title: Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia.
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.
authors.affiliation: Department of Medical Genetics, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA.
authors.forename: K K
authors.initials: KK
authors.lastname: Reynolds
authors.forename: P
authors.initials: P
authors.lastname: Modaff
authors.forename: R M
authors.initials: RM
authors.lastname: Pauli
mesh_terms: D000130:Achondroplasia / Q000150:complications / Q000473:pathology*; D005260:Female; D005539:Foramen Magnum / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital / Q000209:etiology / Q000503:physiopathology*; D010985:Platybasia; D012189:Retrospective Studies; D013116:Spinal Cord / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D014057:Tomography, X-Ray Computed