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The etiology of microtia in children remains uncertain but there are some cases that associate the cause of microtia with genetic defects in multiple or single genes, altitude, and gestational diabetes. [3] Risk factors gathered from studies include infants born underweight, male sex, women gravidity and parity, and medication use while pregnant.
CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder.First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, restricted growth or development, genital or urinary abnormalities, and ear abnormalities and deafness. [1]
Bronchial atresia is a rare congenital disease characterized by segmental or lobar emphysema and, in some cases, mucoid impaction. The exact cause of bronchial atresia is unknown; the lobar bronchi, subsegmental bronchi, and distal bronchioles develop in the fifth, sixth, and sixteenth weeks of fetal development, respectively.
"20% to 40% of children with microtia/anotia will have additional defects that could suggest a syndrome." [1] Treacher-Collins syndrome: (TCS) A congenital disorder caused by a defective protein known as treacle, and is characterized by craniofacial deformities; malformed or absent ears are also seen in this syndrome. The effects may be mild ...
Other abnormalities include anal atresia, absence of the rectum and sigmoid colon, esophageal and duodenal atresia, and a single umbilical artery. Presence of a diaphragmatic hernia is also common in these fetuses/infants. Additionally, the alveolar sacs of the lungs fail to properly develop as a result of the reduced volume of amniotic fluid.
Duodenal atresia is the congenital absence or complete closure of a portion of the lumen of the duodenum. It causes increased levels of amniotic fluid during pregnancy (polyhydramnios) and intestinal obstruction in newborn babies. Newborns present with bilious or non-bilous vomiting (depending on where in the duodenum the obstruction is) within ...
Anal atresia or imperforate anus is seen in about 55 to 90 percent of patients with VACTERL association. These anomalies are usually noted at birth. [7] It often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal. [5]
Incidence of congenital malformations associated with tracheal agenesis. Results were obtained from a total of 32 individual case studies. [11]The classic in-utero symptoms of tracheal agenesis are an absence of the trachea leading to congenital high airway obstruction syndrome, [12] [13] lung distention, polyhydramnios, heart malformations, heart displacement and hydrops fetalis.