Article
Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.
American journal of medical genetics. Part A - 1 May 2017
Pogue Robert, Marques Felipe A, Kopacek Cristiane, Rosa Rosana C M, Dorfman Luiza E, Mazzeu Juliana F, Flores José A M, Zen Paulo R G, Rosa Rafael F M
Abstract excerpt
Delta phalanx is a rare abnormality typically associated with additional features. We describe a patient with a phenotype resembling Catel-Manzke syndrome, but with delta phalanx and abnormal vertebrae and ribs. The patient was the only child of half siblings born with a marked prenatal growth deficiency. At 10 years of age, she had a short stature, long face, long and tubular nose with small alae nasi, high...
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