Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment

• Hoofdauteurs: Sotirios Siminas (Auteur), Colin Tennant Baillie (Auteur), Richard Turnock (Auteur)
• Formaat: Boek
• Gepubliceerd in: Georg Thieme Verlag KG, 2015-05-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and s...