Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen

American Journal of Medical Genetics

Volumn 68, Issue 3, 1997, Pages 257-259

  Oostra, Roelof Jan ^a,b   Baijet, Bob ^a   Schutgens, Ruud B H ^a   Hennekam, Raoul C M ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

anatomical specimen; cholesterol synthesis; dermatoglyphics; early report; Smith Lemli Opitz syndrome; Willem Vrolik

Indexed keywords

ARTICLE; CHOLESTEROL SYNTHESIS; CONTROLLED STUDY; DERMATOGLYPHICS; HUMAN; HUMAN TISSUE; INFORMATION CENTER; PRIORITY JOURNAL; SKIN BIOPSY; SMITH LEMLI OPITZ SYNDROME;

CADAVER; HISTORY, 19TH CENTURY; HUMANS; INFANT, NEWBORN; MALE; NETHERLANDS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0031043436     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970131)68:3<257::AID-AJMG2>3.0.CO;2-J     Document Type: Article

References (5)

1. Dusseau JL (1865): "Musée Vrolik. Catalogue de la Collection d'Anatomie Humaine, Comparée et Pathologique. De M.M. Ger. et W. Vrolik, Professeurs àl'Athénée Illustre d'Amsterdam." Amsterdam: J. RoeverKröber.
2. Oostra RJ, Baijet B, Hennekam RCM (1994): Brachmann-De Lange syndrome "avant la lettre." Am J Med Genet 52:267-268.
3. Smith DW, Lemli L, Opitz JM (1964): A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217.
4. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G (1994): Defective cholesterol biosynthesis associated with the Smith-LemliOpitz syndrome. N Engl J Med 330:107-113.
5. Vrolik W (1849): "Tabulae ad Illustrandam Embryogenesin Hominis et Mammalium Tarn Naturalem Quam Abnormem." Amsterdam: Londonck.