Bass H N, Weiner J R, Goldman A, Smith L E, Sparkes R S, Crandall B F
Clin Pediatr (Phila). 1980 May;19(5):369-73. doi: 10.1177/000992288001900512.
Osteopathia striata, an autosomal dominant disorder, has been diagnosed in a 19-year-old mildly retarded woman. In addition, she has macrocephaly, a leonine facies, disfigurement of the lower jaw, a cleft palate and mixed hearing loss. Roentgenograms of the skull and long bones show thickening of the calvarium, particularly at the base, mandibular hyperplasia, and striations in the long bones and pelvis. Except for the cleft palate, which has not been previously reported, and the retardation, which appears to be quite uncommon in this condition, these findings are characteristic of osteopathia striata. Because the disorder may resemble several other conditions, the differential diagnosis should include osteopoikilosis, the autosomal dominant form of osteopetrosis, and hyperostosis corticalis generalisata.
条纹状骨病是一种常染色体显性疾病，已在一名19岁轻度智力发育迟缓的女性中确诊。此外，她还患有巨头症、狮面、下颌骨畸形、腭裂和混合性听力损失。颅骨和长骨的X线片显示颅骨增厚，尤其是在底部，下颌骨增生，长骨和骨盆有条纹。除了此前未报道过的腭裂以及在这种疾病中似乎相当罕见的智力发育迟缓外，这些表现是条纹状骨病的特征。由于该疾病可能与其他几种疾病相似，鉴别诊断应包括骨斑点症、常染色体显性形式的骨质石化症和全身性皮质增生症。
