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Majeed syndrome

MIM.609628 18p

Tuesday 3 July 2007

Synopsis

- syndrome of chronic recurrent multifocal osteomyelitis
- congenital dyserythropoietic anaemia

Etiology

- LPIN2 germline mutations

References

- Ferguson, P. J.; Chen, S.; Tayeh, M. K.; Ochoa, L.; Leal, S. M.; Pelet, A.; Munnich, A.; Lyonnet, S.; Majeed, H. A.; El-Shanti, H. : Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J. Med. Genet. 42: 551-557, 2005. PubMed ID : 15994876

- Majeed, H. A.; Al-Tarawna, M.; El-Shanti, H.; Kamel, B.; Al-Khalaileh, F. : The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia: report of a new family and a review. Europ. J. Pediat. 160: 705-710, 2001. PubMed ID : 11795677

- Majeed, H. A.; El-Shanti, H.; Al-Rimawa, H.; Al-Masri, N. : On mice and men: an autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. (Letter) J. Pediat. 137: 441-442, 2000. PubMed ID : 10969284

- Majeed, H. A.; Kalaawi, M.; Mohanty, D.; Teebi, A. S.; Tunjekar, M. F.; Al-Gharbawy, F.; Majeed, S. A.; Al-Gazzar, A. H. : Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J. Pediat. 115: 730-734, 1989. PubMed ID : 2809904