Meseguer P, Castro-Gago M, Suárez-Camino J, Alvarez-Moreno A, Alonso-Martín A, Eirís-Puñal J
Departamento de Pediatría, Hospital General de Galicia, Complejo Hospitalario Universitario de Santiago, España.
Rev Neurol. 1997 Oct;25(146):1579-82.
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.
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.
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.
条纹状骨病伴颅骨硬化症（OS-CS）是一种具有常染色体显性遗传的特殊且罕见的骨发育异常。影像学特征典型：线状条纹，尤其是长骨，且主要是颅底密度增加。面部特征也很典型，有额部突出、眼距增宽、内眦赘皮以及宽阔且凹陷的鼻梁。巨头畸形通常在出生时就存在，可能是最初的表现，且病程平稳。
本文报告了两名患有OS-CS和巨头畸形的女孩，年龄分别为3岁5个月和5岁4个月。她们从新生儿期就因巨头畸形且无复杂合并症以及特殊面部外观而接受评估。3岁时，放射学检查显示长骨有线状条纹以及颅底硬化。她们发育正常，未检测到相关缺陷。父母的X线片正常。
我们得出结论，对于无并发症的巨头畸形婴儿，特别是面部外观明显的婴儿，在鉴别诊断时应考虑OS-CS。
