Pfeiffer R A, Mayer U
Institut für Humangenetik und Anthropologie der Universität, Erlangen-Nürnberg.
Klin Monbl Augenheilkd. 1987 Dec;191(6):473-7. doi: 10.1055/s-2008-1050556.
A syndrome which consists of growth retardation, mental deficiency, preaxial polydactyly and colobomatous anomalies was observed in two sibs and might have been transmitted by an autosomal recessive mutation. In the brother there is an incomplete coloboma of the optic nerve head, in the sister a coloboma of the iris, optic nerve head, choroid, and retina. Polydactyly is unilateral. Similar observations have been quoted but no identical case seems to have been published.
在两个同胞中观察到一种综合征，其特征包括生长发育迟缓、智力缺陷、轴前多指畸形和缺损畸形，可能是由常染色体隐性突变遗传而来。哥哥存在视神经乳头不完全缺损，妹妹则有虹膜、视神经乳头、脉络膜和视网膜缺损。多指畸形为单侧性。曾有过类似的观察报告，但似乎尚未发表过完全相同的病例。
