after parkinsonism, dystonia is the movement disorder most commonly encountered in movement disorder clinics. it is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. dystonia is classified in three ways: age at onset, body distribution of abnormal movements, and etiology. the etiologic classification identifies fou...

Accurate determination of the cause of hearing loss is critically important for clinicians for prognosis and management. Recognition of genetic syndromes is especially important, but this is dependent upon clear delineation of the characteristics of the syndromes. Research into underlying mechanisms of hearing loss is also much more effective if the cause of the hearing loss is known to be the ...

The process of diagnosis of genetic syndromes in the newborn period is carried out in the context of parental anxiety and the grief following an often-unexpected outcome after a long pregnancy. The nursery staffs invariably have a strong interest in giving the family proper information about prognosis. This article is intended to focus on an approach to the diagnosis of genetic syndromes and to...

Although epilepsy syndromes have been recognized for over 50 years, no formally accepted International League Against Epilepsy (ILAE) classification of has existed until recently. The ILAE Task Force on Nosology and Definitions Taskforce (2017–2021) defined an syndrome as “a characteristic cluster clinical electroencephalographic features, often supported by specific etiological findings (s...

Osteosarcoma is the most common primary malignancy of bone. Most cases are sporadic without a known genetic or environmental cause. Heritable genetic predisposition syndromes are associated with a small percentage of osteosarcomas. Study of these rare disorders has provided insight into the molecular pathogenesis of osteosarcoma. Screening of at-risk families and surveillance of affected indivi...