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Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac.It is seen in about 1% of pregnancies. [1] [2] [3] It is typically diagnosed when the amniotic fluid index (AFI) is greater than 24 cm. [4] [5] There are two clinical varieties of polyhydramnios: chronic polyhydramnios where excess amniotic fluid accumulates gradually, and acute polyhydramnios ...
PHACE syndrome is a medical condition characterized by uncommon associations between birth defects of the brain, skin (large facial infantile hemangiomas), arteries, heart and eyes. "PHACE" is an acronym for the parts of the body the syndrome usually impacts: Posterior fossa abnormalities and other structural brain abnormalities.
In affected children studied, the first signs of Pretzel syndrome begin during gestation: 80% of mothers have polyhydramnios, extra amniotic fluid around the affected baby. The majority of mothers also have preterm labor starting anywhere from 25–38 weeks gestation. The brain is large and malformed in all affected children.
In the U.S. where many neonatal infections and other causes of neonatal death have been markedly reduced, prematurity is the leading cause of neonatal mortality at 25%. [182] Prematurely born infants are also at greater risk for having subsequent serious chronic health problems as discussed below.
The cause(s) for the cited central nervous system's defects is not understood. [25] Other studies on the severe form of FARIS reported on cases of fetuses and newborns that suffered polyhydramnios , i.e., excessive amniotic fluid in the amniotic sac , arthrogryposis , i.e., congenital joint contractures, and esophageal atresia , i.e., the ...
Benign sacrococcygeal teratomas are more likely to develop in younger children who are less than 5 months old, and older children are more likely to develop malignant sacrococcygeal teratomas. The Currarino syndrome , due to an autosomal dominant mutation in the MNX1 gene, consists of a presacral mass (usually a mature teratoma or anterior ...
Perlman syndrome (PS), also known as nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome, is a rare overgrowth syndrome caused by autosomal recessive mutations in the DIS3L2 gene. PS is characterized by macrocephaly , neonatal macrosomia , nephromegaly , renal dysplasia, dysmorphic facial features, and increased risk for Wilms ...
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below).This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.