Różdżyńska-Świątkowska Agnieszka, Szklanny Krzysztof, Marucha Jolanta, Tylki-Szymańska Anna
Anthropology Laboratory, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Multimedia Department, Polish-Japanese Academy of Information Technology, 02-008 Warsaw, Poland.
Diagnostics (Basel). 2020 Feb 20;10(2):116. doi: 10.3390/diagnostics10020116.
Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. This study aimed to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA.
Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. The diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient.
Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with age as a result of the relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with the ratio of chest depth to chest width being significantly above the norm. The head and neck were relatively elongated, in comparison to body height, and tucked between narrow shoulders. The head had dolichocephalic shape, while the nose was short with wide nostrils.
Multiple anthropometric measurements, including age ranges, allowed for the creation of a model that showed the most characteristic features of the MPS IVA phenotype.
莫尔基奥A综合征或黏多糖贮积症（MPS）IVA是一种常染色体隐性、危及生命的溶酶体贮积病，由氨基半乳糖-6-硫酸酯酶活性不足引起。诸如身体 stature异常等常见早期症状有助于及时诊断。本研究旨在根据对一组波兰MPS IVA患者进行的人体测量数据，创建面部和身体stature模式。
对20例年龄从3个月至26岁的MPS IVA患者进行了11项身体测量和14项颅面特征分析。MPS IVA的诊断通过酶学和分子分析得以证实。采用双尾t检验比较MPS IVA患者与一般人群出生时的身长和体重平均值。为了显示偏差程度和方向，计算了z分数，然后用于构建平均MPS IVA患者模型。
男孩出生时的身高和体重平均值高于一般人群。观察到的头部和身体形状模式表明，由于躯干和下肢相对较短，侏儒症随年龄增长而出现。骨骼异常包括钟形胸部，胸深与胸宽之比明显高于正常水平。与身高相比，头颈部相对拉长，并夹在狭窄的肩部之间。头部呈长头形，而鼻子短，鼻孔宽。
多项人体测量，包括年龄范围，有助于创建一个显示MPS IVA表型最特征性特征的模型。
