Department of Oral and Maxillofacial Diseases, University of Helsinki, Helsinki, Finland.
Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Front Endocrinol (Lausanne). 2021 Dec 10;12:741548. doi: 10.3389/fendo.2021.741548. eCollection 2021.
Biallelic mutations in the non-coding RNA gene 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.
非编码 RNA 基因的双等位基因突变导致软骨毛发发育不良（CHH），这是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。
本研究比较了 CHH 患者和健康受试者的颅部尺寸。
对 17 例 CHH 患者（年龄 10 至 59 岁）和 34 例健康个体（年龄 10 至 54 岁）的侧颅面骨片进行分析，以评估颌骨相对于颅底的位置、颅面部高度和深度、下颌垂直生长模式、颅前底角度以及颈椎与颅底的关系。
与对照组相比，CHH 患者的上下颌骨和斜坡长度明显缩短。CHH 患者的颅前底角度较大。未发现基底凹陷。
本研究发现 CHH 患者除颌骨短小外，无严重的颅面受累。出乎意料的是，下颌骨发育不全并未导致骨骼 II 类错合。
尽管 CHH 患者的颌骨较短，但彼此之间成比例。短的后颅底与颅颈交界区的病理无关。
