Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...

Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in "Nosology and Classification of genetic skeletal disorders (2010 version)" using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been repo...

Hyper-immunoglobulin E (IgE) is a disorder of immune system characterized by assemblage symptoms including recurrent skin and pulmonary infections, skeletal anomalies elevated serum IgE (>2000 IU/ml). More recently, apart from the typical features, neurological manifestations have also been described central nervous facial nerve palsy demyelinating disorders. Here we describe three patients ...

Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy metabolism as well. Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, mus...

Neuropathic Disorders The peripheral nervous system (PNS) comprises the cranial nerves, spinal nerve roots, dorsal root ganglia, the peripheral nerve trunks (motor and sensory nerves), the terminal branchings of motor nerves as they innervate skeletal muscle, and the peripheral autonomic system [1]. Disorders of the parent cell bodies located in the spinal cord (and/or brainstem) are discussed ...