Cantú J M, Hernández A, Ramírez J, Bernal M, Rubio G, Urrusti J, Franco-Vázquez S
Birth Defects Orig Artic Ser. 1975;11(5):91-8.
Three male sibs from consanguienous parents were found to have a strikingly similar pattern of multiple congenital anomalies. The main features were polyhydramnios; low birthweight; dwarfism; epicanthal folds; abnormal ears; microretrognathia; microstomia; microglossia; glossoptosis; webbed neck; severe cardiac defects; radial and ulnar hypoplasia; radial deviation of the hands; brachymetacarpalia; thumb hypoplasia; clinodactyly and hypoplasia of the 5th finger; simian creases; fibular and tibial hypoplasia; talipes varus with hypoplastic heels; wide gap between 1st and 2nd toes; and delayed bone age. Neonatal death occurred in the 3 babies by severe cardiac failure. Differential diagnosis permits one to conclude that this is a new type of faciocardiomelic dysplasia with a probable autosomal recessive inheritance.
发现来自近亲父母的三名男性同胞有极其相似的多种先天性异常模式。主要特征为羊水过多；低出生体重；侏儒症；内眦赘皮；耳部异常；小颌后缩；小口；小舌；舌下垂；蹼颈；严重心脏缺陷；桡骨和尺骨发育不全；手部桡侧偏斜；掌骨短小；拇指发育不全；小指弯曲及发育不全；猿掌纹；腓骨和胫骨发育不全；内翻足伴足跟发育不全；第1和第2趾间间隙宽；以及骨龄延迟。3名婴儿均因严重心力衰竭在新生儿期死亡。鉴别诊断使人们得出结论，这是一种新型的面心肢发育不良，可能为常染色体隐性遗传。
