PMC4131925_01
Clinical features of the patient. Clenched hands (A); ear abnormalities including deep bilateral earlobe crease, hypertrophic antitragus and attached earlobe (B); prominent philtrum with a central ridge (C); congenital circumferential skin folds (D).
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PMC4131925_01_nihms611175f1.jpg
F1
At birth, she was noticed to be dysmorphic and had CCSF and multiple congenital anomalies (Fig. 1, Table 1).