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Clinical Pediatrics
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Osteopathia Striata Syndrome

Clinical, Genetic and Radiologic Considerations

Harold N. Bass

Department of Pediatrics (Genetics), Kaiser-Permanente Medical Center, Panorama City, California

Jay R. Weiner

Department of Surgery (Oral Surgery), Kaiser-Permanente Medical Center, Panorama City, California

Alan Goldman

Department of Surgery (Oral Surgery), Kaiser-Permanente Medical Center, Panorama City, California

Lorraine E. Smith

Division of Pediatric Radiology, University of California School of Medicine at Davis

Robert S. Sparkes

Division of Medical Genetics, UCLA Center for the Health Sciences, Los Angeles, California

Barbara F. Crandall

Division of Medical Genetics, UCLA Center for the Health Sciences, Los Angeles, California

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 hear ing 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. Be cause the disorder may resemble several other conditions, the differential diagnosis should include osteopoikilosis, the autosomal dominant form of osteopetrosis, and hyperostosis corticalis generalisata.

Clinical Pediatrics, Vol. 19, No. 5, 369-373 (1980)
DOI: 10.1177/000992288001900512
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