Carranza-Romero Carmen, Armario-Hita José C, Fernandez-Vozmediano José M
University Hospital of Puerto Real, University of Cádiz, Cádiz, Spain.
Pediatr Dermatol. 2012 Jul-Aug;29(4):490-4. doi: 10.1111/j.1525-1470.2011.01526.x. Epub 2011 Sep 9.
Frontonasal dysplasia (FND) is a rare syndrome characterized by malformations of the central portion of the face, especially of the forehead, nose, and philtrum. FND is associated with hypertelorism, a hidden encephalocele, and a cleft of the nose. Occasionally, affected individuals also experience abnormalities of the brain and craniofacial bones. In such cases, a frontal lipoma or calcification of the falx cerebri suggest the existence of a lipoma of the corpus callosum. We present the case of a male newborn with a congenital lipoma 15 mm in size located in the medial frontal line. Magnetic resonance imaging confirmed complete agenesis of the corpus callosum. While there is controversy about the association of frontal lipoma and lipoma of the corpus callosum and FND, we believe our case supports the concept that the changes are due to the same underlying pathogenic mechanism. Therefore, we recommend imaging of the central nervous system in newborns with a congenital lipoma located in the craniofacial midline.
额鼻发育异常（FND）是一种罕见的综合征，其特征为面部中央部分畸形，尤其是前额、鼻子和人中。FND与眼距过宽、隐性脑膨出和鼻裂有关。偶尔，受影响个体还会出现脑部和颅面骨异常。在这种情况下，额叶脂肪瘤或大脑镰钙化提示存在胼胝体脂肪瘤。我们报告一例男性新生儿病例，其位于额中线内侧有一个大小为15毫米的先天性脂肪瘤。磁共振成像证实胼胝体完全缺如。虽然关于额叶脂肪瘤与胼胝体脂肪瘤及FND之间的关联存在争议，但我们认为我们的病例支持这样一种观点，即这些变化是由相同的潜在致病机制引起的。因此，我们建议对颅面中线有先天性脂肪瘤的新生儿进行中枢神经系统成像检查。
