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Craniocarpotarsal Dysplasia or Whistling Face Syndrome

Jaroslav Cervenka, MD, CSc; Robert J. Gorlin, DDS; Pavla Figalova, MS; Jana Farkasova, MD
Arch Otolaryngol. 1970;91(2):183-187. doi:10.1001/archotol.1970.00770040253016.
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FIRST described by Freeman and Sheldon1 in 1938 as craniocarpotarsal dystrophy, the concept of the "whistling face" syndrome was extended by Burian2,3 in 1962 and 1963 and by Weinstein and Gorlin4 in 1969, chiefly with regard to its clinical features. Their analysis of this syndrome revealed a characteristic facies with severe microstomia and flattened midface, causing the individual to appear as if whistling, deep-set eyes, coloboma-like alterations of nasal wings, kyphoscoliosis, talipes equinovarus, and ulnar deviation of fingers.

Aware that the clinical picture of our patients forms a distinct syndrome of diagnostic importance, we decided to reexamine the three incompletely reported cases described by Burian,2,3 largely to investigate the biochemical, genetic, and anthropometric aspects of this syndrome which have not been previously considered.

Report of Cases  Case 1.—A 13-year-old girl (Fig 1) had been treated at the Clinic of Plastic Surgery in Prague since she was

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