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Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6]
Lumbosacral transitional vertebrae consist of the process of the last lumbar vertebra fusing with the first sacral segment. [1] While only around 10 percent of adults have a spinal abnormality due to genetics, a sixth lumbar vertebra is one of the more common abnormalities. [2] Sacralization of the L5 vertebra is seen at the lower right of the ...
Spina bifida with myelocele is the most severe form of myelomeningocele. In this type, the involved area is represented by a flattened, plate-like mass of nervous tissue with no overlying membrane. The exposure of these nerves and tissues make the baby more prone to life-threatening infections such as meningitis. [33]
Anatomy and physiology is different in infants and children than adults and vary with age, which produces normal ranges for electrocardiograms. [26] Capillary refill is used across the lifespan as a cardiovascular assessment parameter because it is a non-invasive, quick test to help determine blood flow to the tissues.
[9] 19 genes have been discovered that cause α-DG-related dystrophies, with a wide range of phenotypic effects observed, characterized by brain malformations along with muscular dystrophy. [ 12 ] [ 13 ] [ 15 ] Walker-Warburg syndrome (WWS) is the most severe dystroglycanopathy phenotype, with the POMT1 gene as the first reported causative gene ...
[3] [4] Other causes are presumably involved, as demonstrated by the rare overall incidence of caudal regression syndrome (1:60,000) compared to diabetes; however, the condition does have a greatly increased incidence among infants born to mothers with diabetes, estimated at 1 in 350 newborns of mothers with diabetes. [2]
Neonatal sepsis of the newborn is an infection that has spread through the entire body. The inflammatory response to this systematic infection can be as serious as the infection itself. [26] In infants that weigh under 1500 g, sepsis is the most common cause of death. Three to four percent of infants per 1000 births contract sepsis.
Congenital dermal sinus is an uncommon form of cranial or spinal dysraphism. [2] [3] It occurs in 1 in 2500 live births. [3]It occurs as a dermal indentation, found along the midline of the neuraxis and often presents alongside infection and neurological deficit. [2]