Z Kinderheilkd. 1975;119(4):221-34.

Smith-Lemli-Opitz syndrome: review and report of two affected siblings.

Abstract

This paper reports two siblings with the Smith-Lemli-Opitz syndrome and reviews the literature on the subject. SLOS is a syndrome of multiple congenital anomalies with mental and growth retardation, unusual facies, genito-urinary and hand and foot abnormalities inherited as an autosomal recessive trait.

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The Smith-Lemli-Opitz syndrome. [Med J Aust. 1971]
The Smith-Lemli-Opitz syndrome.
Judge CG, Chakanovskis JE, Sutherland GR. Med J Aust. 1971 Jul 17; 2(3):145-7.
Smith-Lemli-Opitz syndrome: report of a new case and review of the literature. [Acta Paediatr Acad Sci Hung. 1...]
Smith-Lemli-Opitz syndrome: report of a new case and review of the literature.
Srsen S. Acta Paediatr Acad Sci Hung. 1972; 13(4):301-8.
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Deaton JG, Mendoza LO. Arch Intern Med. 1973 Sep; 132(3):422-3.
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Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA. Am J Med Genet. 1999 Nov 19; 87(2):128-33.
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Cited by 4 PubMed Central articles

Review The Smith-Lemli-Opitz syndrome. [J Med Genet. 2000]
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An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia. [J Med Genet. 1986]
An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.
Scarbrough PR, Huddleston K, Finley SC. J Med Genet. 1986 Apr; 23(2):174-5.
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome. [J Med Genet. 1987]
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
Donnenfeld AE, Zackai EH, McDonald DM, Aquino R, Emanuel BS. J Med Genet. 1987 Jul; 24(7):436-9.

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Smith-Lemli-Opitz syndrome: review and report of two affected siblings.

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