Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Δ7-reductase activity in chorionic villi

Prenatal Diagnosis

Volumn 20, Issue 3, 2000, Pages 238-240

  Linck, L M ^a   Hayflick, S J ^a   Lin, D S ^a   Battaile, K P ^a   Ginat, S ^a   Burlingame, T ^a   Gibson, K M ^a   Honda, M ^b   Honda, A ^b   Salen, G ^b,c   Tint, G S ^b,c   Connor, W E ^a   Steiner, R D ^a,d  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

^d CDRC P   (United States)

Author keywords

7 Dehydrocholesterol reductase; Metabolic disorder; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; BRASSICASTEROL; ERGOSTEROL; OXIDOREDUCTASE; STEROL;

ARTICLE; AUTOPSY; CASE REPORT; CHORION VILLUS SAMPLING; CLEFT PALATE; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; FETUS; FETUS DEATH; FETUS ECHOGRAPHY; HEART SEPTUM DEFECT; HUMAN; HUMAN TISSUE; MICROGNATHIA; OLIGOHYDRAMNIOS; POLYDACTYLY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; STEROL ANALYSIS; SYNDACTYLY;

ADULT; CHOLESTEROL; CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; DEHYDROCHOLESTEROLS; ERGOSTEROL; FEMALE; FETAL DEATH; GESTATIONAL AGE; HUMANS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PREGNANCY; SMITH-LEMLI-OPITZ SYNDROME; STEROLS; ULTRASONOGRAPHY, PRENATAL;

EID: 17344381512     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(200003)20:3<238::AID-PD792>3.0.CO;2-W     Document Type: Article

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