RESUMO
Niikawa-Kuroki syndrome (Kabuki syndrome) is a multiple congenital anomaly syndrome of unknown etiology with a very wide spectrum of abnormalities and severity. The aim of this paper was to report the first case of the syndrome in Kazakhstan associated café au lait. Five year and half old boy from Kazakhstan (Uzbek-of Turk ethnicity) presented with dysmorphic facial features (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head, epicanthic folds short stature, delayed language development, hypotonia, bilateral developmental dysplasia of the hip (DDH), large ears and triangular chin, café au lait spots. The clinical diagnosis was based on the triad of characteristic facial abnormalities (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head), growth retardation, (DDH). In this paper the authors report the first case of Kabuki syndrome associated with café au lait spots.
