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doi: 10.7554/eLife.01305 Image MRI scan of a patient with CHARGE syndrome CHARGE syndrome is a genetic condition that involves multiple malformations in newly born children.
Azathioprine injected intraperitoneally in doses equivalent to 4 to 13 times the therapeutic human dose caused skeletal defects and multiple malformations in mice and rabbits exposed during gestation [ 125].
Urogenital disorders were found to represent part of multiple malformations in a total of 28 cases as follows: prenatal diagnosis of urogenital malformation and the findings of postnatal examinations completely coincided in three patients (11%), partial coincidence was found in 22 newborns (79%) and in another three patients (11%), the disorder was not detected prenatally.
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Inactivation of lrp2 (megalin) results in multiple malformations later in embryonic/fetal development that include neuroepithelial defects, and craniofacial and lung dysmorphologies similar to those observed in RFC1-/ mutants on high dose maternal folate [see Additional file 2].
Two systems were affected in 12 cases of multiple malformations and in 16 cases, the number of affected systems was ≥3.
There were more isolated malformations in the false-positive group and more multiple malformations (≥4) in the diagnostic misclassification group (p = 0.0001).
Infants with multiple malformations were in excess at preexisting diabetes but not at gestational diabetes but the specific type of malformations involved were similar in the two diabetes groups.
Of the 140 newborns, 108 were diagnosed with a single urogenital malformation, 4 cases were associated with chromosome aberrations whereas other multiple malformations were detected in 28 babies.
Smith-Lemli-Opitz syndrome (SLOS) results in multiple malformations, growth deficiency, and mental retardation.
Cédric le Caignec University Hospitall, Nantes, France) presented results from a recent study to estimate the feasibility and the rate of detection of chromosomal abnormalities in fetuses with multiple malformations, a first step before the implementation of array-CGH in prenatal diagnosis.
It has already been reported that the value of ultrasound is limited in situations with multiple malformations [ 23, 33].
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