Niebuhr E
Clin Genet. 1979 Aug;16(2):82-95. doi: 10.1111/j.1399-0004.1979.tb00856.x.
Anthropometric and cranial X-ray measurements of 35 individuals with a 5p- karyotype showed a general growth retardation. Height, weight, circumference of the thorax, pelvic breadth, and the size of the skull, face, hands and feet were all subnormal. Only the inner canthal distance was moderately increased, especially in young individuals, but there was no true hypertelorism. The palate was not high-arched. Large and small terminal deletions produced much the same anthropometric features; and the proband's sex did not have a major influence. Age variations within parameters examined followed the developmental pattern of normal individuals. A certain phenotypical variation in the Cri du Chat syndrome may therefore be attributed to normal changes or to intrapersonal conditions.
对35名具有5p-核型的个体进行人体测量和颅骨X线测量,结果显示普遍生长发育迟缓。身高、体重、胸围、骨盆宽度以及颅骨、面部、手和脚的大小均低于正常水平。只有内眦距离适度增加,尤其是在年轻个体中,但不存在真正的眼距过宽。腭部并非高拱。大小端粒缺失产生的人体测量特征大致相同;先证者的性别没有重大影响。所检查参数内的年龄差异遵循正常个体的发育模式。因此,猫叫综合征的某些表型变异可能归因于正常变化或个体内部状况。