Phenotypic Variability in Majeed Syndrome

Majeed syndrome with phenotypic variability. (A) Pedigree. Affected IV1 (proband) and IV4 (cousin) are in solid black. (B) Tc99 bone scan (proband = IV1) shows increased uptake in the knees, ankles, and the right calcaneus in the proband. His cousin (IV4) shows symmetric uptake in the epiphyses of the long bones of the lower extremities. (C) Magnetic resonance imaging shows increased signal intensity in the tibial metaphyses in the proband. (D) Sequencing on IV1 and IV2 show homozygous c.2241_2243delinsGG LPIN2 mutation.