showing blue sclerae, harlequin orbits, pathologic lid retraction, papilledema, and craniostenosis was presented. The ophthalmologist is encouraged to examine other members of the family, to obtain x-ray films of long bones, and to check serum alkaline phosphatase and urinary phosphoethanolamine levels in order to confirm the diagnosis. Early recognition of the eye signs of this entity may prevent the ocular and neurologic complications of craniostenosis.