Courtens W, Vamos E, Christophe C, Schinzel A
Laboratory of Cytogenetics, Brugmann University Hospital, Brussels, Belgium.
Am J Med Genet. 1997 Mar 3;69(1):17-22. doi: 10.1002/(sici)1096-8628(19970303)69:1<17::aid-ajmg4>3.0.co;2-q.
We present a 17-month-old boy with the acrocallosal syndrome. He was born to consanguineous parents. Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation. A review of previous reports on the acrocallosal syndrome shows considerable clinical variability; minimal diagnostic criteria are proposed. A developmental field defect with disturbance of midline development is suggested.
我们报告一名患有顶体胼胝体综合征的17个月大男孩。他的父母是近亲结婚。异常发现包括胼胝体发育不全、室间隔缺损(VSD)、手指轴后多指畸形、软腭裂、肠旋转不良、前囟门大、前额突出、眼距过宽、内眦赘皮、短鼻和下颌以及耳前皮肤赘生物、混合性听力损失、喉软化症以及生长发育、严重运动和智力迟缓。对先前关于顶体胼胝体综合征的报告进行回顾显示出相当大的临床变异性;提出了最低诊断标准。提示存在中线发育障碍的发育场缺陷。