Journal of Clinical Immunology (2018) 38:475–477 https://doi.org/10.1007/s10875-018-0516-9 LETTER TO EDITOR 1 2 3 4 1 Antonio Marzollo & Davide Colavito & Stefano Sartori & Giuseppe Nicolò Fanelli & Maria Caterina Putti Received: 15 January 2018 /Accepted: 22 May 2018 /Published online: 30 May 2018 Springer Science+Business Media, LLC, part of Springer Nature 2018 To the Editor The patient was born from non-consanguineous parents of Kabuki syndrome (KS) is a multi-systemic inherited disorder Northern Italian origin after in vitro fertilization. Her twin characterized by distinctive facial features, cardiac and skele- brother is healthy and the remaining family history is unre- tal abnormalities, developmental delay, growth retardation, markable. At birth, single umbilical artery, narrow bifrontal and neurosensorial hearing loss. Facial features include long diameter, relative hypertelorism, posteriorly rotated ears, broad palpebral fissures, everted lower eyelids, arched eyebrows, nose, and high arched palate were noted. The patient short columella with depressed nasal tip and prominent or underwent cardiac surgery at the age of 45 days for the repair cupped ears. Immune deficiency has been reported in patients of a large interventricular defect. From the second year of life, with KS and results in a predisposition to upper and lower the patient showed
Journal of Clinical Immunology – Springer Journals
Published: May 30, 2018
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