Introduction: Osteopathia striata with cranial sclerosis (OS-CS) is a specific and rare bone dysplasia, with autosomal dominant inheritance. Radiographic features are typical: linear striations, particularly of long bones, and increased density mostly of the cranial basis. Facial impression is also typical, with frontal bossing, hypertelorism, epicanthic folds and both broad and depressed nasal bridge. Macrocephaly, usually present at birth, is likely to be the initial manifestation and has an uneventful course.
Clinical cases: Two girls, aged 3 years-5 months and 5 years-4 months with OS-CS and macrocephaly are reported here. They were evaluated from neonatal period for macrocephaly not complicated associated with peculiar facial appearance. At age of 3 years, radiologic examination showed linear striations of the long bones and sclerosis of the skull base. Their development were normal and no related deficiency was detected. Parents roentgenographs were normal.
Conclusion: We conclude that OS-CS should be considered in the differential diagnosis in infants with macrocephaly without complications, specially if the facial appearance is striking.