A chromosomal abnormality should be suspected in every patient with multiple congenital anomalies.
It is important to determine the specific type in order to provide the parents with a prognosis and proper genetic counseling.
In patients with multiple congenital anomalies who have scalp defects, the most likely diagnosis is Trisomy 13.
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References
1.
Patau, K., Smith, D.W., Therman, E., Inhorn, S.L. and Wagner, H.P.: Multiple congenital anomaly caused by an extra autosome. Lancet1: 790, 1966.
2.
Sabatini, R. , Vaillaud, J.C., Dutruge, J., Laurent, C. and Sarrouy, C.: Un signe d'orientation dans les diagnostic de trisomie 13; l'aplasie cutanee du vertex. Ann. Pediat. (Paris) 436, 1966.
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Taylor, A.I. : Autosomal trisomy syndromes; a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J. Med. Genet.5: 227, 1968.
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Kahn, Cl. : Les trisomies 13-15 et 16-18. Nancy, Thèse, 1965.
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Hodgman, J.E. , Mathies, A.W. and Levan, N.E.: Congenital scalp defects in twin sisters . Amer. J. Dis. Child.110: 293, 1965.
6.
Sutlip, B.D. , Cryan, D.M. and Vineyard, W.R.: Congenital scalp defects in mother and child. Ibid.113: 597, 1967.
