Cleft hand in Kabuki make-up syndrome: case report.

TitleCleft hand in Kabuki make-up syndrome: case report.
Publication TypeJournal Article
Year of Publication2011
AuthorsHuh JK, Chung MS, Baek GH, Oh JH, Lee YH, Gong HS
JournalThe Journal of hand surgery
Date Published2011 Apr
KeywordsAbnormalities, Multiple, Face, Female, Fingers, Follow-Up Studies, Hand Deformities, Congenital, Hematologic Diseases, Humans, Infant, Republic of Korea, Vestibular Diseases

Kabuki make-up syndrome (KMS) is a multiple malformation/mental retardation syndrome that was first described in Japan but is now reported in many other ethnic groups. Kabuki make-up syndrome is characterized by multiple congenitali abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; mental retardation; and short stature. Common hand anomalies associated with KMS include persistent fingertip pad, brachydactylyi, clinodactyly, and lax joints. We report a patient with KMS who presented with cleft hand, a feature that has not yet been described in KMS, and describe the potential genetic cause.

Alternate JournalJ Hand Surg Am
Citation Key930
PubMed ID21411242