TEN PATIENTS WITH KABUKI MAKE-UP ( NIIKAWA-KUROKI ) SYNDROME Miyako
semanticscholar(2009)
Abstract
In addition to the typical craniofacial anomalies (Figure), case 1 had dermatoglyphic abnormalities, short fifth fingers, hip dislocation, hearing loss, obesity, epilepsy, and xeroderma pigmentosum. Case 2 had short fifth fingers, cleft palate, obesity, and a VSD, but no dermatoglyphic abnorm'alities. Case 3 had dermatoglyphic abnormalities, strabismus, short fifth fingers, a rib anbmaly, and xeroderma pigmentosum. Case 4 had one dermatoglyphic abnormality, strabismus, short fifth fingers, and epilepsy. Case 5, who was 45,X had one dermatoglyphic abnormality, strabismus, short fifth fingers, epilepsy, and xeroderma pigmentosum. Case 6 had two dermatoglyphic abnormalities, .strabismus, cleft palate, hip dislocation, blue sclerae, epilepsy and xeroderma pigmentosum, but no shortening of finger V. Case 7 had two dermatoglyphic abnormalities, strabismus, short fifth fingers, ASD, VSD, epilepsy and xeroderma pigmentosum. Case 8 had two dermatoglyphic abnormalities, blue sclerae, and epilepsy. Case 9 had dermatoglyphic abnormalities, obesity, strabismus, and epilepsy, but no shortening of finger V. Case 10 had one dermatoglyphic abnormality, and epilepsy, but no shorten.ing of finger V. Cases 1 to 5 had definite lower palpebral eversion, while cases 6 to 10 had only mild eversion. Cases 9 and 10 had arched eyebrows but the pattern of hair growth was es-
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