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Microcephaly, large eyes, beak-like nose, narrow face, retrognathism, malocclusion; Mental handicap; Agenesis of the corpus callosum, cerebral cysts; Other abnormalities can be a supportive criteria, such as: anemia, pancytopenia, cleft lip/palate scoliosis or kyphoscoliosis. [8] Genetic testing can confirm diagnosis. [5]
Microcephaly can be primary, where the brain fails to develop properly during pregnancy, or secondary, where the brain is normal sized at birth but fails to grow as the child ages. [2] Abnormalities will be observed progressively after birth whereby the child will display stunted growth and physical and cognitive development.
Infants with GLUT1 deficiency syndrome have a normal head size at birth, but the growth of the brain and skull is slow, in severe cases resulting in an abnormally small head size (microcephaly). [4] Typically, seizures start between one and four months in 90% of cases with abnormal eye movements and apneic episodes preceding the onset of ...
Microcephaly (from Neo-Latin microcephalia, from Ancient Greek μικρός mikrós "small" and κεφαλή kephalé "head" [2]) is a medical condition involving a smaller-than-normal head. [3] Microcephaly may be present at birth or it may develop in the first few years of life. [3]
In most cases, a repeat test should be done at approximately two weeks of age to verify the initial test and uncover any phenylketonuria that was initially missed. [13] Untreated children often fail to attain early developmental milestones, develop microcephaly, and demonstrate progressive impairment of cerebral function.
Rubella infection in pregnancy can result in various outcomes ranging from asymptomatic infection to congenital defects to miscarriage and fetal death. [3] [4] If infection occurs 0–11 weeks after conception, the infant has a 90% risk of being affected. [1] If the infection occurs 12–20 weeks after conception, the risk is 20%.
The researchers found that the prevalence of major birth defects was 4.7% in children of fathers not exposed to diabetes medications in the months leading up to conception, compared with 6.2% in ...
For infants who are infected by their mothers before birth, two potential adverse scenarios exist: Generalized infection may occur in the infant, and can cause complications such as low birth weight, microcephaly, seizures, petechial rash similar to the "blueberry muffin" rash of congenital rubella syndrome, and moderate hepatosplenomegaly (with jaundice).