Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Jackson-Weiss syndrome registered in four successive generations

The facies of Crouzon's syndrome with foot abnormalities


A family with 15 individuals in four successive generations affected by Jackson-Weiss syndrome, craniosynostosis with Crouzon-variant-like phenotype and feet's abnormalities, is presented. An autosomal dominant inheritance pattern with complete penetrance, variable expressivity, and wide intrafamilial variation, more among, less within the same generation, was observed. Concerning the frequency and severity of complications, the evolution of craniofacial deformities seems to parallel those described with Crouzon syndrome, suggesting the similar evaluation and management.

This is a preview of subscription content, log in to check access.


  1. 1.

    Geeraets WJ. Ocular syndromes. Philadelphia: Lea & Febiger, 1976: 125.

  2. 2.

    Kushner J, Alexander E, Davis CH, Kelly DL, Kushner AH. Crouzon's disease: Modern diagnosis and treatment. J. Neurosurg 1972; 37: 434–41.

  3. 3.

    Jones KL. Smith's recognizable patterns of human malformations. Philadelphia: WB Saunders, 1988: 364–77.

  4. 4.

    Jackson CE, Weiss L, Reynolds WA, Forman TF, Peterson JA. Craniosynostosis, midfacial hypoplasia and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred. J Pediatr 1976; 88: 963–68.

  5. 5.

    Cohen MM Jr. Syndromes with craniosynostosis. In: Cohen MM Jr, Craniosynostosis: Diagnosis, evaluation and management. New York: Raven Press, 1986: 413–590.

  6. 6.

    Van der Meulen JC, Mazzola R, Stricker M, Raphael B. Classification of craniofacial malformations. In: Stricker M, Van der Meulen JC, Raphael B, Mazzola R, eds. Craniofacial malformations. Edinburgh: Churchill Livingstone, 1990: 258–66.

  7. 7.

    Navarrete C, Pena R, Penaloza R, Salamanca F. Germinal mosaicism in Crouzon syndrome: A family with three affected siblings of normal parents. Clin Genet 1991; 40: 29–34.

  8. 8.

    Fried PD, Katowitz JA. Congenital craniofacial anomalies of ophthalmic importance. Surv Ophthalmol 1990; 35(2): 87–119.

  9. 9.

    Hertle RW, Quinn GE, Minguini N, Katowitz JA. Visuall loss in patients with craniofacial synostosis. J Pediatr Ophthalmol Strabismus 1991; 28(6): 344–9.

  10. 10.

    Menashe Y, Ben Baruch G, Rabinovitch O, Shalev Y, Katzenison MB, Shalev E. Exophthalmos- prenatal ultrasonic features for diagnosis of Crouzon syndrome. Prenat Diagn 1989; 9: 805–8.

  11. 11.

    Leo MV, Suslak L, Ganesh VL, Adhate A, Apuzzio JJ. Crouzon syndrome: Prenatal ultrasound diagnosis by binocular diameters. Obstet Gynecol 1991; 78: 906–8.

Download references

Author information

Correspondence to Branislav Stanković.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Stanković, B., Krstić, V., Stankov, B. et al. Jackson-Weiss syndrome registered in four successive generations. Doc Ophthalmol 85, 281–286 (1994).

Download citation

Key words

  • Craniosynostosis
  • Foot abnormalities