Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - More common than assumed? Report of four cases with transient NIHF and a review of the literature

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Whybra, Catharina ^a   Mengel, Eugen ^a   Russo, Alexandra ^a   Bahlmann, Franz ^b   Kampmann, Christoph ^a   Beck, Michael ^a   Eich, Elke ^c   Mildenberger, Eva ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b University Medical Center of the Johannes Gutenberg University ^*  (Germany)

^c SANOFI   (France)

Author keywords

Clinical approach; Congenital ascites; Lysosomal storage disease; Non immunological hydrops fetalis; Transient hydrops

Indexed keywords

URSODEOXYCHOLIC ACID;

AMNIOCENTESIS; ASCITES; BLOOD CHEMISTRY; BRADYCARDIA; CASE REPORT; CESAREAN SECTION; CHILD; CHOLESTASIS; CONGENITAL ASCITES; DIAGNOSTIC TEST; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; EYE EXAMINATION; FAMILY HISTORY; FETUS ECHOGRAPHY; FETUS FUNCTION TEST; FETUS HYDROPS; GESTATIONAL AGE; HEPATOSPLENOMEGALY; HIP DYSPLASIA; HISTOPATHOLOGY; HUMAN; HYDROTHORAX; INFANT; INGUINAL HERNIA; LIVER BIOPSY; LYSOSOME STORAGE DISEASE; MALE; MEDLINE; MORQUIO SYNDROME TYPE A; MUCOPOLYSACCHARIDOSIS; MUTATIONAL ANALYSIS; NEONATAL CHOLESTASIS; NIEMANN PICK DISEASE; NON IMMUNOLOGICAL HYDROPS FETALIS; PERINATAL PERIOD; PLEURA EFFUSION; REVIEW; RISK FACTOR; SIBLING; SYSTEMATIC REVIEW (TOPIC);

FEMALE; HUMANS; HYDROPS FETALIS; LYSOSOMAL STORAGE DISEASES; MALE; PREGNANCY;

EID: 84868469673     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-86     Document Type: Review

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