Richards A, Brain C, Dillon M J, Bailey C M
Department of Otolaryngology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
J Laryngol Otol. 1996 Apr;110(4):328-38. doi: 10.1017/s0022215100133560.
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone 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.
颅骨骨干发育异常和颅骨骨干发育不良是由于长骨和颅骨的塑形错误导致的罕见骨骼遗传性疾病。这些综合征从幼年起就表现出多种耳鼻喉科症状。现在可以通过系列骨骼检查进行放射学诊断区分，这对预后很重要。我们回顾了两例颅骨骨干发育不良和两例颅骨骨干发育异常病例的临床、放射学、计算机断层扫描（CT）、耳科、听力学和组织病理学检查结果，并报告了我们目前的内科和外科治疗经验。在颅骨骨干发育不良中，听力异常在系列听力测定随访中从最初的传导性听力损失进展为混合性听力损失。颞骨CT扫描显示中耳腔、内耳道和膝状神经节处面神经管变窄。后鼻孔狭窄手术、颅面重塑和泪囊鼻腔造口术的效果是短暂的。在我们的病例中，骨化三醇联合低钙饮食治疗并没有改变疾病进展的临床过程。基于对骨化三醇的不同生化反应和骨活检结果，在这些表型相似的综合征中导致净骨形成的潜在缺陷似乎有所不同。在两例颅骨骨干发育不良病例的骨活检中均发现成骨细胞数量增加。在这些疾病中，早期识别至关重要，因为如果在婴儿期开始针对潜在骨缺陷的治疗，成功几率最大。
