- Keppen-Lubinsky Syndrome
Keppen-Lubinsky syndrome is an extremely rare congenital disease.
The minimal clinical criteria for the Keppen-Lubinsky Syndrome are as follows: normal growth parameters at birth,
postnatal growth failure, peculiar facial appearance with skin tightly adherent to facial bones, generalizedlipodystrophy and development delay.References
* Gorlin RJ, Cohen MM, Hennekam RCM. 2001. Keppen-Lubinsky syndrome. In: Gorlin RJ, Cohen MM, Hennekam RCM, editors. Syndromes of the head and neck, 4th ed. New York: Oxford University Press. p 1179.
* De Brasi D, Brunetti-Pierri N, Di Micco P, Andria G, Sebastio G. New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome?. Am J Med Genet A. 117A, 2, 194-5. 2003. doi:10.1002/ajmg.a.10936. PMID 12567423.External links
* [http://www.danielefiorenza.com/en/diagnosi/ Diagnosis of a child affected by Keppen-Lubinsky syndrome]
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