Toriello H V, Carey J C
Butterworth Hospital, Grand Rapids, Michigan.
Am J Med Genet. 1988 Sep;31(1):17-23. doi: 10.1002/ajmg.1320310105.
We describe findings in four children, three of whom are sibs, who appear to have the same, previously undescribed multiple congenital anomaly (MCA) syndrome. The main manifestations include agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormal ears, redundant neck skin, laryngeal anomalies, cardiac defect, short hands, and hypotonia. The presence of this condition in sibs of each sex suggests that autosomal recessive inheritance is the most likely cause.
我们描述了4名儿童的症状，其中3名是兄弟姐妹，他们似乎患有相同的、此前未被描述过的多发性先天性异常（MCA）综合征。主要表现包括胼胝体发育不全、眼距过宽、睑裂短小、鼻孔前倾的小鼻子、罗宾序列征、耳部异常、颈部皮肤冗余、喉部异常、心脏缺陷、手部短小和肌张力减退。这种情况在不同性别的兄弟姐妹中都有出现，这表明常染色体隐性遗传是最可能的病因。
