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Case Reports
. 2016 Jun;43(6):1258-9.
doi: 10.3899/jrheum.151193.

Phenotypic Variability in Majeed Syndrome

Anand Prahalad Rao  1 , Dharmanand Balebail Gopalakrishna  1 , Xinyu Bing  2 , Polly J Ferguson  3
Affiliations
Case Reports

Phenotypic Variability in Majeed Syndrome

Anand Prahalad Rao et al. J Rheumatol. 2016 Jun.
No abstract available

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Conflict of interest statement

Conflict of Interest: The authors have no conflicts of interest to disclose.

Figures

Figure
Figure
Majeed Syndrome with phenotypic variability: A) Pedigree. Affected IV.1 (proband) and IV.4 (cousin) are in solid black; B) Tc99 bone scan (proband – IV.1) shows increased uptake in the knees, ankles and the right calcaneus in the proband; his cousin IV.4 shows symmetric uptake in the epiphyses of the long bones of the lower extremities C) MRI shows increased signal intensity in the tibial metaphyses in the proband, D) Sequencing on IV.1 and IV.2 show homozygous c.2241_2243delinsGG LPIN2 mutation.
See this image and copyright information in PMC

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References

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