Edda Haberlandt1, Christine Svejda, S. Felber, Susanne E. Baumgartner, Barbara Günther, Gerd Utermann, Dieter Kotzot
1Clinical Department of Pediatrics, Innsbruck Medical University, Innsbruck, Austria.
Tóm tắt
AbstractWe 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. © 2006 Wiley‐Liss, Inc.
