PMID: 11343336May 9, 2001Paper

Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia

American Journal of Medical Genetics
K K ReynoldsR M Pauli

Abstract

Virtually all infants with achondroplasia exhibit variably severe hypotonia in infancy. This hypotonia contributes to delays in motor development and risks for sudden death. Some have proposed that this hypotonia is a direct result of impaired function of long tracts of the spinal cord, secondary to the intrinsic narrowing of the foramen magnum, which also is present in variable severity in all children with achondroplasia. We postulated that if foraminal constriction causes infantile hypotonia, then there should be a strongly positive correlation between foraminal size and severity of hypotonia. Therefore, clinical and computed tomographic data in 71 infants were retrospectively reviewed. We found no correlation. These results suggest that there is no direct relationship and foraminal size does not affect severity of hypotonia. Other potential explanations for this infantile hypotonia are considered.

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Citations

Apr 27, 2013·Surgical and Radiologic Anatomy : SRA·K NatsisP Skandalakis
Jan 17, 2007·Current Opinion in Pediatrics·Erin M CarterCathleen L Raggio
Jul 17, 2007·Lancet·William A HortonJacqueline T Hecht
Jan 15, 2011·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Gary D Richards, Rebecca S Jabbour
Jan 23, 2013·Journal of Paediatrics and Child Health·Penelope Jane IrelandLeanne M Johnston
Sep 9, 2016·The Journal of Craniofacial Surgery·Sibel CirpanAbdurrahman Orhan Magden
Jan 5, 2019·Orphanet Journal of Rare Diseases·Richard M Pauli

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