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- W2415933229 abstract "To the Editor: Majeed syndrome (OMIM #609628) is a syndromic form of chronic recurrent multifocal osteomyelitis (CRMO) that presents with early onset, severe CRMO, and a microcytic dyserythropoietic anemia of variable severity. Onset in all reported cases has been in the first 2 years of life1,2,3. A minority of patients develop a neutrophilic dermatosis. The disease is due to mutations in LPIN2 , which encodes LIPIN2, a phosphatidate phosphatase important in lipid metabolism2,3,4,5,6. Here we present the case histories of 2 male cousins of Indian heritage with Majeed syndrome. Both born to parents with consanguineous marriages, the proband presented with typical Majeed syndrome (onset of CRMO by 2 yrs of age, significant microcytic dyserythropoietic anemia, and failure to thrive), but the cousin had later onset, milder disease more reminiscent of nonsyndromic CRMO (onset at 8 yrs of age and minimal anemia). Both were found to be homozygous for the same novel LPIN2 mutation. Our report details the natural history of the disease in these 2 boys, expands the at-risk ethnic and racial group of Majeed syndrome, and demonstrates that the disease can present … Address correspondence to Dr. P.J. Ferguson, Department of Pediatrics, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, Iowa 52242, USA. E-mail: polly-ferguson{at}uiowa.edu" @default.
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- W2415933229 date "2016-06-01" @default.
- W2415933229 modified "2023-10-17" @default.
- W2415933229 title "Phenotypic Variability in Majeed Syndrome" @default.
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- W2415933229 doi "https://doi.org/10.3899/jrheum.151193" @default.
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