RSH (Smith-Lemli-Opitz) syndrome: "Severe" phenotype with ectrodactyly

American Journal of Medical Genetics

Volumn 75, Issue 3, 1998, Pages 283-287

  De Jong, Greetje ^a   Kirby, Pat A ^a   Muller, Linnie M ^b  

^a STELLENBOSCH UNIVERSITY   (South Africa)

^b Ultrasound Private Practice   (South Africa)

Author keywords

Ectrodactyly; Smith Lemli Opitz syndrome type II; Ultrasonography

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 7Q; CONGENITAL HEART MALFORMATION; ECTRODACTYLY; FETUS ECHOGRAPHY; GROWTH RETARDATION; HAND MALFORMATION; HUMAN; HUMAN TISSUE; KIDNEY MALFORMATION; LIMB MALFORMATION; NEWBORN; OLIGOHYDRAMNIOS; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

BRAIN; CHROMOSOMES, HUMAN, PAIR 7; FATAL OUTCOME; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; PHENOTYPE; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0032559304     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19980123)75:3<283::aid-ajmg11>3.0.co;2-l     Document Type: Article

References (17)

1. Atkin JF, Patil S (1984): Apparently new oculo-cerebro-acral syndrome. Am J Med Genet 19:585-587.
2. Belmont JW, Hawkins E, Hejtmancik JF, Greenberg F (1987): Two cases of severe lethal Smith-Lemli-Opitz syndrome. Am J Med Genet 26:65-67.
3. Berry R, Wilson H, Robinson J, Sandlin C, Tyson W, Campbell J, Porreco R, Manchester D (1989): Apparent Smith-Lernli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1). Am J Med Genet 34:358-365.
4. Buss PW (1994): Cleft hand/foot: Clinical and developmental aspects. J Med Genet 31:726-730.
5. Curry CJR, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S, Barr M, McGravey V, Dabiri C, Schimke N, Ives E, Hall BD (1987): Smith-Lemli-Optiz syndrome - type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent lethality. Am J Med Genet 26:45-57.
6. Johnson JA, Aughton DJ, Comstock CH, Von Oeyen PT, Higgins JV, Schulz R (1994): Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. Am J Med Genet 49:240-243.
7. Le Merrer M, Briard ML, Girard S, Mulliez N, Moraine C, Imbert MC (1988): Lethal acrodysgenital dwarfism: A severe lethal condition resembling Smith-Lemli-Opitz syndrome. J Med Genet 25:88-95.
8. McGaughran JM, Clayton PT, Mills KA, Rimmer S, Moore L, Donnai D (1995): Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Am J Med Genet 56:269-271.
9. Opitz JM (1994): RSH/SLO ("Smith-Lemli-Opitz") syndrome: Historical, genetic and developmental considerations. Am J Med Genet 50:344-346.
10. Opitz JM, De La Cruz F (1994): Cholesterol metabolism in RSH/Smith-Lemli-Opitz syndrome: Summary of an NICHD conference. Am J Med Genet 50:326-338.
11. Rossiter JP, Hofman KJ, Kelley RI (1995): Smith-Lemli-Opitz syndrome: Prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid. Am J Med Genet 56:272-275.
12. Rutledge JC, Friedman JM, Harrod MJE, Currarion G, Wright CG, Pinckney L, Chen H (1984): "New" lethal multiple congenital anomaly syndrome. Am J Med Genet 19:255-264.
13. Seller MJ, Russell J, Tint GS (1995): Unusual case of Smith-Lemli-Opitz syndrome "type II." Am J Med Genet 56:265-268.
14. Stewart FJ, Dornan JC (1995): Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Am J Med Genet 56:286-287.
15. Tada K, Yonenobu K, Swanson AB (1981): Congenital central ray deficiency in the hand - A survey of 59 cases and subclassification. J Hand Surg [Am] 6:434-441.
16. Wallace M, Zori RT, Alley T, Whidden E, Gray BA, Williams CA (1994): Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable disruption of an SLOS gene. Am J Med Genet 50:368-374.
17. Worthington S, Goldblatt J [1997]: Smith-Lemli-Opitz syndrome: Further delineation of the phenotype. Clin Dysmorphol 6:263-266.