کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4069823 1604410 2011 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Cleft Hand in Kabuki Make-Up Syndrome: Case Report
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی ارتوپدی، پزشکی ورزشی و توانبخشی
پیش نمایش صفحه اول مقاله
Cleft Hand in Kabuki Make-Up Syndrome: Case Report
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Journal of Hand Surgery - Volume 36, Issue 4, April 2011, Pages 653-657
نویسندگان
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