The Neonate with Minor Dysmorphisms

Congenital anomalies are present in at least 10% of all neonatal intensive care unit admissions, of whom many have an underlying genetic condition. About 50–60% of human congenital anomalies are of unknown etiology, and approximately one- third are caused by genetic factors. A smaller percentage of birth defects are the result of chromosomal aberrations and gene mutations. Around 1 in 40 or 2.5% of all newborns have a malformation at birth. This may be an isolated malformation or may occur together with other malformations and/or dysmorphic features as part of a malformation syndrome. Around 4000 malformation syndromes have now been delineated. Many are associated with medical problems and making a specific syndrome diagnosis can influence immediate medical management. However, the infant with dysmorphism often does not have a major malformation, and may simply have an appearance that is unusual compared with the general population and of unaffected close relatives. The chapter intends to provide semnificative data concerning the approach and management of a dysmorphic neonate, mainly when there are minor anomalies and will offer all those relevant data and try to establish a protocol guide for the approach of the dimorphic neonate

Advantages and Limitations in the Evaluation of the Neurological and Functional Deficit in Patients with Spinal Cord Injuries

(1) Background: Vertebro-medullary trauma (VMT) causes osteo-articular injuries in a varied anatomical lesion associated with multiple clinical manifestations and therapeutic indications. The neurological evaluation of patients who have suffered a spinal cord injury (SCI) is costly in testing the motor and sensory function. To standardize the assessment, several scales are used that measure the neurological deficit in order to guide subsequent treatment according to complete or incomplete SCI. The aim of this study is to identify and present the relevant tools for assessing SCI. (2) Methods: Relevant SCI studies were used for a fact-finding investigation from a rational and critical perspective of this field of research. The relationship between clinical tools and those with a psychosocial component was assessed based on studies reported in the literature. (3) Results: SCI severity scales have been proposed throughout to be able to estimate the functional prognosis of victims of these traumatic events. These tools can be divided into scales for assessing the neurological deficit due to trauma, and functional scales that assess the ability to perform daily activities, self-care, etc. (4) Conclusions: The closest scale to the need for standardization and the most accurate assessment of neurological deficits secondary to SCI is ASIA/IMSOP