Cranial base abnormalities are an important complication of osteogenesis imperfecta (OI), a hereditary bone fragility disorder that in most patients is caused by mutations affecting collagen type I. To elucidate which clinical characteristics are associated with the occurrence of cranial base abnormalities in OI, we compared cephalometric results of 187 OI patients (median age 12.0 years, range 3.4 to 47 years; 96 female) with those of 191 healthy subjects and related findings to clinical descriptors of the disease. Overall, 41 patients (22%) had at least one unambiguously abnormal skull base measure. Multivariate logistic regression analysis in patients with OI types I, III, and IV (n ¼ 169) revealed that height Z-score [odds ratio (OR) ¼ 0.53, 95% confidence interval (CI) 0.43-0.66, p < .001]-but not age, gender, scleral hue, lumbar spine areal bone mineral density, or a history of bisphosphonate treatment-was a significant independent determinant of skull base abnormalities. Among patients with a height Z-score below -3, 48% had a skull base abnormality regardless of whether they had received bisphosphonate treatment in the first year of life or not. Genotype-phenotype correlations were evaluated in patients with detectable mutations in COL1A1 or COL1A2, the genes coding for collagen type I (n ¼ 140). Skull base abnormalities were present in 6% of patients with haploinsufficiency (frameshift or nonsense) mutations, in 43% of patients with helical glycine substitutions caused by COL1A1 mutations, in 32% of patients with helical glycine substitutions owing to COL1A2 mutations, and in 17% of patients with splice-site mutations affecting either COL1A1 or COL1A2. However, multivariate logistic regression analysis showed that height Z-score but not the type of collagen type I mutation was independently associated with the prevalence of skull base abnormalities. In conclusion, this study shows that clinical severity of OI, as expressed by the height Z-score, was the strongest predictor of skull base abnormalities. We did not find evidence for the hypothesis that bisphosphonate treatment protects against skull base abnormalities. ß
A 10-year-old male with acrania, distal limb anomalies, and abnormal arterial and venous cranial blood vessels is reported. Parental films and examination are normal. This case supports the hypothesis that acrania is a severe form of aplasia cutis congenita and is within the spectrum of Adams-Oliver syndrome. It is proposed that the diagnosis of acrania requires assessment of both parents and proband to assess other manifestations of vascular disruption in order to provide accurate genetic counselling.
Ganglioneuromas are rare, benign, well-differentiated, slow-growing tumors, composed of ganglion cells and Schwann cells. Ganglioneuromas are derived from the neural crest cells and can arise anywhere from the base of the skull to the pelvis. We present and discuss the clinicopathologic and radiographic features of two patients with ganglioneuroma arising from the sacrum, a rare anatomic location.
The Jansen type of metaphyseal dysplasia is a rare disorder with significant clinical and radiographic variability. Two cases of classical Jansen disease and one with some distinctive features suggestive of the Jansen variant are reported.
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