Philip N, Apicella N, Lassman I, Ayme S, Mattei J F, Giraud F
INSERM U.242, Hôpital d-Enfants de la Timone, Marseille, France.
Eur J Pediatr. 1988 Feb;147(2):206-8. doi: 10.1007/BF00442226.
The acrocallosal syndrome is characterized by peculiar facies, polydactyly of the hands and/or feet, and agenesis of the corpus callosum. Two unrelated 4-month-old boys with consanguineous parents are reported. Both exhibited the main features of the syndrome, but neither of them had partial reduplication of halluces. Consequently, pre-axial polydactyly of the feet is not considered to be a constant feature of the acrocallosal syndrome. The similarity of the acrocallosal syndrome to Greig syndrome is discussed, but it appears unlikely that the two syndromes are identical. Consanguinity in both cases is a strong argument in favour of a recessive mode of inheritance.
胼胝体发育不全综合征的特征为特殊面容、手足多指（趾）畸形以及胼胝体发育不全。本文报道了两名4个月大、父母为近亲的不相关男婴。二者均表现出该综合征的主要特征，但均无拇趾部分重复。因此，足部轴前多指（趾）畸形不被认为是胼胝体发育不全综合征的恒定特征。文中讨论了胼胝体发育不全综合征与Greig综合征的相似性，但这两种综合征似乎不太可能完全相同。两例均为近亲结婚，有力支持了隐性遗传模式。
