Merritt Linda
North Texas Hospital for Children at Medical Coty, Dallas, TX 75230, USA.
Adv Neonatal Care. 2003 Aug;3(4):178-86; quiz 187-8. doi: 10.1016/s1536-0903(03)00137-1.
Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. It presents with a distinct respiratory pattern and profound tachypnea in the newborn period. This article provides an overview of the condition and discusses the embryologic origins of this syndrome. A focused history and systematic physical assessment provide a step-by-step guide to enhance the early recognition of clinical signs and symptoms of this disorder. A series of clinical photographs and a brief case report offer insight into the classic presentation of this uncommon disorder. The diagnosis of Joubert syndrome is confirmed with magnetic resonance imaging, which reveals a classic neuroradiologic finding, characterized as the molar tooth sign. A discussion of the range of developmental outcomes and complex multispecialty care and intensive support that these infants and their families require is also provided.
乔伯特综合征是一种罕见的常染色体隐性疾病，会影响小脑和脑干。它在新生儿期表现出独特的呼吸模式和严重的呼吸急促。本文概述了该病症，并讨论了该综合征的胚胎学起源。详细的病史和系统的体格检查提供了逐步指导，以加强对该疾病临床体征和症状的早期识别。一系列临床照片和一份简短的病例报告有助于深入了解这种罕见疾病的典型表现。乔伯特综合征的诊断通过磁共振成像得以证实，该成像显示出一种典型的神经放射学表现，即磨牙征。本文还讨论了这些婴儿及其家庭所需的一系列发育结局以及复杂的多专科护理和强化支持。
