Cristofori G, Filippi G
Divisione di Neuropsichiatria Infantile, Università degli Studi, Trieste, Italy.
Am J Med Genet. 1992 Nov 15;44(5):611-4. doi: 10.1002/ajmg.1320440516.
We report on a 20-month-old boy with skull malformations and motor delays. A diagnosis of Saethre-Chotzen syndrome was made in view of the clinical and neuroradiological signs. Other unusual findings were trigonocephaly and occipital dysplasia with medial schisis at the foramen occipitalis. The mother showed a mild expression of the syndrome.
我们报告了一名患有颅骨畸形和运动发育迟缓的20个月大男孩。鉴于临床和神经放射学体征，诊断为塞-乔二氏综合征。其他异常发现包括三角头畸形和枕部发育异常，枕骨大孔处有内侧裂。母亲表现出该综合征的轻度症状。
