Human pathology

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familial lipomyelomeningocele

Lipomyelomeningocele is a form of spina bifida occulta with a distinct pathogenesis that differentiates it from open neural tube defects (open NTDs). Familial forms are rare and the condition may be polygenic, with possible autosomal recessive pattern of inheritance.

References

- Kannu P, Furneaux C, Aftimos S. Familial lipomyelomeningocele: a further report. Am J Med Genet A. 2005 Jan 1;132(1):90-2. PMID: 15551328