A Chinese patient with Toriello–Carey syndrome and an interstitial deletion of 3q

Toriello–Carey syndrome (T–CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, unusual facial appearance, and other anomalies. Tracheal or laryngeal anomalies are reported as a common manifestation of T–CS. These anomalies can lead to respiratory distress and respiratory tract infection. The cause of T–CS is unknown, although there have been reports of patients with a clinical diagnosis of T–CS and a chromosome anomaly. We describe another such patient who was found to have an interstitial deletion of 3q (3q12.1-q21.3). © 2016 Wiley Periodicals, Inc.

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