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

Fig. 1.

Download original image
Fig. 1. Representative photographies showing the clinical features of the patient. Patient showed hypertelorism, shore and retro forehead, low nasal bridge, upward nostril, micrognathia, low set ear with underdevelopment antihelix (A), small scrotum with micropenis, cryptorchidism (C), overriding fingers and long thumbs/great toes (D) at admission. (B) Immobile mask-like face, a bulbous nasal tip, and severe blepharophimosis at the age of 4 months.
Journal of Genetic Medicine 2021;18:147-51
© 2021 Korean Society of Medical Genetics and Genomics