Craniovertebral junction stenosis in Lenz–Majewski syndrome
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We report a girl with Lenz-Majewski syndrome associated with craniovertebral junction stenosis that led to communicating hydrocephalus and cervical myelopathy. The life-threatening complication was related to progressive craniovertebral hyperostosis that rapidly exacerbated during early childhood. Despite initial success of surgical intervention at 2 years of age, she developed apneic spells and died suddenly at age 5 years. Close monitoring for craniovertebral junction stenosis is essential to reduce morbidity and mortality in children with Lenz-Majewski syndrome.
KeywordsLenz-Majewski syndrome Craniovertebral junction stenosis Hyperostosis Child Computed tomography Magnetic resonance imaging Radiography Skeletal dysplasia
We thank Dr. Julian Tang of the Department of Education for Clinical Research, National Center for Child Health and Development, for editing this manuscript.
Conflicts of interest
- 1.Lenz W, Majewski F (1974) A generalized disorder of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphysial hypostosis. Birth Defects Orig Arctic Ser 10:133–136Google Scholar