[Prenatal diagnosis of hydrolethalus (Salonen-Herva-Norio syndrome) in a woman with unknown risk: presentation of a case with long survival].
A female infant with hydrolethalus (Salonen-Herva-Norio) syndrome, an autosomal recessive disorder, is reported. This condition was suspected at 26 weeks of gestation by fetal ultrasonographic examination. The pregnancy was complicated by polyhydramnios. The newborn showed hydrocephalus, occipital encephalocele, micrognathia, interventricular defect, hallucal duplication. The patient died at age 5 months and 11 days.
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Centro di genetica umana, Ospedali Galliera di Genova.
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Centa
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Zucchinetti
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Barbieri
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Garaventa
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D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000401:mortality; D000328:Adult; D004677:Encephalocele / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000401:mortality; D006345:Heart Septal Defects, Ventricular / Q000000981:diagnostic imaging; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging; D008844:Micrognathism / Q000000981:diagnostic imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography
Diagnosi prenatale di "Hydrolethalus" (sindrome di Salonen-Herva-Norio) in donna a rischio sconosciuto: presentazione di un caso con sopravvivenza prolungata.