Yüksel M, Caliskan M, Oğur G, Ozmen M, Dolunay G, Apak S
Division of Genetics, University of Istanbul, Turkey.
J Med Genet. 1990 Jan;27(1):48-9. doi: 10.1136/jmg.27.1.48.
A 6 month old Turkish boy with the acrocallosal syndrome is reported. The patient, born to consanguineous, healthy parents, presented with macrocephaly, a prominent forehead, hypertelorism, polydactyly of the fingers and toes, severe motor and mental retardation, hypotonia, and absence of the corpus callosum. The mode of inheritance is discussed and our case is compared with previously reported cases of the syndrome.
报告了一名患有顶体发育不全综合征的6个月大土耳其男婴。该患者的父母为近亲结婚但身体健康,患儿表现为巨头畸形、前额突出、眼距过宽、手指和脚趾多指畸形、严重的运动和智力发育迟缓、肌张力减退以及胼胝体缺失。文中讨论了该综合征的遗传模式,并将我们的病例与先前报道的该综合征病例进行了比较。