Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome.
Keutel syndrome (KS) is a rare, autosomal recessive condition characterized by diffuse cartilaginous calcification, nasal hypoplasia, brachytelephalangy, and peripheral pulmonary stenosis. A review of the literature produced only 15 reported patients, of whom plain radiographs of the hand or a detailed report are available for review in ten. A distinctive pattern of broadening and shortening of the first through fourth distal phalanges, with sparing of the fifth distal phalanx, is seen in seven of these patients. Two additional patients with Keutel syndrome and this identical finding are presented. I suggest that this pattern of brachytelephalangy is sensitive and highly suggestive of the diagnosis of Keutel syndrome.
Miller
Stephen F
SF
Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. stephen.miller@sickkids.ca
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D002114:Calcinosis / Q000150:complications / Q000175:diagnosis; D002357:Cartilage Diseases / Q000150:complications / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000150:complications / Q000175:diagnosis; D011859:Radiography; D012680:Sensitivity and Specificity; D013577:Syndrome