The whistling face syndrome, or craniocarpotarsal dysplasia. Report of two cases in a father and son and review of the literature.
Two cases of "whistling face syndrome" with the typical manifestations in the face, hands, and feet in a father and son are presented. From studying them over a 3-year period and from reviewing 46 reported cases, we conclude that (a) hand and foot deformities do not improve spontaneously with growth and better results are achieved by early surgery, (b) decreased intermaxillary distance contributed more than intercommissural distance to feeding and anesthetic difficulties in our patients, and (c) thickened and contracted joint capsules and myopathic changes are thought to form the basic pathology in this syndrome.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005528:Foot / Q000601:surgery; D005532:Foot Deformities, Congenital; D006225:Hand / Q000601:surgery; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome