Kabuki make up syndrome in a Caribbean black child from Trinidad

Abstract

The Kabuki make-up syndrome was first reported independently in 1981 by Niikawa and Kuroki. It is characterized by growth and mental retardation, dermatoglyphics abnormalities, and facial features resembling the stylized make-up worn by Kabuki actors. To date 100 cases have been reported, mostly of Japanese and Caucasian descent. Among these only two cases were of black ethnicity, one of which was mixed. We report the second case of Kabuki make-up syndrome in a non-mixed black male. He is a 5½ year old with growth deficiency in the first four years of life, which progressed to a low-normal percentile. He has moderate developmental delays, speech problems, some hyperactivity, mannerisms like hand flapping, cheerful behavior, out-toeing walk, stooped sitting posture with occasional drooling. He is on anticonvulsant medication for the past 6 months. Past medical history includes UTI, VUR, OME, diaphragmatic eventration, and submucose cleft palate. His craniofacial features show wide forehead and prominent occiput, long palpebral fissures, blue sclera, epicanthal folds, eyelid ectropion and ptosis of lower and upper eyelids respectively. Patient also presented with arching sparse eyebrows, short nasal septum, with depressed nasal tip, prominent firtrum, tented upper lip, and teeth abnormalities. The ears are prominent with bilateral tubes. Cardiothoracic abnormalities include pectus excavatum, I or II/VI systolic murmur due to an ASD confirmed by echo. On chest x-ray the cardiac silhouette was mildly enlarged, right hemithorax smaller than left with mild shifting of the heart and mediastinum to the right. Patient also has right undescended and left retractile testes. The finger pads are very prominent with excess loops, broad first toe, and nail hypoplasia Chromosomal analysis was normal.Our patient, like the other reported black case, did not present with short stature at the age of 5 years. Therefore it may be possible that an ethnic factor accounts for such variations in height as comparison to other groups. To our knowledge, the mannerism and cheerful behavior of our patient, except for the mixed black case, has not been emphasized in other studies.