syndromes
Terms
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- AMNIOTIC BAND SYNDROME
- Bands within the amniotic fluid adhere to the fetus and amputate portions of limbs. In its most severe form, it causes the limb/body wall complex.
- ARNOLD-CHIARI MALFORMATION (TYPE II)
- Low position of the cerebellum in the upper cervical spinal canal due to cord tethering. Associated with “Lemon†skull shape, banana-shaped cerebellum, and hydrocephalus.
- CYTOMEGALIC INCLUSION DISEASE (CMV)
- Fetal viral disease sometimes resulting in intracranial calcification, microcephaly, and mental deficiency.
- DANDY-WALKER SYNDROME
- Brain anomaly with a dilated fourth ventricle and possible secondary dilatation of the rest of the ventricles of the brain. A small cerebellum is the cardinal feature.
- DOWN SYNDROME (MONGOLISM
- Syndrome seen predominantly in the fetuses of women who are over 35 yrs old; recognizable at amniotic fluid analysis or chorionic villus sampling by the presence of an abnormal chromosome. It is associated with congenital heart disease and duodenal atresia.
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ELLIS-van CREVELD SYNDROME
(SIX-FINGERED DWARFISM) - TYPE OF DWARFISM IN WHICH THERE ARE EXTRA DIGITS
- CYSTIC ADENOMATOID MALFORMATION
- Anomaly in which a part of the lung is replaced by cysts.
- HOLT-ORAM SYNDROME
- Congenital syndrome consisting of a combination of heart disease and absence of a digit or the radius in the arm.
- HYPOPLASTIC LEFT HEART SYNDROME
- Congenital abnormality in which the aorta and left side of the heart are too small. This condition is often fatal after birth, even with surgery.
- LIMB / BODY WALL SYNDROME
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SAME AS CYLLOSOMA
lethal abnormality thought to be due to the amniotic bands. Features are Gastroschisis, spinal fifida, kyphoscoliosis, and absent limbs. -
MECKEL'S SYNDROME
(MECKEL-GRUBER SYNDROME) - A lethal syndrome consisting of infantile polycystic kidney, Encephalocele, and extra digits (polydactyly).
- MEGACYSTIS MICROCOLON SYNDORME
- Rare anomaly with huge bladder, dilated ureters, and calyces, and minute large bowel. Only the bladder is visible w/ u/s. Most patients are female, and there is often polyhyramnios.
- POTTER'S SYNDROME
- Fetus with bilateral renal abnormalities, which may consist of absent kidneys, bilateral hydronephrosis, bilateral multicystic dysplastic kidneys, or infantile polycystic kidney. Anhydramnios may accompany this syndrome. The consequences of absent amniotic fluid-unusual face, deformed limbs, and hypoplastic lungs-will be seen at birth. Most such fetuses are stillborn.
- PRUNE BELLY (EAGLE-BARRETT) SYNDROME (AGENESIS OF THE ABDOMINAL MUSCLES)
- Congenital condition in which there are weakened or absent abdominal wall muscles, markedly distended ureters with tiny or hydronephrotic kidneys, and a large bladder.
- TURNER'S SYNDROME
- One sex chromosome is absent. Associated with Cystic Hygroma, a webbed neck, and mental deficiency.
- ACETYLCHOLINESTERASE
- An enzyme found in the amniotic fluid when a neural crest anomaly is present. It may be found in trace amounts if an abdominal wall defect, such as omphalocele, is present.
- ALPHA-FETOPROTEIN ( AFP)
- An enzyme found in maternal blood and amniotic fluid that is elevated in the presence of neural crest anomalies, some gastrointestinal anomalies, fetal death, twins, wrong estimation of dates, fetal masses such as Sacrococcygeal teratoma and cystic hygroma, and maternal liver problems. Low levels of AFP are associated with Down syndrome
- KAROTYPE
- Process of performing chromosomal analysis on a fetus.