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2004, Number 3

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Rev Hosp Jua Mex 2004; 71 (3)

Síndrome de Adams-Oliver. Reporte de un caso

Luján IJ, Ibarra GA, Méndez VF, López CG, Vargas HVM, Ayala RA

Language: Spanish
References: 11
Page: 124-127
PDF size: 896.59 Kb.


ABSTRACT

We report the case of a couple who seeks genetic counseling, presenting a history of two complicated pregnancies with Adams- Oliver Syndrome. The father presents the same congenital defects, with no relevant family history, which apparently implies a de novo mutation. The reproductive implication for the couple was analyzed based on the inheritance pattern and reproductive options of gamete donation and adoption and the risk of having a new pregnancy.


REFERENCES

  1. Adams FH, Oliver CP. Hereditary deformities in man due to arrested development. J Hered 1945; 36: 3-7.

  2. Fryns JP. Congenital scalp defects with distal limb reduction anomalies. J Med Genet 1987; 24: 493-6.

  3. Bamforth JS, Kaurah P, Byrne J, Ferreira P. Adams Oliver syndrome: a family with extreme variability and clinical expression. Am J Med Genet 1994; 49: 393-6.

  4. McMurray BR, Martin LW, Dignan PS, Fogelson MH. Hereditary aplasia cutis congenital and associated defects: three instances in one family and a survey of reported cases. Clin Pediat 1997; 16: 610-14.

  5. Toriello HV, Graff RG, Florentine MF, Lacina S, Moore WD. Scalp and limb defects with cutis marmorata telangiectatic congenital: Adams-Oliver Syndrome? Am J Med Genet 1988; 29: 269-76.

  6. Keymolen K, De Smet L, Bracke P, Fryns JP. The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common path genetic mechanism. Genet Counsel 1999; 10: 295-300.

  7. Whitley CB, Gorlin RJ. Adams-Oliver syndrome revisited. Am J Med Genet 1991; 40: 319-26.

  8. Jaeggi E, Kind C, Morger R. Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases. Europ J Pediat 1990; 149: 565-6.

  9. Kuster W, Lenz W, Kaariainen H, Majewski F. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Am J Med Genet 1988; 31: 99-115.

  10. Reece Hobbins. Medicine of the fetus and mother. Philadelphia, Pennsylvania: JB Lippincott Company; 1992, p. 606.

  11. 11 Fryns JP. Congenital scalp defects with distal limb reduction anomalies. J Med Genet 1987; 24: 493-6.




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