Silengo M C, Bell G L, Biagioli M, Guala A, Bianco R, Strandoni P, De Sario P N, Franceschini P
Clin Genet. 1986 Dec;30(6):481-4. doi: 10.1111/j.1399-0004.1986.tb01915.x.
An infant boy with asymmetric crying facies, microcephaly, developmental retardation and failure to thrive is reported. His two siblings died in the newborn period because of complex congenital heart defects. The mother and the maternal grandmother have asymmetric crying facies, microcephaly and normal intelligence. A maternal aunt has severe physical and mental retardation, facial asymmetry, microcephaly, and cleft palate. This family allows an expansion of the spectrum of malformations associated with asymmetric crying facies and suggests autosomal dominant inheritance with variable expressivity.
报告了一名患有不对称哭泣面容、小头畸形、发育迟缓及生长发育不良的男婴。他的两个兄弟姐妹在新生儿期因复杂先天性心脏缺陷死亡。母亲和外祖母有不对称哭泣面容、小头畸形且智力正常。一位姨母有严重的身心发育迟缓、面部不对称、小头畸形及腭裂。该家系扩展了与不对称哭泣面容相关的畸形谱,并提示为具有可变表达的常染色体显性遗传。