title: Torticollis in an infant caused by hereditary muscle aplasia.
abstract: Torticollis is a common condition presenting to the general or pediatric orthopedist. We describe the case of a child with severe torticollis caused by a hereditary unilateral absence of the sternocleidomastoid and trapezius muscles. Both his father and paternal grandfather had a forme fruste, with similar but milder findings. Electromyography and cross-sectional imaging were valuable in making the diagnosis. We believe this is the first reported case of hereditary unilateral muscle aplasia presenting as torticollis in an infant.
authors.affiliation: Division of Orthopaedics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-4399, USA.
authors.forename: Samuel B
authors.initials: SB
authors.lastname: Adams
authors.forename: John M
authors.initials: JM
authors.lastname: Flynn
authors.forename: Harish S
authors.initials: HS
authors.lastname: Hosalkar
authors.forename: Jill
authors.initials: J
authors.lastname: Hunter
authors.forename: Richard
authors.initials: R
authors.lastname: Finkel
authors.forename: Harish
authors.initials: H
authors.lastname: Halsikar
mesh_terms: D002772:Cholera Toxin; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000002:abnormalities* / Q000000981:diagnostic imaging; D009139:Musculoskeletal Abnormalities / Q000235:genetics; D009334:Neck Muscles / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D014103:Torticollis / Q000209:etiology*
chemical_list: D002772:Cholera Toxin