Atlantoaxial instability associated with ALDH18A1 mutation
Alexandra T. Lucas,
Angela E. Lin,
Andrew Cohen
et al.
Abstract:We report a 10‐year‐old boy with a de novo pathogenic variant in ALDH18A1, a rare form of metabolic cutis laxa, which was complicated by atlantoaxial instability and spinal cord compression following a fall from standing height. The patient required emergent cervical spine fusion and decompression followed by a 2‐month hospitalization and rehabilitation. In addition to the core clinical features of joint and skin laxity, hypotonia, and developmental delays, we expand the connective tissue phenotype by adding a… Show more
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