Division of Neonatology, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA.
Department of Obstetrics and Gynecology, University of California Los Angeles, Los Angeles, CA.
Neoreviews. 2021 Apr;22(4):e216-e229. doi: 10.1542/neo.22-4-e216.
With over 400 reported disorders, the skeletal dysplasias represent a myriad of molecularly-based skeletal abnormalities. Arising from errors in skeletal development, the clinical spectrum of disease evolves through an affected individual's life. The naming and grouping of these disorders are ever-changing, but the fundamentals of diagnosis remain the same and are accomplished through a combination of prenatal ultrasonography and postnatal physical examination, radiography, and genetic analysis. Although some disorders are lethal in the perinatal and neonatal periods, other disorders allow survival into infancy, childhood, and even adulthood with relatively normal lives. The foundation of management for an affected individual is multidisciplinary care. Medical advances have offered new insights into reducing common morbidities through pharmacologic means. This review summarizes the normal skeletal development and discusses the 3 most common skeletal dysplasias that can affect the newborn.
骨骼发育不良症共有超过 400 种已报告的疾病，代表了无数种基于分子的骨骼异常。这些疾病源于骨骼发育过程中的错误，其临床表现随着受影响个体的一生而发展。这些疾病的命名和分组一直在变化，但诊断的基本原则仍然相同，通过产前超声和产后体格检查、放射线检查和基因分析相结合来实现。尽管一些疾病在围产期和新生儿期是致命的，但其他疾病可以使个体存活至婴儿期、儿童期甚至成年期，且生活相对正常。受影响个体的管理基础是多学科护理。医学进步为通过药物手段减少常见并发症提供了新的见解。这篇综述总结了正常骨骼发育，并讨论了可能影响新生儿的 3 种最常见的骨骼发育不良症。
