Congenital erythropoietic porphyria (Günther's disease): Two cases with very early prenatal manifestation and cystic hygroma

Prenatal Diagnosis

Volumn 23, Issue 1, 2003, Pages 25-30

  Pannier, E ^a   Viot, G ^a   Aubry, M C ^a   Grange, G ^a   Tantau, J ^b   Fallet Bianco, C ^c   Muller, F ^d   Cabrol, D ^a  

^a Maternité Port Royal ^*  (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c CENTRE HOSPITALIER SAINTE ANNE   (France)

^d HÔPITAL AMBROISE PARÉ   (France)

Author keywords

Congenital erythropoietic porphyria; Nonimmune hydrops fetalis; Nuchal cystic hygroma; Phenotype genotype correlation; Prenatal diagnosis

Indexed keywords

ADULT; AGE DISTRIBUTION; AMNION FLUID; ARTICLE; BONE DISEASE; CASE REPORT; CONGENITAL ERYTHROPOIETIC PORPHYRIA; CYSTIC LYMPHANGIOMA; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; EARLY DIAGNOSIS; FEMALE; FETUS (ANATOMY); FETUS ECHOGRAPHY; FETUS HYDROPS; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; INTRAUTERINE GROWTH RETARDATION; KIDNEY DISEASE; MOLECULAR BIOLOGY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCREENING;

ABORTION, EUGENIC; ADULT; AMNIOCENTESIS; AMNIOTIC FLUID; COPROPORPHYRINS; FEMALE; FETAL DISEASES; FETAL GROWTH RETARDATION; GESTATIONAL AGE; HEAD AND NECK NEOPLASMS; HETEROZYGOTE; HUMANS; HYDROPS FETALIS; KIDNEY DISEASES; LYMPHANGIOMA, CYSTIC; MUTATION; PORPHYRIA, ERYTHROPOIETIC; PREGNANCY; ULTRASONOGRAPHY, PRENATAL; UROPORPHYRINS;

HYDROPS;

EID: 0037244868     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.491     Document Type: Article

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