The Camera-Marugo-Cohen syndrome: report of two new patients.
This report describes two unrelated patients with obesity, mental retardation, body asymmetry, and muscle weakness. Several obesity syndromes with common characteristics have been described. Findings in our patients, in addition to those of the previously reported cases, include body asymmetry, characteristic physiognomy, lordosis, and typical anomalies of hands and feet. These physical manifestations correspond to the Camera-Marugo-Cohen syndrome. Our patients represent the second and third cases of this condition.
Lambert
D M
DM
F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Department of Pediatrics, Montreal Children's Hospital, Québec, Canada.
Watters
G
G
Andermann
F
F
Der Kaloustian
V M
VM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006728:Hormones / Q000097:blood; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008141:Lordosis / Q000235:genetics; D008297:Male; D009765:Obesity / Q000235:genetics*; D013577:Syndrome
D006728:Hormones