Carey J C, Stevens C A, Haskins R
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City 84112.
Clin Commun Disord. 1992 Fall;2(4):59-72.
Congenital malformations of the craniofacial region represent an important class of human developmental disorders. Abnormalities of speech and hearing frequently occur in this vast array of conditions. Knowledge of the diagnostic criteria, genetics, and natural history of these conditions is important for audiologists and speech-language pathologists because of their close involvement with the children and families in their care-providing role. Awareness of the important distinction between individuals with isolated defects vs. individuals who have their facial defect as part of a syndrome is important in diagnosis and management. Referral for genetic counseling is always indicated in families who have questions about these issues. The dysmorphologist, genetics professional, and speech-language pathologists are among those who play key roles in the care of persons with these disorders.
颅面区域的先天性畸形是人类发育障碍的一个重要类别。在这一大类病症中，言语和听力异常经常出现。由于听力学家和言语语言病理学家在为儿童及其家庭提供护理的过程中密切参与其中，了解这些病症的诊断标准、遗传学和自然病史对他们而言很重要。在诊断和管理中，认识到仅有孤立缺陷的个体与面部缺陷作为综合征一部分的个体之间的重要区别很重要。对于对这些问题有疑问的家庭，总是需要转诊进行遗传咨询。畸形学家、遗传学专业人员和言语语言病理学家在这些疾病患者的护理中发挥着关键作用。
