J Urol. 1987 Apr;137(4):719-21.

Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome.

Joseph DB, Uehling DT, Gilbert E, Laxova R.

Abstract

The Smith-Lemli-Opitz syndrome is characterized by mental retardation, hypotonia, facial dysmorphism and abnormalities of the limbs, genitalia and kidneys. Since the latter 2 features have not been emphasized in the urological literature, the experience from the institution at which the syndrome was first described is reviewed and an illustrative case is reported. Upper urinary tract abnormalities were noted in 57 per cent and genital abnormalities in 71 per cent of the children evaluated.

PMID:: 3560332; [PubMed - indexed for MEDLINE]

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[Smith-Lemli-Opitz syndrome. Cardiologic considerations (author's transl)]. [An Esp Pediatr. 1975]
[Smith-Lemli-Opitz syndrome. Cardiologic considerations (author's transl)].
Gómez de Terreros I, Cintado Bueno C, Ariza Almeida S, González Meneses A. An Esp Pediatr. 1975 Nov-Dec; 8(6):689-94.
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[Smith-Lemli-Opitz syndrome. Description of 2 cases and review of the literature].
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[Congenital malformations of the genitourinary tract in children with Smith-Lemli-Opitz syndrome]. [Wiad Lek. 1998]
[Congenital malformations of the genitourinary tract in children with Smith-Lemli-Opitz syndrome].
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See reviews... See all...

Cited by 2 PubMed Central articles

Review The Smith-Lemli-Opitz syndrome. [J Med Genet. 2000]
Review The Smith-Lemli-Opitz syndrome.
Kelley RI, Hennekam RC. J Med Genet. 2000 May; 37(5):321-35.
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. [J Med Genet. 1991]
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.
Braegger C, Bottani A, Hallé F, Giedion A, Leumann E, Seger R, Willi U, Schinzel A. J Med Genet. 1991 Jan; 28(1):56-9.

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Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome.

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Cited by 2 PubMed Central articles

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