Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management
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DOI：
10.1017/s0022215100133560
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发表时间：
1996-04-01
影响因子：
1.7
通讯作者：
Bailey, CM
中科院分区：
文献类型：
--
作者：
Richards, A;Brain, C;Bailey, CM
颅骨骺和颅骨骺发育不良是一种罕见的遗传性疾病，由于长骨和颅骨的造型错误而导致死亡。这些综合征从幼年开始就表现为多种耳鼻喉科疾病。现在可以通过一系列骨骼检查在放射学上做出诊断，这对预后很重要。我们回顾了两例颅突发育不良和两例颅后突发育不良的临床、影像学、CT、耳病理、听力学和组织病理学表现，并报告了我们迄今为止的内科和外科治疗经验。颞骨CT扫描显示中耳腔、内听道和膝状神经节面神经管变窄。后鼻孔狭窄手术、颅面重建和泪囊鼻腔吻合术的受益时间较短。在我们的病例中，骨化三醇治疗与低钙饮食并没有改变临床进展过程。在这些表型相似的综合征中引起净骨形成的潜在缺陷，基于对骨化三醇的不同生化反应和骨活检结果，似乎是不同的。在这两个颅骺发育不良病例的骨活检中发现成骨细胞数量增加。在这些情况下，早期识别是至关重要的，因为如果在婴儿期开始，针对潜在骨缺损的治疗具有最好的成功机会（科尔等人，1988; Fanconi等人，1988年）。
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bane due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age. The diagnostic distinction can now be made radiologically by serial skeletal survey which is important for prognosis. We review the clinical, radiological, computed tomography (CT) scan, otological, audiological and histopathological findings in two cases with craniodiaphyseal, and two cases with craniometaphyseal dysplasia, and report our experiences of medical and surgical treatment to date.In the craniodiaphyseal dysplasia, the hearing abnormality progressed from an initial conductive to a mixed loss on serial audiometric follow up. Temporal bone CT scans showed narrowing of the middle ear cavity, internal auditory meatus, and facial nerve canal at the geniculate ganglion. Benefits from choanal stenosis surgery, craniofacial remodelling and dacrocystorhinostomy were shortlived. Calcitriol therapy with a low calcium diet did not alter the clinical course of progression in our cases. The underlying defect, causing net bone formation in these phenotypically similar syndromes, appears to be different when based on the differing biochemical responses to calcitriol and bone biopsy findings. Increased numbers of osteoblasts were found in bone biopsies from both cases with craniodiaphyseal dysplasia.Early recognition is crucial in these conditions as therapy directed at the underlying bony defect has the best chance of success if initiated in infancy (Cole et al., 1988; Fanconi et al., 1988).