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  2. Spinal muscular atrophy - Wikipedia

    en.wikipedia.org/wiki/Spinal_muscular_atrophy

    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]

  3. Congenital muscular dystrophy - Wikipedia

    en.wikipedia.org/wiki/Congenital_muscular_dystrophy

    Finally, myoclonic seizures may occur at a very early age (3 months). [24] CDG Ie (DPM1) at birth the infant will have weakness with involvement of the respiratory system, as well as, severe mental and psychomotor problems.By age of 3, the individual may be blind with speech problems. Microcephaly may occur in early childhood, as well as seizures.

  4. Spina bifida - Wikipedia

    en.wikipedia.org/wiki/Spina_bifida

    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]

  5. Pediatric early warning signs - Wikipedia

    en.wikipedia.org/wiki/Pediatric_Early_Warning_Signs

    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.

  6. Congenital vertebral anomaly - Wikipedia

    en.wikipedia.org/wiki/Congenital_vertebral_anomaly

    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 ...

  7. Tethered cord syndrome - Wikipedia

    en.wikipedia.org/wiki/Tethered_cord_syndrome

    The conus medullaris (or lower termination of the spinal cord) normally terminates at or above the L1-2 disk space (where L1 is the first, or topmost lumbar vertebra). After about 3 months of age, a conus below the L1-2 disk space may indicate a tethered cord and termination below L3-4 is unmistakably tethered.

  8. Caudal regression syndrome - Wikipedia

    en.wikipedia.org/wiki/Caudal_regression_syndrome

    [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]

  9. Newborn screening - Wikipedia

    en.wikipedia.org/wiki/Newborn_screening

    Newborn screening (NBS) is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the ...