European Journal of Pediatrics

, Volume 126, Issue 4, pp 289–295 | Cite as

Congenital scalp defect with distal limb reduction anomalies

  • J. P. Fryns
  • L. Corbeel
  • H. Van den Berghe
Case Reports


Congenital scalp defects and distal limb reduction anomalies can occur as separate entities or in combination with other anomalies. They also occur together in an apparently autosomal dominant syndrome, an example of which is described in the present paper. The literature on the subject is reviewed.

Key words

Congenital scalp effect Limb anomalies 


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  1. Adams, F. H., Oliver, C. P.: Hereditary deformities in man. J. Hered. 36, 3–7 (1945)Google Scholar
  2. Beresford, O. D., Samman, P. D.: Congenital skin defect of the newborn. Arch. Dis. Childh. 23, 190–194 (1948)Google Scholar
  3. Burton, B. K., Hauser, L., Nadler, L. J.: Congenital scalp defects with distal limb anomalies. Report of a family. J. Med. Genet. 13, 466–468 (1976)Google Scholar
  4. Cutlip, A. W., Cryan, D. M., Vineyard, W. R.: Congenital scalp defects in mother and child. Amer. J. Dis. Child. 113, 597–599 (1967)Google Scholar
  5. Farmer, A. W., Maxmen, M. D.: Congenital absence of skin. Plast. reconstr. Surg. 25, 291–297 (1960)Google Scholar
  6. Feud, P., Rhodes, A. W., Weisz, A.: Hereditary skin defect in the newborn infant. J. Pediat. 27, 591–594 (1945)Google Scholar
  7. Garcin, R., Thurel, R., Rudanx, P.: Sur un cas isolé de dysostose craniofaciale (Maladie de Crouzon) avec ectrodactylie. Arch. Med. Enfants 36, 359–365 (1933)Google Scholar
  8. Gorlin, R. J., Pindborg, J. J.: Syndromes of head and neck, pp. 37–40. New York: Mc Graw-Hill 1964Google Scholar
  9. Hanhart, E.: Über die Kombination von Peromelie mit Mikrognathie, ein neues Syndrome beim Menschen, entsprechend der Akroteriasis congenita von Wriedt und Mohr beim Rinde. Arch. Julius-Klaus-Stiftg. 25, 531–540 (1950)Google Scholar
  10. Hodgman, J. E., Mathies, A. W., Levan, N. E.: Congenital scalp defects in twin sisters. Amer. J. Dis. Child. 110, 293–294 (1965)Google Scholar
  11. Jancar, J.: Ectrodactyly, spastic paraplegia and mental retardation. J. Ment. Defic. Res. 11, 207 (1967)Google Scholar
  12. Lees, D. H., Lawler, S. D., Renwick, J. H., Thoday, J. M.: Anonychia with ectrodactyly. Clinical and linkage study. Ann. Hum. Genet. 22, 69–79 (1957)Google Scholar
  13. Johnsonbaugh, R. E., Light, I. J., Sutherland, J. M.: Congenital scalp defects in father and son. Amer. J. Dis. Child. 110, 297–298 (1965)Google Scholar
  14. Kahn, E. A., Olmedo, L.: Congenital defect of the scalp. Plast. reconstr. Surg. 6, 435–439 (1950)Google Scholar
  15. Kehrer, E.: Congenital defects of the head produced by amniotic adhesions. Monatschr. Gynäk. 31, 183 (1910)Google Scholar
  16. Lynch, D. J., Kahn, E. A.: Congenital defects of the scalp. A surgical approach to aplasia cutis congenita. J. Neurosurg. 33, 198–202 (1970)Google Scholar
  17. Mac Arthur, J. W., Mc Cullogh, E.: Apical dystrophy, an inherited defect of hands and feet. Hum. Biol. 4, 179 (1932)Google Scholar
  18. Miller, J. Q., Pickard, E. H., Alkan, M. K., et al.: A specific congenital brain defect (archinencephaly) in 13–15 trisomy. New Engl. J. Med. 268, 120 (1963)Google Scholar
  19. Nisenson, A., Isaacson, A., Grant, S.: Mashlike facies with associated congenital anomalies. J. Pediat. 46, 255 (1955)Google Scholar
  20. Pap, G. S.: Congenital defect of scalp and skull in three generations of one family: case report. Plast. reconstr. Surg. 46, 194–196 (1970)Google Scholar
  21. Pers, M.: Congenital absence of skin: pathogenesis and relation to ring-constrictions. Acta Chir. Scand. 126, 388 (1963)Google Scholar
  22. Tisserand-Perier, M.: Transmission pendant plusieurs generations d'une aplasie cutanée circonscrite du vertex. Bull. Soc. Fr. Dermatol. Syph. 60, 77–78 (1953)Google Scholar
  23. Scribanu, N., Temtamy, S. A.: The syndrome of aplasia cutis congenita with terminal transverse defects of the limbs. J. Pediat. 87, 79–82 (1975)Google Scholar
  24. Van Reuss, A. R.: Diseases of the Newborn, p. 384. New York: William Wood 1921Google Scholar
  25. Walker, J. C., Koenig, J. A., Irwin, L., Meijer, R.: Congenital absence of skin. Plast. reconstr. Surg. 26, 209–218 (1960)Google Scholar
  26. Warkany, J.: Congenital malformations. Notes and Comments, pp. 974–975. Year Book Medical Publishers 1971Google Scholar
  27. Wilson, R. A., Kliman, M. R., Hardyment, A. F.: Ankyloglossia superior (palatoglossal adhesion in newborn infant). Pediatrics 31, 1051–1054 (1963)Google Scholar

Copyright information

© Springer-Verlag 1977

Authors and Affiliations

  • J. P. Fryns
    • 1
  • L. Corbeel
    • 1
  • H. Van den Berghe
    • 1
  1. 1.Division of Human GeneticsDepartment of Human BiologyLeuvenBelgique

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