Haberlandt Edda, Svejda Christine, Felber Stefan, Baumgartner Sara, Günther Barbara, Utermann Gerd, Kotzot Dieter
Clinical Department of Pediatrics, Innsbruck Medical University, Innsbruck, Austria.
Am J Med Genet A. 2006 Feb 1;140(3):281-3. doi: 10.1002/ajmg.a.31071.
We describe an 11-year-old boy with hypoplastic amelogenesis imperfecta, yellow teeth, seizures, and developmental delay, which are the hallmarks of Kohlschütter-Tönz syndrome. Compared to other reported cases of the syndrome, our patient had less severe developmental delay. Also, spasticity and loss of mental capacity should not be considered obligatory manifestations of the syndrome because they are not present in half of reported patients, as well as in our family. Origin of the parents of our patient from neighboring villages supports autosomal recessive inheritance of Kohlschütter-Tönz syndrome.
我们描述了一名患有牙釉质发育不全、牙齿发黄、癫痫发作和发育迟缓的11岁男孩,这些都是科尔施许特-通茨综合征的特征。与该综合征其他已报道的病例相比,我们的患者发育迟缓程度较轻。此外,痉挛和智力丧失不应被视为该综合征的必然表现,因为在已报道的患者中以及在我们的家族中,有一半患者不存在这些症状。我们患者的父母来自相邻村庄,这支持了科尔施许特-通茨综合征的常染色体隐性遗传。