Gripp K W, Scott C I, Hughes H E, Wallerstein R, Nicholson L, States L, Bason L D, Kaplan P, Zderic S A, Duhaime A C, Miller F, Magnusson M R, Zackai E H
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania 19104-4399, USA.
Am J Med Genet. 1997 Jun 13;70(3):229-39.
One female and two male patients with multiple lateral meningoceles are presented. They do not have neurofibromatosis or Marfan syndrome and share findings with the two previously described patients with multiple lateral meningoceles. The original report by Lehman et al. [1977: J Pediatr 90:49-54] was titled "familial osteosclerosis," because osteosclerosis was present in the proposita and her mother; the patient described by Philip et al. [1995: Clin Dysmorphol 4:347-351] also had increased bone density of the skull base and the sutures. Thickened calvaria were present in one of our patients; two had a prominent metopic suture. Other shared findings include multiple lateral meningoceles, Wormian bones, malar hypoplasia, downslanted palpebral fissures, a high narrow palate, and cryptorchidism in males. In addition, our patients showed ligamentous laxity, keloid formation, hypotonia, and developmental delay. A short umbilical cord was noted in two patients. One had a hypoplastic posterior arch of the atlas and an enlarged sella, as reported by Lehman et al. [1977]. Our patients appear to have the same syndrome as previously reported. We suggest it be called "lateral meningocele syndrome," because of this unique finding.
本文报告了1例女性和2例男性患有多发性外侧脑脊膜膨出的患者。他们没有神经纤维瘤病或马凡综合征，并且与之前描述的2例患有多发性外侧脑脊膜膨出的患者有共同的表现。Lehman等人[1977年：《儿科学杂志》90:49 - 54]的原始报告标题为“家族性骨硬化症”，因为先证者及其母亲存在骨硬化；Philip等人[1995年：《临床畸形学》4:347 - 351]描述的患者也有颅底和缝线处骨密度增加的情况。我们的1例患者存在颅骨增厚；2例有明显的额缝。其他共同表现包括多发性外侧脑脊膜膨出、缝间骨、颧骨发育不全、睑裂向下倾斜、高而窄的腭部以及男性隐睾。此外，我们的患者还表现出韧带松弛、瘢痕疙瘩形成、肌张力减退和发育迟缓。2例患者发现脐带短。1例患者有寰椎后弓发育不全和蝶鞍增大，如Lehman等人[1977年]所报告。我们的患者似乎与之前报告的是同一综合征。由于这一独特发现，我们建议将其称为“外侧脑脊膜膨出综合征”。
