Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral head.
We report the case of a seven-year-old girl with peculiar facial traits who presented for right coxalgia of six weeks' duration. The phenotypic findings corresponded to a trichorhinophalangeal syndrome, type I, and the clinical, radiological and gammagraphic characteristics were indicative of avascular necrosis of the right femoral head, Legg-Perthes-Calvé disease.
Department of Pediatrics, University Hospital Germans Trias i Pujol Badalona, Spain.
I
I
Minguella
M
M
Ubierna
J
J
Escola
A
A
Roca
J
J
Prats
G
G
Pintos-Morell
D002648:Child; D005260:Female; D005271:Femur Head Necrosis / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000150:complications* / Q000175:diagnosis