Kabuki-Make-Up Syndrome with Multiple Congenital Heart Defects
نویسندگان
چکیده
منابع مشابه
Congenital heart defects in Kabuki syndrome.
BACKGROUND Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations. METHODS Literature of congenital heart defects associated with KS was comprehensively retrieved, collected and reviewed. The clinical features of the congenita...
متن کاملKabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.
Kabuki make-up syndrome has been reported mainly among Japanese, so far occurring in more than 20 cases. Among these, however, only one case associated with congenital heart defect has been reported. We have treated three patients with this syndrome and of these two had congenital heart disease. We suggest the possibility that the association of congenital heart disease with Kabuki make-up synd...
متن کاملOral features in Kabuki make-up Syndrome.
AIM Kabuki make-up Syndrome is so named because of the characteristic facies of the affected patient. The face is similar to a Kabuki actor's mask. The main aim of this report was to describe the oral features in Kabuki Syndrome, focusing on the tooth anomalies. PATIENTS AND METHODS Five subjects with Kabuki Syndrome, identified by the Child Neuropsychiatric Clinic of the University of Sassar...
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Aghoutane Elmouhtadi*, MD; Fezzazi Redouane, MD Department of Orthopedic Pediatric Surgery, Medical University Hospital Mohammed VI, Faculty of Medicine and Pharmacy, Marrakech, Morocco Received: Oct 19, 2011; Accepted: Apr 08, 2012; First Online Available: Jan 17, 2013 Kabuki make-up syndrome (KMS) is a rare multiple congenital anomalies/mental retardation syndrome of unknown cause, first desc...
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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 retardatio...
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ژورنال
عنوان ژورنال: Pediatrics Research International Journal
سال: 2014
ISSN: 2329-9282
DOI: 10.5171/2014.511851