Guazzi G, Palmeri S, Malandrini A, Ciacci G, Di Perri R, Mancini G, Messina C, Salvadori C
Institute of Neurological Sciences, University of Siena, Italy.
Am J Med Genet. 1994 Mar 1;50(1):79-83. doi: 10.1002/ajmg.1320500117.
We describe 3 sibs, their father, and paternal grandfather with amelogenesis imperfecta. In 2 sibs and the father the defect is associated with a neurological syndrome which has a wide range of phenotypic variability. The proposita has ataxia, EEG abnormalities, moderate dementia, and enamel hypoplasia. This case and the affected relatives are discussed in relation to Kohlschütter-Tönz syndrome and neuroectodermal diseases. The syndrome described here, characterized by the association of a genetic enamel defect and neurological impairment, may be of considerable interest in advancing genetic and clinical knowledge on ectodermal tissues and their development.
我们描述了3名患有牙釉质发育不全的同胞及其父亲和祖父。在2名同胞和父亲中，该缺陷与一种具有广泛表型变异性的神经综合征相关。先证者有共济失调、脑电图异常、中度痴呆和牙釉质发育不全。结合科尔施许特-滕茨综合征和神经外胚层疾病对该病例及受影响亲属进行了讨论。这里描述的综合征以遗传性牙釉质缺陷和神经功能损害相关为特征，可能对推进关于外胚层组织及其发育的遗传学和临床知识具有重要意义。
