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普拉德-拉巴尔特-威利综合征患者的颅面变异与生长

Craniofacial variation and growth in the Prader-Labhart-Willi syndrome.

作者信息

Meaney F J, Butler M G

机构信息

Department of Medical Genetics, Indiana University School of Medicine, Indianapolis.

出版信息

Am J Phys Anthropol. 1987 Dec;74(4):459-64. doi: 10.1002/ajpa.1330740405.

Abstract

A study of anthropometric variation and craniofacial growth in individuals with the Prader-Labhart-Willi syndrome (PLWS) illustrates the utility of anthropometry in clinical evaluation and research. Anthropometric measurements, including head length and breadth, minimum frontal diameter, and head circumference, were obtained on 38 PLWS individuals (21 with chromosome 15 deletions) with an age range from 2 weeks to 39 years. No anthropometric differences were found between the two chromosome subgroups. A relative deceleration in the growth of certain craniofacial dimensions (head circumference and length) is suggested by the negative correlations between age and Z-scores for the measurements. Raw values for minimum frontal diameter and head breadth were near or below the 5th percentile curve, while almost all values for head length and circumference fell within normal limits. The data support suggestions that dolichocephaly be considered an early diagnostic feature of PLWS. Furthermore, the status of narrow bifrontal diameter as a major feature of PLWS is confirmed.

摘要

一项关于普拉德-拉巴尔特-威利综合征(PLWS)患者人体测量变异和颅面生长的研究,阐明了人体测量在临床评估和研究中的实用性。对38名年龄在2周至39岁之间的PLWS患者(21名有15号染色体缺失)进行了人体测量,包括头长、头宽、最小额径和头围。两个染色体亚组之间未发现人体测量差异。测量值的年龄与Z评分之间的负相关表明,某些颅面尺寸(头围和头长)的生长相对减速。最小额径和头宽的原始值接近或低于第5百分位曲线,而头长和头围的几乎所有值都在正常范围内。这些数据支持了将长头畸形视为PLWS早期诊断特征的观点。此外,窄双额径作为PLWS主要特征的地位得到了证实。

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