Simosa V, Penchaszadeh V B, Bustos T
Centro Nacional de Genética Humana y Experimental, Universidad Central de Venezuela, Caracas.
Am J Med Genet. 1989 Feb;32(2):184-6. doi: 10.1002/ajmg.1320320209.
We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no "whistling" face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant.
我们报告了一位母亲和她儿子的病例,他们具有高额、脸部长且扁平、弓形且稀疏的眉毛、睑裂短、内眦距增宽、长鼻及发育不全的鼻孔、长人中、小口、高而窄的上颚、鼻音、下巴酒窝以及一种非常罕见的双侧耳部畸形。智力和听力正常,没有“吹口哨”面容或手指畸形。尽管在某些方面与弗里曼-谢尔顿综合征相似,但这种表型很可能代表一种新的畸形综合征,可能是常染色体显性或X连锁显性。