Escobar V, Eastman J, Weaver D, Melnick M
J Med Genet. 1977 Oct;14(5):355-8. doi: 10.1136/jmg.14.5.355.
Four individuals in a single family affected with maxillofacial dysostosis are reported. Maxillary hypoplasia, delayed onset of speech, and poor development of language skills without associated hearing loss are the main characteristics of the syndrome which is transmitted as an autosomal dominant. Cephalometric analysis and speech and hearing evaluation of our patients confirmed the above findings.
本文报道了一个患有颌面骨发育不全的家族中的四名患者。上颌骨发育不全、语言发育迟缓以及语言技能发育不良但无相关听力损失是该综合征的主要特征，其遗传方式为常染色体显性遗传。对我们患者的头影测量分析以及言语和听力评估证实了上述发现。
