Keppen–Lubinsky syndrome

Keppen–Lubinsky syndrome
Other namesGeneralized lipodystrophy-progeroid features-severe intellectual disability syndrome
This condition is inherited in an autosomal dominant manner

Keppen–Lubinsky syndrome is an extremely rare congenital disorder. The minimal clinical criteria for the Keppen–Lubinsky syndrome are as follows: normal growth parameters at birth, postnatal growth failure, peculiar face with an aged appearance (large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth), skin tightly adherent to facial bones, generalized lipodystrophy, microcephaly, and development delay.[1][2][3] Keppen-Lubinsky syndrome is caused by mutation in the inwardly rectifying K+ channels encoded by KCNJ6 gene.[4]

References

  1. ^ Gorlin, Robert; Cohen, M. Michael; Hennekam, Raoul (2001). "Syndromes of the head and neck". Keppen–Lubinsky syndrome (4th ed.). New York, U.S.: Oxford University Press. p. 1179. ISBN 9780199747726.
  2. ^ De Brasi, D; Brunetti-Pierri, N; Di Micco, P; Andria, G; Sebastio, G (2003). "New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome?". American Journal of Medical Genetics. 117A (2): 194–5. doi:10.1002/ajmg.a.10936. PMID 12567423. S2CID 38839849.
  3. ^ Basel-Vanagaite, Lina; Shaffer, Lisa; Chitayat, David (2009). "Keppen-Lubinsky syndrome: Expanding the phenotype". American Journal of Medical Genetics. 149A (8): 1827–9. doi:10.1002/ajmg.a.32975. PMID 19610118. S2CID 24985487.
  4. ^ Masotti, Andrea; Uva, Paolo; Davis-Keppen, Laura; Basel-Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan (2015-02-05). "Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6". The American Journal of Human Genetics. 96 (2): 295–300. doi:10.1016/j.ajhg.2014.12.011. ISSN 0002-9297. PMC 4320262. PMID 25620207.
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