Torticollis in an infant caused by hereditary muscle aplasia.
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.
Adams
Samuel B
SB
Division of Orthopaedics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-4399, USA.
Flynn
John M
JM
Hosalkar
Harish S
HS
Hunter
Jill
J
Finkel
Richard
R
Halsikar
Harish
H
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*
D002772:Cholera Toxin