非编码RNA基因RMRP中的双等位基因突变导致软骨-毛发发育不全(CHH),一种罕见的骨骼发育不良,其主要表型特征是严重的进行性生长迟缓。
这项研究比较了CHH个体与健康受试者的颅骨尺寸。
分析了17例CHH患者(年龄范围10至59岁)和34例健康个体(年龄范围10至54岁)的侧颅骨X线照片,以了解颌骨与颅底的相对位置。颅面高度和深度,以及下颌的垂直生长模式,前颅底角,颈椎和颅底的关系.
我们发现上颚和下颚的长度,与对照组相比,CHH患者的斜坡明显减少。CHH患者的前颅基角较大。找不到基底内陷。
这项研究发现CHH患者没有严重的颅面受累,除了短下巴.出乎意料的是,下颌骨缺乏不会导致骨骼II类错牙合。
虽然CHH患者的颌骨较短,它们是成正比的。短的后颅底与颅颈交界处病理无关。
Biallelic mutations in the non-coding RNA gene RMRP cause Cartilage-hair hypoplasia (CHH), a rare skeletal dysplasia in which the main phenotypic characteristic is severe progressive growth retardation.
This
study compared the cranial dimensions of individuals with CHH to healthy subjects.
Lateral skull radiographs of 17 patients with CHH (age range 10 to 59 years) and 34 healthy individuals (age range 10 to 54 years) were analyzed for relative position of the jaws to skull base, craniofacial height and depth, as well as vertical growth pattern of the lower jaw, anterior cranial base angle, and the relationship between the cervical spine and skull base.
We found that the length of the upper and lower jaws, and clivus were significantly decreased in patients with CHH as compared to the controls. Anterior cranial base angle was large in patients with CHH. Basilar invagination was not found.
This
study found no severe craniofacial involvement of patients with CHH, except for the short jaws. Unexpectedly, mandibular deficiency did not lead to skeletal class II malocclusion.
Although the jaws were shorter in patients with CHH, they were proportional to each other. A short posterior cranial base was not associated with craniocervical junction pathology.