Keipert syndrome: two further cases and review of the literature.

摘要

In 1973, Keipert et al described about two brothers with 'distinctive abnormalities of the face, the hand and the foot'. A diagnosis of Rubinstein-Taybi syndrome was entertained but rejected in view of the normal intelligence, normal growth, and absence of facial features characteristic of that condition. The authors described 'a new syndrome in two brothers. The main features are a strikingly abnormal facies and broad terminal phalanges of fingers and toes, accompanied by normal stature and a large head.' Both the brothers had sensorineural deafness. Further reports of this syndrome have been provided by Balci and Dagli (1996), Cappon and Khalifa (2000), Yamaguchi and Kondoh (2001) (article in Japanese), Reardon and Hall (2003), Dumic et al (2006) and Amor et al. (2007).