Antenatal correction of congenital diaphragmatic hernia in the human fetus is an attractive theoretical possibility that might reverse pulmonary hypoplasia before it becomes too severe for post-natal survival. Initial attempts at correcting these herniae in the human fetus have been beset with many technical problems, one of which has been to prevent acute obstruction to the ductus venosus when the left lobe of the liver is reduced back into the abdomen. We describe a new procedure intended to reduce the liver gradually so that the ductus venosus is never acutely kinked and more normal rib cage mechanics may be maintained.
A 1-year-old child with clinical features of monosomy 14 is reported. She has dysmorphic facial features including ocular colobomata, dolichocephaly and microcephaly, retinal pigmentation, severe seizures, fair curly hair and tapering fingers. There was severe mental retardation. This is the first reported case of severe mosaic monosomy 14, with up to 30% mosaicism. A recognizable facial gestalt is present in children with 14q deletions or partial monosomy 14, as well as susceptibility to infection, feeding difficulties, seizures and retinal pigmentation.
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