Congenital disorders of glycosylation type Ia as a cause of mirror syndrome

Journal of Perinatology

Volumn 27, Issue 12, 2007, Pages 802-804

  Wurm, D ^a   Loffler G ^a   Lindinger, A ^a   Gortner, L ^a  

^a SAARLAND UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE; TRANSFERRIN; TYROSINE;

ACUTE HEART FAILURE; ADULT; ALLELE; ARTICLE; ASCITES; CASE REPORT; CESAREAN SECTION; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONVERGENT STRABISMUS; DISEASE COURSE; EARLY DIAGNOSIS; EDEMA; EXON; FEMALE; FETUS ECHOGRAPHY; FETUS HYDROPS; FETUS MORTALITY; FRAMESHIFT MUTATION; GENE INSERTION; GENOTYPE; GESTATIONAL AGE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; HYPOGLYCEMIA; ISOELECTRIC FOCUSING; MALE; MATERNAL MORTALITY; MIRROR SYNDROME; MORBIDITY; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN MORTALITY; NEWBORN SCREENING; NUCLEIC ACID BASE SUBSTITUTION; OLIGURIA; PERICARDIAL EFFUSION; PERINATAL PERIOD; POSTNATAL CARE; PREECLAMPSIA; PRENATAL CARE; PRENATAL DIAGNOSIS; RESTRICTIVE CARDIOMYOPATHY; THROMBOCYTOPENIA; WEIGHT GAIN;

CARBOHYDRATE METABOLISM, INBORN ERRORS; FEMALE; GLYCOSYLATION; HUMANS; HYDROPS FETALIS; INFANT, NEWBORN; MALE; PREGNANCY;

EID: 36549063480     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/sj.jp.7211847     Document Type: Article

References (11)

1. Abrams ME, Meredith KS, Kinnard P, Clark R. Hydrops Fetalis: A retrospective review of cases reported to a large national database and identification of risk factors associated with death. Pediatrics 2007; 120: 84-89.
2. Goeden AM, Worthington D. Spontaneous resolution of mirror syndrome. Obstet Gynecol 2005; 106: 1183-1186.
3. Stepan H, Faber R. Elevated sFlt1 level and preeclampsia with parvovirus-induced hydrops. NEJM 2006; 354: 1857-1858.
4. Rana S, Venkatesha S, DePaepe M, Chien EK, Paglia M, Karamanchi SA. Cytomegalovirus-induoed mirror syndrome associated with elevated levels of angiogenic factors. Obstet Gynecol 2007; 109: 549-552.
5. Van Selm M, Kanhai HHH, Gravenhorst JB. Maternal hydrops syndrome: A review. Obstet Gynecol Surv 1991; 46: 785-788.
6. Vidaeff AC, Pschirrer ER, Mastrobattista JM, Gilstrap LC, Ramin SM. Mirror syndrome. A case repor. J Reprod Med 2002; 47: 770-774.
7. Marquardt T, Denecke J. Congenital disorders of glycosylation: Review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 2003; 162: 359-379.
8. De Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM et al. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: A series of 26 cases. J Med Genet 2001; 38: 14-19.
9. Midgley DY, Harding K. The mirror syndrome. Eur J Obstet Gynecol Reprod Biol 2000; 88: 201-202.
10. Pirhonen JP, Hartgill TW. Spontaneous reversal of mirror syndrome in a twin pregnancy after a single fetal death. Eur J Obstet Gynecol Reprod Biol 2004; 116: 106-107.
11. Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F et al. Mutations in PMM2 that cause congenital disorders of glycosylation, Type Ia (CDG-Ia). Human Mutation 2000; 16: 386-394.