title: Cleft hand in Kabuki make-up syndrome: case report.
abstract: 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 congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; mental retardation; and short stature. Common hand anomalies associated with KMS include persistent fingertip pad, brachydactyly, 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.
authors.affiliation: Department of Orthopaedics, Hand and Upper Extremity Service, Seoul National University Bundang Hospital, Seongnam, Gyeonggi-do, Korea.
authors.forename: Jung Kyu
authors.initials: JK
authors.lastname: Huh
authors.forename: Moon Sang
authors.initials: MS
authors.lastname: Chung
authors.forename: Goo Hyun
authors.initials: GH
authors.lastname: Baek
authors.forename: Joo Han
authors.initials: JH
authors.lastname: Oh
authors.forename: Young Ho
authors.initials: YH
authors.lastname: Lee
authors.forename: Hyun Sik
authors.initials: HS
authors.lastname: Gong
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000628:therapy; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D005500:Follow-Up Studies; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging* / Q000628:therapy; D006402:Hematologic Diseases / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D011859:Radiography; D056910:Republic of Korea; D015837:Vestibular Diseases / Q000175:diagnosis / Q000628:therapy