Wendisch J, Lorenz P, Kabus M, Rupprecht E, Walther S
Klinik für Kinderheilkunde, Medizinischen Akademie Carl Gustav Carus, Dresden.
Kinderarztl Prax. 1990 Jun;58(6):315-21.
The acrocallosal syndrome is a rare congenital malformation syndrome with the main findings: agenesis of the corpus callosum, craniofacial dysmorphisms, mental retardation, polydactyly of the hands and/or feet. We report a patient with partial agenesis of the corpus callosum, dolichocephalus, broad and short nose, low-set and posteriorly rotated ears, pre- and postaxial polydactyly of feet, duplication with syndactyly of big toes, and postaxial hexadactyly of the left hand. Differential diagnosis and the genetic counseling are discussed.
胼胝体发育不全综合征是一种罕见的先天性畸形综合征,主要表现为:胼胝体发育不全、颅面畸形、智力发育迟缓、手足多指(趾)畸形。我们报告一例患有部分胼胝体发育不全、长头畸形、宽短鼻、低位且向后旋转的耳朵、足部轴前和轴后多指(趾)畸形、大脚趾重复并伴有并指畸形以及左手轴后六指畸形的患者。文中讨论了鉴别诊断和遗传咨询。