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

TítuloCleft hand in Kabuki make-up syndrome: case report.
Tipo de PublicaciónJournal Article
Nuevas Publicaciones2011
AutoresHuh JK, Chung MS, Baek GH, Oh JH, Lee YH, Gong HS
JournalThe Journal of hand surgery
Volumen36
Ejemplar4
Pagination653-7
Año de publicación2011 Apr
ISBN1531-6564
Palabras claveAbnormalities, Multiple, Face, Female, Fingers, Follow-Up Studies, Hand Deformities, Congenital, Hematologic Diseases, Humans, Infant, Republic of Korea, Vestibular Diseases
Resumen

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.

DOI10.1016/j.jhsa.2010.12.033
Alternate JournalJ Hand Surg Am
Citation Key930
PubMed ID21411242