OBJECTIVE: The purpose of this paper is to report on radiographic features of the cranial vault abnormalities frequently seen but not yet described in detail in patients with Klinefelter syndrome.
SUBJECTS: Our studies comprised 72 patients with Klinefelter syndrome and 47,XXY karyotype. The majority of the patients were young between the ages of 16 to 28 years.
METHODS: Plain skull radiographs were taken in the frontal and lateral projections.
RESULTS: Several abnormalities were observed on skull radiographs of the Klinefelter patients. The most frequent was a premature fusion of the coronal sutures that occurred in 54 of 62 younger patients. In 42 cases extensive calcifications of these sutures were observed. The calcified sutures were dense and widened. In 24 patients the inner table in the anterior part or the parietal bone displayed a marked disruption with thinning of the calvaria at this place. In the posterior part of the parietal bone in 21 patients the inner table was thickened and excessively dense. On frontal radiographs, in 30 patients, there was a flattening of the squamous part of the temporal bones.
CONCLUSIONS: Skull radiographs in Klinefelter patients frequently display abnormalities: premature fusion and excessive calcifications of the coronal sutures, irregularities of the inner table of the parietal bone, and flattening of the temporal bones. These radiographic features, when present, may draw attention to the XXY syndrome as the underlying cause of the abnormalities.