Microcephalic dwarfism with associated low amniotic fluid 5-hydroxyindole-3-acetic acid (5HIAA). Report of a case of Cornelia de Lange syndrome.
A very low level of 5HIAA in the amniotic fluid was found in a microcephalic dwarf presenting subsequently with Cornelia de Lange syndrome. Since both the amount of amniotic fluid and the renal function after birth were normal this observation suggests that low amniotic fluid 5HIAA may be secondary to abnormalities in foetal neurological development.
D000328:Adult; D000653:Amniotic Fluid / Q000032:analysis*; D003635:De Lange Syndrome / Q000378:metabolism*; D004392:Dwarfism / Q000378:metabolism*; D005260:Female; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000032:analysis; D007231:Infant, Newborn; D008831:Microcephaly / Q000378:metabolism*; D011247:Pregnancy
D006897:Hydroxyindoleacetic Acid