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Giuffrè–Tsukahara syndrome: Evidence for X-linked dominant inheritance and review

✍ Scribed by Ashwin B. Dalal; Anujit Sarkar; T. Padma Priya; Madhusudan R. Nandineni


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
233 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, Robin sequence, abnormal ears, cardiac anomalies, and hypotonia. We describe two patients with Toriello-Carey syndrome and call attention to an unbalanced sex ratio. The first patient,