Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

A K Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, R M Winter, J Burn, A K Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, R M Winter, J Burn

Abstract

We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Important common features which emerged include short thumbs, severe photosensitivity, aggressive behaviour, and atrioventricular septal defect. The typical facial appearance becomes less obvious with age and 20% of cases did not have 2/3 toe syndactyly. Biochemical measurements of serum 7-dehydrocholesterol did not correlate with clinical severity.

References

    1. Clin Dysmorphol. 1997 Jan;6(1):69-73
    1. Am J Med Genet. 1996 Dec 30;66(4):478-84
    1. Am J Med Genet. 1997 Jan 31;68(3):263-9
    1. Am J Med Genet. 1997 Jan 31;68(3):270-8
    1. Am J Med Genet. 1997 Jan 31;68(3):300-4
    1. Am J Med Genet. 1997 Jan 31;68(3):305-10
    1. Am J Med Genet. 1997 Jan 31;68(3):315-21
    1. Am J Med Genet. 1997 Jan 31;68(3):328-37
    1. J Pediatr. 1964 Feb;64:210-7
    1. Am J Med Genet. 1994 May 1;50(4):368-74
    1. Am J Med Genet. 1980;5(2):137-43
    1. Am J Med Genet. 1987 Jan;26(1):45-57
    1. Am J Med Genet. 1987 Nov;28(3):723-31
    1. Am J Med Genet. 1989 Nov;34(3):358-65
    1. J Med Genet. 1990 Jul;27(7):465-6
    1. Lancet. 1993 May 29;341(8857):1414
    1. N Engl J Med. 1994 Jan 13;330(2):107-13
    1. Am J Med Genet. 1994 Jan 15;49(2):240-3
    1. Am J Med Genet. 1994 May 1;50(4):344-6
    1. Am J Med Genet. 1995 Apr 10;56(3):265-8
    1. Am J Med Genet. 1995 Apr 10;56(3):269-71
    1. Am J Med Genet. 1995 Apr 10;56(3):272-5
    1. Am J Med Genet. 1995 Apr 10;56(3):281-5
    1. Am J Med Genet. 1995 Apr 10;56(3):286-7
    1. J Pediatr. 1995 Jul;127(1):82-7
    1. Clin Chim Acta. 1995 Apr 30;236(1):45-58
    1. J Lipid Res. 1995 Jul;36(7):1595-601
    1. Pediatr Res. 1996 May;39(5):816-9
    1. Lancet. 1996 Aug 10;348(9024):404
    1. Am J Med Genet. 1997 Jan 31;68(3):251-6

Source: PubMed

Sponsoren und Mitarbeiter

Krankheiten

Drogeninterventionen

3
Abonnieren