A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period

<div>Photographs and MRI of the patient. (a) A front view of the patient showing bitemporal bulbous nose, wide nasal base, and bitemporal narrowing. (b) A side view of the patient showing microcephaly, micrognathia, and retrognathia. (c) Perineum showing hypoplastic scrotum. (d) A sagittal fluid-attenuated inversion recovery (FLAIR) image showing corpus callosum agenesis. (e) Sagittal T2-weighted MRI images of the knees showing absent patellar cartilages. (f) A coronal 3D T2-weighted image showing bilateral renal pelvic dilation.</div>

Case Reports in Genetics

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Figure 1

Figure 1: A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period 