Abstract
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.
Keywords:
3q12.1q21.3 deletion; Toriello-Carey syndrome; chromosomal abnormalities; interstitial deletion 3q; tracheal and laryngeal anomalies.
© 2016 Wiley Periodicals, Inc.
MeSH terms
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Agenesis of Corpus Callosum / diagnosis*
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Agenesis of Corpus Callosum / genetics*
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China
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Chromosome Banding
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Chromosome Deletion*
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Chromosome Mapping
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Chromosomes, Human, Pair 3*
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Craniofacial Abnormalities / diagnosis*
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Craniofacial Abnormalities / genetics*
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Female
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Genetic Association Studies*
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Heart Defects, Congenital / diagnosis*
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Heart Defects, Congenital / genetics*
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Humans
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Limb Deformities, Congenital / diagnosis*
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Limb Deformities, Congenital / genetics*
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Magnetic Resonance Imaging
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Oligonucleotide Array Sequence Analysis
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Pierre Robin Syndrome / diagnosis*
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Pierre Robin Syndrome / genetics*
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Polymorphism, Single Nucleotide
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Tomography, X-Ray Computed
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Ultrasonography, Prenatal
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Urogenital Abnormalities / diagnosis*
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Urogenital Abnormalities / genetics*
Supplementary concepts
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Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence