de Echániz Espejo L, Narbona García J, García Corchón C, Villa Elízaga I
Departamento de Pediatría, Facultad de Medicina de la Universidad de Navarra, Pamplona.
An Esp Pediatr. 1987 Sep;27(3):199-204.
We report four cases with syndrome of asymmetric crying facies, analyzing particularly the etiology, embryology, and incidence of the congenital hypoplasia of depressor anguli oris muscle. In one of the cases, with multiple malformations, the patient had an abnormal karyotype, 47,XX, +i(18p). We stress the high incidence of associations with congenital malformations (eight fold the general population) and more specifically with congenital heart disease, musculoskeletal, and genito-urinary defects. The diagnosis of MDAO agenesis is basically clinic, being as differential diagnosis the paralysis of the 7th cranial nerve, defining it with electrophysiological techniques.
我们报告了4例不对称哭泣面容综合征病例，特别分析了降口角肌先天性发育不全的病因、胚胎学及发病率。其中1例伴有多种畸形，患者核型异常，为47,XX, +i(18p)。我们强调该综合征与先天性畸形（发病率是普通人群的8倍）尤其是先天性心脏病、肌肉骨骼及泌尿生殖系统缺陷的关联高发。口角降肌发育不全的诊断基本依靠临床，需与第7颅神经麻痹进行鉴别诊断，并用电生理技术加以明确。
