Further evidence of dominant inheritance of Kabuki syndrome.

摘要

Kabuki syndrome is a multiple congenital anomaly syndrome associated with developmental delay and dysmorphic features. We report two new cases, a mother and daughter, with the condition, providing further evidence for a dominant inheritance pattern. Case 1 is the first child of non-consanguineous parents. She has a full sibling who is fit and well and developing normally. She was born by emergency section for maternal preeclampsia at term, weighing 3.23 kg. There were no concerns about her at birth and she presented to the Clinical Genetics department at 5 years of age with developmental delay and dysmorphic features (Figs 1-3). She also had a pectus excavatum and hyperextensible joints.