Scott Abbey A, Hodge Katelyn D, Torres-Martinez Wilfredo, Dlouhy Stephen R, Smith Jodi L, Weaver David D
aDepartment of Medical and Molecular Genetics bDivision of Pediatric Neurosurgery, Goodman Campbell Brain and Spine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Clin Dysmorphol. 2017 Oct;26(4):252-255. doi: 10.1097/MCD.0000000000000196.
In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. The etiology of SP remains unclear, and yet, these defects can be present at birth, develop spontaneously later, or evolve following head trauma. Here, we report on a 2-year-old male with achondroplasia, SP, and craniocervical junction stenosis. The latter two defects required surgical correction. SP is an underappreciated malformation that we propose may be induced by increased intracranial pressure. This case appears to be the first report of this condition in achondroplasia.
在畸形学领域，软骨发育不全是一种广为人知的病症。然而，颅骨膜窦（SP）却并非如此。后一种情况是一种罕见的血管畸形，其特征是颅内和颅外静脉引流途径之间存在异常连接。SP的病因尚不清楚，不过，这些缺陷可在出生时就存在，随后自发出现，或在头部外伤后演变。在此，我们报告一名患有软骨发育不全、SP和颅颈交界狭窄的2岁男性。后两种缺陷需要手术矫正。SP是一种未得到充分认识的畸形，我们认为它可能由颅内压升高引起。该病例似乎是软骨发育不全患者中这种情况的首例报告。
