Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 2.

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Fig. 2.

(A–C) Photograph of the patient at 18 years of age. She showed curly hair, frontal bossing, midface hypoplasia, hypertelorism with upward slanting palpebral fissures, a smooth philtrum, and a thin upper lip. (D) Photograph of the left hand. There are multiple calluses on the dorsal aspects of the fingers due to habitual hand-biting owing to self-injurious behavior. (E) Chest X-ray shows no small thorax at 5 years of age. T1-weighted axial (F) and sagittal (G) brain magnetic resonance imaging at the age of 7 years shows scaphocephaly and megalencephaly.

Journal of Genetic Medicine 2019;16:27-30
© 2019 Korean Society of Medical Genetics and Genomics