Catel-Manzke syndrome without Manzke dysostosis.

Danny E Miller, Penny Chow, Emily R Gallagher, Jonathan A Perkins, Tara L Wenger

American journal of medical genetics. Part A 2020 Mar

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Catel-Manzke syndrome is characterized by hand anomalies, Robin sequence, cardiac defects, joint hyperextensibility, and characteristic facial features. Approximately 40 patients with Catel-Manzke have been reported, all with the pathognomonic bilateral or unilateral hyperphalangy caused by an accessory bone between the second metacarpal and proximal phalanx known as Manzke dysostosis. Here we present the first case of molecularly confirmed Catel-Manzke syndrome with Robin sequence but without Manzke dysostosis. © 2019 Wiley Periodicals, Inc.

Citation

Danny E Miller, Penny Chow, Emily R Gallagher, Jonathan A Perkins, Tara L Wenger. Catel-Manzke syndrome without Manzke dysostosis. American journal of medical genetics. Part A. 2020 Mar;182(3):437-440