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Case Reports
. 2020 Mar;182(3):437-440.
doi: 10.1002/ajmg.a.61436. Epub 2019 Dec 12.

Catel-Manzke syndrome without Manzke dysostosis

Danny E Miller  1   2 , Penny Chow  3 , Emily R Gallagher  3 , Jonathan A Perkins  4 , Tara L Wenger  2
Affiliations
Case Reports

Catel-Manzke syndrome without Manzke dysostosis

Danny E Miller et al. Am J Med Genet A. 2020 Mar.

Abstract

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.

Keywords: Catel-Manzke syndrome; Manzke dysostosis; Robin sequence.

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