Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1990 Mar;27(3):180–187. doi: 10.1136/jmg.27.3.180

Focal dermal hypoplasia (Goltz syndrome).

I K Temple 1, P MacDowall 1, M Baraitser 1, D J Atherton 1
PMCID: PMC1017001  PMID: 2325092

Full text

PDF
181

Images in this article

181Image
on p.181
181Image
on p.181
182Image
on p.182
182Image
on p.182
182Image
on p.182
183Image
on p.183
183Image
on p.183
184Image
on p.184
184Image
on p.184
185Image
on p.185
185Image
on p.185

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Atherton D. J., Hall M. Focal dermal hypoplasia syndrome. Clin Exp Dermatol. 1980 Jun;5(2):249–252. doi: 10.1111/j.1365-2230.1980.tb01696.x. [DOI] [PubMed] [Google Scholar]
  2. Aymé S., Fraser F. C. Possible examples of the goltz syndrome (focal dermal hypoplasia) without linear areas of skin hypoplasia. Birth Defects Orig Artic Ser. 1982;18(3B):59–65. [PubMed] [Google Scholar]
  3. Brinson R. R., Schuman B. M., Mills L. R., Thigpen S., Freedman S. Multiple squamous papillomas of the esophagus associated with Goltz syndrome. Am J Gastroenterol. 1987 Nov;82(11):1177–1179. [PubMed] [Google Scholar]
  4. Burgdorf W. H., Dick G. F., Soderberg M. D., Goltz R. W. Focal dermal hypoplasia in a father and daughter. J Am Acad Dermatol. 1981 Mar;4(3):273–277. doi: 10.1016/s0190-9622(81)70027-6. [DOI] [PubMed] [Google Scholar]
  5. Fryns J. P., Dhondt F., Lindemans L., Van den Berghe H. Focal dermal hypoplasia (Goltz syndrome) in a male. Acta Paediatr Belg. 1978 Jan-Mar;31(1):37–39. [PubMed] [Google Scholar]
  6. GORLIN R. J., MESKIN L. H., PETERSON W. C., Jr, GOLTZ R. W. FOCAL DERMAL HYPOPLASIA SYNDROME. Acta Derm Venereol. 1963;43:421–440. [PubMed] [Google Scholar]
  7. Goltz R. W., Henderson R. R., Hitch J. M., Ott J. E. Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. Arch Dermatol. 1970 Jan;101(1):1–11. doi: 10.1001/archderm.101.1.1. [DOI] [PubMed] [Google Scholar]
  8. Hall E. H., Terezhalmy G. T. Focal dermal hypoplasia syndrome. Case report and literature review. J Am Acad Dermatol. 1983 Sep;9(3):443–451. doi: 10.1016/s0190-9622(83)70157-x. [DOI] [PubMed] [Google Scholar]
  9. Happle R., Lenz W. Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism? Br J Dermatol. 1977 Feb;96(2):133–135. doi: 10.1111/j.1365-2133.1977.tb12534.x. [DOI] [PubMed] [Google Scholar]
  10. Jackson R. The lines of Blaschko: a review and reconsideration: Observations of the cause of certain unusual linear conditions of the skin. Br J Dermatol. 1976 Oct;95(4):349–360. doi: 10.1111/j.1365-2133.1976.tb00835.x. [DOI] [PubMed] [Google Scholar]
  11. Ruiz-Maldonado R., Carnevale A., Tamayo L., Milonas de Montiel M. Focal dermal hypoplasia. Clin Genet. 1974;6(1):36–45. doi: 10.1111/j.1399-0004.1974.tb00628.x. [DOI] [PubMed] [Google Scholar]
  12. Temple I. K., Hurst J. A., Hing S., Butler L., Baraitser M. De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. J Med Genet. 1990 Jan;27(1):56–58. doi: 10.1136/jmg.27.1.56. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Tsuji T. Focal dermal hypoplasia syndrome. An electron microscopical study of the skin lesions. J Cutan Pathol. 1982 Aug;9(4):271–281. doi: 10.1111/j.1600-0560.1982.tb01063.x. [DOI] [PubMed] [Google Scholar]
  14. Uitto J., Bauer E. A., Santa-Cruz D. J., Loewinger R. J., Eisen A. Z. Focal dermal hypoplasia: abnormal growth characteristics of skin fibroblasts in culture. J Invest Dermatol. 1980 Aug;75(2):170–175. doi: 10.1111/1523-1747.ep12522586. [DOI] [PubMed] [Google Scholar]
  15. Ureles S. D., Needleman H. L. Focal dermal hypoplasia syndrome (Goltz syndrome): the first dental case report. Pediatr Dent. 1986 Sep;8(3):239–244. [PubMed] [Google Scholar]
  16. WODNIANSKY P. Uber die Formen der congenitalen Poikilodermie. Arch Klin Exp Dermatol. 1957;205(4):331–342. [PubMed] [Google Scholar]
  17. Warburg M. Focal dermal hypoplasia. Ocular and general manifestations with a survey of the literature. Acta Ophthalmol (Copenh) 1970;48(3):525–536. doi: 10.1111/j.1755-3768.1970.tb03754.x. [DOI] [PubMed] [Google Scholar]
  18. Wechsler M. A., Papa C. M., Haberman F., Marion R. W. Variable expression in focal dermal hypoplasia. An example of differential X-chromosome inactivation. Am J Dis Child. 1988 Mar;142(3):297–300. doi: 10.1001/archpedi.1988.02150030067022. [DOI] [PubMed] [Google Scholar]
  19. Wettke-Schäfer R., Kantner G. X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet. 1983;64(1):1–23. doi: 10.1007/BF00289472. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES