咳嗽、发热、音哑、呼吸困难

教学查房是我刊推出的一个新栏目 ,旨在利用刊物提高青年医生及基层医生的临床思维。一个病尤其是疑难或少见病 ,怎样正确地一步步思考 ,使诊断由模糊到清晰 ,由疑诊到确诊 ,尽快合理地治疗是医生的重要职责。查房既为患儿解决了问题、总结了经验教训 ,又锻炼了医生的临床工作能力、提高了医疗水平。欢迎教学医院的临床教师、一线医生都来关心和支持本栏目 ,使栏目逐渐成熟 ,受到同道欢迎。     

Mental retardation,hypotonia, obesity,ocular, facial,dental, and limb abnormalities (Cohen Syndrome)

Three patients with features of the Cohen Syndrome are reported. Main facial features are prominent nasal bridge, short philtrum, prominent upper central incisors, and retrogenia. There is microcephaly and short stature. Truncal obesity appears in mid childhood. Mental retardation seems to be severe. There is marked variability among the as yet reported cases. The best diagnostic criteria seem to be the typical face and mental retardation. As yet 3 affected sibs, offspring of healthy, non consanguineous parents are reported, as well as 8 sporadic cases. The condition seems inherited as auto-somal recessive. The variability of this condition is discussed.     

Autism: definition, neurobiology, screening, diagnosis

Autism (ie, the autism spectrum disorders) is now recognized in 1 in 150 children. This article highlights the definition, neurobiology, screening, and diagnosis of autism. The genetics, immunology, imaging, and neurophysiology of autism are reviewed, with particular emphasis on areas that impact pediatricians. Early recognition of the social deficits that characterize autism is key to maximizing the potential of these children.