Kabuki make-up syndrome with unilateral renal agenesis.
نویسندگان
چکیده
Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome with a diagnosis that is dependent upon clinical findings. Recognition of this entity is based upon unique facial appearance, including long palpebral fissures with everted lower eyelids, arched eyebrows, fleshy-cup-shaped ears and trapezoid philtrum, postnatal growth retardation, and mild to moderate mental retardation. We here report a seven-year, seven-month-old male patient with Kabuki syndrome who also had agenesis of the left kidney. We draw attention to the frequency and diversity of urogenital anomalies in this syndrome.
منابع مشابه
Kabuki make-up (Niikawa-Kuroki) syndrome: dental and craniofacial findings in a Brazilian child.
This article reports the case of a Brazilian child diagnosed with Kabuki make-up syndrome (KMS), addressing the clinical features observed, with emphasis on the disease-specific oral and craniofacial manifestations. The patient had the distinctive KMS craniofacial appearance, mild delayed mental development, fingers with prominent fingertip pads and visual deficit. The dental findings included ...
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ورودعنوان ژورنال:
- The Turkish journal of pediatrics
دوره 51 3 شماره
صفحات -
تاریخ انتشار 2009