Higginbottom M C, Mascarello J T, Hassin H, McCord W K
J Med Genet. 1982 Feb;19(1):71-3. doi: 10.1136/jmg.19.1.71.
A child with monosomy for the distal part of the short arm of chromosome 3 is presented. Altered features include prenatal onset growth deficiency, postaxial polydactyly, ptosis, ear anomalies, and a triangular facial appearance. In addition to generalised delay in psychomotor development, specific problems in visual attention were present. Comparison with the previously reported case suggests that the phenotype observed constitutes a clinically recognisable pattern of malformation.
本文报告了一名3号染色体短臂远端单体性的患儿。其异常特征包括产前起病的生长发育迟缓、轴后多指(趾)畸形、上睑下垂、耳部异常以及三角形面容。除了精神运动发育普遍延迟外,还存在视觉注意力方面的特定问题。与先前报道的病例比较表明,所观察到的表型构成一种临床上可识别的畸形模式。